Variant report

Variant	esv2761485
Chromosome Location	chr9:6715049-6775119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1609)
CpG islands
(count:1038)
Chromatin interactive
region (count:55)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6755672-6755722	K562	blood:	n/a	n/a
2	ARID3A	chr9:6716174-6716454	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6756811-6758201	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:6739329-6739619	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:6758992-6759444	K562	blood:	n/a	n/a
6	ARID3A	chr9:6756891-6757253	K562	blood:	n/a	n/a
7	ATF1	chr9:6756990-6758095	K562	blood:	n/a	n/a
8	ATF1	chr9:6753060-6753144	K562	blood:	n/a	n/a
9	ATF2	chr9:6722741-6723673	GM12878	blood:	n/a	n/a
10	ATF2	chr9:6757315-6757912	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr9:6750387-6751234	GM12878	blood:	n/a	n/a
12	ATF2	chr9:6757293-6758094	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr9:6715844-6716527	GM12878	blood:	n/a	chr9:6716129-6716140
14	ATF2	chr9:6722727-6723186	GM12878	blood:	n/a	n/a
15	ATF2	chr9:6758832-6759588	GM12878	blood:	n/a	n/a
16	ATF2	chr9:6750570-6751254	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6715890-6716329	GM12878	blood:	n/a	chr9:6716129-6716140
18	ATF2	chr9:6771753-6772027	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr9:6771687-6772129	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr9:6756759-6758392	GM12878	blood:	n/a	n/a
21	ATF2	chr9:6756928-6758082	GM12878	blood:	n/a	n/a
22	ATF2	chr9:6758832-6759575	GM12878	blood:	n/a	n/a
23	ATF3	chr9:6757789-6758049	GM12878	blood:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
24	ATF3	chr9:6757652-6758141	HepG2	liver:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
25	ATF3	chr9:6757524-6758154	A549	lung:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
26	ATF3	chr9:6757570-6758187	GM12878	blood:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
27	ATF3	chr9:6757154-6757557	K562	blood:	n/a	n/a
28	ATF3	chr9:6757678-6758138	H1-hESC	embryonic stem cell:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
29	ATF3	chr9:6757790-6758075	K562	blood:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
30	ATF3	chr9:6757628-6758216	HepG2	liver:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
31	ATF3	chr9:6757514-6757784	K562	blood:	n/a	n/a
32	ATF3	chr9:6757468-6758055	A549	lung:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
33	ATF3	chr9:6757772-6758138	K562	blood:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
34	ATF3	chr9:6757549-6758137	H1-hESC	embryonic stem cell:	n/a	chr9:6757929-6757949 chr9:6757940-6757960 chr9:6757949-6757958 chr9:6757940-6757949 chr9:6757953-6757962
35	BACH1	chr9:6765406-6765470	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr9:6757224-6758261	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr9:6758576-6759166	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr9:6764615-6764768	H1-hESC	embryonic stem cell:	n/a	chr9:6764754-6764768
39	BATF	chr9:6750653-6751296	GM12878	blood:	n/a	n/a
40	BATF	chr9:6759129-6759503	GM12878	blood:	n/a	n/a
41	BATF	chr9:6757171-6757975	GM12878	blood:	n/a	n/a
42	BATF	chr9:6723227-6723565	GM12878	blood:	n/a	n/a
43	BATF	chr9:6722711-6723091	GM12878	blood:	n/a	n/a
44	BCL11A	chr9:6723143-6723561	GM12878	blood:	n/a	n/a
45	BCL11A	chr9:6722699-6723018	GM12878	blood:	n/a	n/a
46	BCL11A	chr9:6750615-6751060	GM12878	blood:	n/a	chr9:6750723-6750732
47	BCL11A	chr9:6750696-6750991	GM12878	blood:	n/a	chr9:6750723-6750732
48	BCL11A	chr9:6771770-6772048	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCL3	chr9:6757504-6758022	A549	lung:	n/a	chr9:6757996-6758009
50	BCL3	chr9:6726224-6726550	GM12878	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6757146-6757196	NB4	blood:	n/a
2	chr9:6757146-6757196	NB4	blood:	n/a
3	chr9:6757781-6757831	HepG2	liver:	n/a
4	chr9:6716417-6716467	HRPEpiC	eye:	n/a
5	chr9:6716417-6716467	ovcar-3	ovarian:	n/a
6	chr9:6758683-6758733	Hela-S3	cervix:	n/a
7	chr9:6757347-6757397	GM12892	blood:	n/a
8	chr9:6758683-6758733	BJ	skin:	n/a
9	chr9:6757912-6757962	AG09319	gingival:	n/a
10	chr9:6716007-6716057	HAEpiC	amniotic membrane:	n/a
11	chr9:6731623-6731673	NHDF-neo	bronchial:	n/a
12	chr9:6755109-6755159	SAEC	small airway:	n/a
13	chr9:6731623-6731673	HL-60	blood:	n/a
14	chr9:6716480-6716530	LNCaP	prostate:	n/a
15	chr9:6716480-6716530	HRPEpiC	eye:	n/a
16	chr9:6758683-6758733	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:6757826-6757876	Caco-2	colon:	n/a
18	chr9:6757826-6757876	PANC-1	pancreas:	n/a
19	chr9:6715032-6715082	MCF-7	breast:	n/a
20	chr9:6716417-6716467	GM12891	blood:	n/a
21	chr9:6757146-6757196	Hela-S3	cervix:	n/a
22	chr9:6731623-6731673	HIPEpiC	eye:	n/a
23	chr9:6716007-6716057	HCT-116	colon:	n/a
