Variant report

Variant	nsv894104
Chromosome Location	chr9:136399075-136442192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:595)
CpG islands
(count:1346)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:136424020-136424220	K562	blood:	n/a	n/a
2	ATF1	chr9:136423934-136424271	K562	blood:	n/a	n/a
3	ATF2	chr9:136423318-136423677	GM12878	blood:	n/a	n/a
4	ATF2	chr9:136423959-136424216	GM12878	blood:	n/a	n/a
5	ATF3	chr9:136423977-136424341	K562	blood:	n/a	n/a
6	BACH1	chr9:136398889-136399170	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:136406003-136406199	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr9:136423826-136424344	H1-hESC	embryonic stem cell:	n/a	chr9:136424130-136424144
9	BCL3	chr9:136423867-136424210	GM12878	blood:	n/a	chr9:136424132-136424141 chr9:136424133-136424142
10	BCL3	chr9:136428480-136428761	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:136423309-136424211	GM12878	blood:	n/a	chr9:136423334-136423350
12	BHLHE40	chr9:136442166-136442265	K562	blood:	n/a	n/a
13	BHLHE40	chr9:136404213-136404262	K562	blood:	n/a	n/a
14	BHLHE40	chr9:136409011-136409072	K562	blood:	n/a	n/a
15	BHLHE40	chr9:136423556-136424217	K562	blood:	n/a	n/a
16	BHLHE40	chr9:136399241-136399863	HepG2	liver:	n/a	chr9:136399644-136399660 chr9:136399631-136399647 chr9:136399641-136399657
17	BHLHE40	chr9:136412013-136412014	K562	blood:	n/a	n/a
18	BRCA1	chr9:136423739-136423792	GM12878	blood:	n/a	n/a
19	CBX3	chr9:136423753-136424247	K562	blood:	n/a	n/a
20	CCNT2	chr9:136423438-136423570	K562	blood:	n/a	n/a
21	CEBPB	chr9:136423897-136424273	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr9:136423811-136424267	IMR90	lung:	n/a	n/a
23	CHD1	chr9:136423420-136423461	GM12878	blood:	n/a	n/a
24	CHD1	chr9:136423340-136424600	IMR90	lung:	n/a	n/a
25	CHD1	chr9:136405840-136405845	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr9:136423408-136423537	GM12878	blood:	n/a	n/a
27	CHD2	chr9:136400008-136400032	HepG2	liver:	n/a	n/a
28	CHD2	chr9:136405912-136405973	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr9:136399312-136400329	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:136405860-136406010	GM12865	blood:	n/a	chr9:136405916-136405929
31	CTCF	chr9:136418340-136418465	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:136405786-136406168	GM12892	blood:	n/a	chr9:136405916-136405929
33	CTCF	chr9:136406040-136406116	GM19239	blood:	n/a	n/a
34	CTCF	chr9:136418320-136418470	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr9:136438020-136438170	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr9:136405855-136405933	GM20000	blood:	n/a	chr9:136405916-136405929
37	CTCF	chr9:136429484-136429647	GM10266	blood:	n/a	n/a
38	CTCF	chr9:136418280-136418430	NHEK	skin:	n/a	n/a
39	CTCF	chr9:136423640-136423790	BE2_C	brain:	n/a	n/a
40	CTCF	chr9:136418280-136418430	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr9:136418342-136418469	GM12891	blood:	n/a	n/a
42	CTCF	chr9:136400200-136400350	HepG2	liver:	n/a	n/a
43	CTCF	chr9:136405880-136406030	GM12867	blood:	n/a	chr9:136405916-136405929
44	CTCF	chr9:136418332-136418475	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:136429689-136429856	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr9:136418360-136418510	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr9:136405721-136406074	K562	blood:	