24	chr9:6758140-6758190	SK-N-SH	brain:	n/a
25	chr9:6758935-6758985	HIPEpiC	eye:	n/a
26	chr9:6716480-6716530	ECC-1	luminal epithelium:	n/a
27	chr9:6757146-6757196	GM12892	blood:	n/a
28	chr9:6716417-6716467	HRE	kidney:	n/a
29	chr9:6761072-6761122	NHDF-neo	bronchial:	n/a
30	chr9:6716417-6716467	HIPEpiC	eye:	n/a
31	chr9:6758853-6758903	GM06990	blood:	n/a
32	chr9:6757912-6757962	GM19239	blood:	n/a
33	chr9:6716007-6716057	U87	brain:	n/a
34	chr9:6757826-6757876	IMR90	lung:	fetal
35	chr9:6715032-6715082	HCF	heart:	n/a
36	chr9:6755109-6755159	HNPCEpiC	eye:	n/a
37	chr9:6755109-6755159	T-47D	breast:	n/a
38	chr9:6758546-6758596	HRCEpiC	kidney:	n/a
39	chr9:6758546-6758596	T-47D	breast:	n/a
40	chr9:6716007-6716057	HRPEpiC	eye:	n/a
41	chr9:6757781-6757831	LNCaP	prostate:	n/a
42	chr9:6757347-6757397	NH-A	brain:	n/a
43	chr9:6758140-6758190	HUVEC	blood vessel:	n/a
44	chr9:6731623-6731673	AG09319	gingival:	n/a
45	chr9:6731623-6731673	NB4	blood:	n/a
46	chr9:6757781-6757831	SK-N-SH_RA	brain:	n/a
47	chr9:6716417-6716467	PANC-1	pancreas:	n/a
48	chr9:6757781-6757831	T-47D	breast:	n/a
49	chr9:6758140-6758190	AG04449	skin:	fetal
50	chr9:6758140-6758190	LNCaP	prostate:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:6749197..6752825-chr9:6755235..6757236,4	K562	blood:
2	chr11:88070952..88071704-chr9:6757255..6758140,2	NB4	blood:
3	chr9:6747740..6749345-chr9:6756036..6758918,2	MCF-7	breast:
4	chr6:26216402..26217347-chr9:6757097..6757962,2	Hela-S3	cervix:
5	chr9:6702847..6705575-chr9:6714326..6717882,7	MCF-7	breast:
6	chr11:57102959..57103791-chr9:6757018..6757636,2	NB4	blood:
7	chr9:6715258..6717463-chr9:6718537..6720528,2	MCF-7	breast:
8	chr12:49245554..49246083-chr9:6757387..6757976,2	Hela-S3	cervix:
9	chr9:6711589..6718151-chr9:6755774..6759657,12	MCF-7	breast:
10	chr9:6706468..6709007-chr9:6764056..6766511,2	MCF-7	breast:
11	chr9:6757988..6759532-chr9:6768470..6771009,2	K562	blood:
12	chr17:4458410..4459064-chr9:6757173..6757817,2	NB4	blood:
13	chr9:6715258..6717463-chr9:6718537..6720528,2	MCF-7	breast:
14	chr9:6749158..6750730-chr9:6754623..6757370,3	K562	blood:
15	chr2:32389334..32390859-chr9:6713099..6716031,2	MCF-7	breast:
16	chr9:6668807..6671531-chr9:6755488..6757060,2	K562	blood:
17	chr9:6747740..6749345-chr9:6756036..6758918,2	MCF-7	breast:
18	chr9:6751286..6753075-chr9:6755508..6757503,2	MCF-7	breast:
19	chr1:78469866..78470559-chr9:6757407..6758029,2	NB4	blood:
20	chr1:24117621..24118528-chr9:6757285..6757921,2	Hela-S3	cervix:
21	chr9:6756506..6759336-chr9:6761694..6766158,6	MCF-7	breast:
22	chr22:39077394..39078187-chr9:6757291..6757887,2	HCT-116	colon:
23	chr9:6679734..6682958-chr9:6730915..6733550,3	MCF-7	breast:
24	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
25	chr9:6411580..6414419-chr9:6755713..6757647,2	K562	blood:
26	chr9:6751286..6753075-chr9:6755508..6757503,2	MCF-7	breast:
27	chr9:6413251..6414875-chr9:6756450..6759044,2	K562	blood:
28	chr7:86781908..86782653-chr9:6757524..6758733,3	Hela-S3	cervix:
29	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
30	chr9:6714844..6717578-chr9:6754943..6759087,4	MCF-7	breast:
31	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
32	chr9:6722888..6726785-chr9:6754807..6757177,3	K562	blood:
33	chr2:219187766..219188395-chr9:6757084..6757687,2	NB4	blood:
34	chr9:6711589..6718151-chr9:6755774..6759657,12	MCF-7	breast:
35	chr9:6714855..6717847-chr9:6737862..6741209,3	MCF-7	breast:
36	chr9:6722888..6726785-chr9:6754807..6757177,3	K562	blood:
37	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
38	chr9:6757021..6759532-chr9:6768470..6771017,3	K562	blood:
39	chr1:100503108..100504085-chr9:6716038..6716673,2	NB4	blood:
40	chr17:45727006..45727831-chr9:6757854..6758764,2	HCT-116	colon:
41	chr9:6725196..6728190-chr9:6756447..6759048,2	MCF-7	breast:
42	chr9:6749158..6750730-chr9:6754623..6757370,3	K562	blood:
43	chr1:63833144..63833741-chr9:6757006..6757570,2	NB4	blood:
44	chr21:41708247..41710641-chr9:6714300..6715810,2	MCF-7	breast:
45	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:
46	chr9:6702551..6705246-chr9:6715022..6717677,6	MCF-7	breast:
47	chr14:51410899..51411829-chr9:6715512..6716484,2	HCT-116	colon:
48	chr9:6749197..6752825-chr9:6755235..6757236,4	K562	blood:
49	chr9:6751679..6753304-chr9:6755614..6757783,2	MCF-7	breast:
50	chr1:201979647..201980421-chr9:6757390..6758317,2	HCT-116	colon:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-1	chr9:6716183-6716616	NONHSAT130157
2	lnc-KDM4C-1	chr9:6717873-6719234	NONHSAT130157
3	lnc-KDM4C-1	chr9:6716196-6716315	NONHSAT130158
4	lnc-GLDC-1	chr9:6748703-6748981	NONHSAT130164
5	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.1
6	lnc-KDM4C-1	chr9:6718965-6718981	ENSG00000225489.2
7	lnc-KDM4C-1	chr9:6718810-6718981	ENSG00000225489.1
8	lnc-KDM4C-1	chr9:6719068-6719154	ENSG00000225489.1
9	lnc-SNRPEP2-1	chr9:6734598-6735076	NONHSAT130163
10	lnc-KDM4C-1	chr9:6717873-6718149	NONHSAT130158
11	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.2
12	lnc-KDM4C-1	chr9:6716548-6716616	ENSG00000225489.1
13	lnc-KDM4C-1	chr9:6716503-6716619	NONHSAT130156
14	lnc-KDM4C-1	chr9:6717873-6718981	ENSG00000225489.1
15	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.2
16	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
17	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.1
18	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.1
19	lnc-KDM4C-1	chr9:6723527-6723630	ENSG00000225489.1
20	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
21	lnc-KDM4C-1	chr9:6716946-6717438	NONHSAT130156
22	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.2
23	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.2
24	lnc-KDM4C-1	chr9:6719071-6719370	ENSG00000225489.1

No data

Variant related genes	Relation type
SNRPEP2	TF binding region
KDM4C	TF binding region
ENSG00000231108	TF binding region
ENSG00000225489	TF binding region
SNRPEP2	CpG island
KDM4C	CpG island
ENSG00000231108	CpG island
ENSG00000225489	CpG island
ENSG00000272716	chromatin interactions
ENSG00000088035	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000228274	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000108424	chromatin interactions
ENSG00000256968	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000132382	chromatin interactions
ENSG00000109861	chromatin interactions
ENSG00000147854	chromatin interactions
ENSG00000149136	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000011009	chromatin interactions
ENSG00000100216	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000127838	chromatin interactions

Extended variants
information (count: 3260 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:3260 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575796266	chr9:6715087-6715088	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs546524178	chr9:6715092-6715093	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs571101071	chr9:6715109-6715110	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs538581000	chr9:6715140-6715141	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556815082	chr9:6715148-6715149	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575169566	chr9:6715158-6715159	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs535885562	chr9:6715213-6715214	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs554509633	chr9:6715222-6715223	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs572857900	chr9:6715226-6715227	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs538011932	chr9:6715241-6715242	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs540322366	chr9:6715289-6715290	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs565521934	chr9:6715294-6715295	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs138057507	chr9:6715308-6715309	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs191703095	chr9:6715312-6715313	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375557988	chr9:6715324-6715325	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs563189331	chr9:6715335-6715336	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs530375886	chr9:6715386-6715387	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs569028768	chr9:6715396-6715397	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs560534465	chr9:6715398-6715399	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs62568250	chr9:6715404-6715405	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184334278	chr9:6715417-6715418	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571135154	chr9:6715418-6715419	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs532197454	chr9:6715436-6715437	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs149536515	chr9:6715438-6715439	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs568821149	chr9:6715452-6715453	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs10975800	chr9:6715453-6715454	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189130812	chr9:6715455-6715456	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs180706910	chr9:6715489-6715490	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs533686047	chr9:6715490-6715491	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs10975801	chr9:6715564-6715565	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576976637	chr9:6715572-6715573	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs373159513	chr9:6715583-6715584	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs112748321	chr9:6715595-6715596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs556744747	chr9:6715610-6715611	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs575073988	chr9:6715679-6715680	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs10975802	chr9:6715681-6715682	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7865244	chr9:6715730-6715731	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs527663449	chr9:6715796-6715797	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs545764083	chr9:6715847-6715848	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs564256588	chr9:6715857-6715858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs185960342	chr9:6715932-6715933	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs550364511	chr9:6715961-6715962	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs190513390	chr9:6716010-6716011	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs10975804	chr9:6716012-6716013	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548451095	chr9:6716020-6716021	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs147251726	chr9:6716047-6716048	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs10975805	chr9:6716048-6716049	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550475557	chr9:6716054-6716055	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs368916262	chr9:6716062-6716063	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs561041895	chr9:6716069-6716070	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6711800-6715800	Weak transcription	NH-A	brain
2	chr9:6711800-6716400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:6712000-6715800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:6712200-6715800	Weak transcription	NHLF	lung
5	chr9:6712400-6715400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:6712600-6715400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:6712800-6715600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:6713600-6715600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr9:6714600-6715200	Enhancers	Liver	Liver
10	chr9:6714600-6715600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:6714600-6715600	Weak transcription	Fetal Intestine Large	intestine
12	chr9:6714800-6715200	Enhancers	HepG2	liver
13	chr9:6715000-6715400	Enhancers	Pancreas	Pancrea
14	chr9:6715200-6715400	Flanking Active TSS	Liver	Liver
15	chr9:6715200-6715600	Enhancers	Placenta	Placenta
16	chr9:6715200-6715600	Enhancers	Stomach Mucosa	stomach
17	chr9:6715200-6715600	Enhancers	GM12878-XiMat	blood
18	chr9:6715200-6715800	Flanking Active TSS	HepG2	liver
19	chr9:6715400-6715600	Enhancers	Primary B cells from cord blood	blood
20	chr9:6715400-6715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:6715400-6715600	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:6715400-6715600	Enhancers	Fetal Intestine Small	intestine
23	chr9:6715400-6715600	Weak transcription	Lung	lung
24	chr9:6715400-6715600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr9:6715400-6715800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr9:6715400-6716000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr9:6715400-6716600	Active TSS	Liver	Liver
28	chr9:6715400-6717200	Active TSS	Pancreas	Pancrea
29	chr9:6715600-6715800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:6715600-6715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:6715600-6715800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:6715600-6715800	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:6715600-6715800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr9:6715600-6715800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:6715600-6715800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr9:6715600-6715800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:6715600-6715800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:6715600-6715800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:6715600-6715800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:6715600-6715800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:6715600-6715800	Enhancers	Esophagus	oesophagus
42	chr9:6715600-6715800	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr9:6715600-6715800	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr9:6715600-6715800	Active TSS	Fetal Stomach	stomach
45	chr9:6715600-6715800	Enhancers	Lung	lung
46	chr9:6715600-6715800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr9:6715600-6715800	Active TSS	GM12878-XiMat	blood
48	chr9:6715600-6716000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr9:6715600-6716000	Flanking Active TSS	Placenta	Placenta
50	chr9:6715600-6716400	Active TSS	Primary neutrophils fromperipheralblood	blood

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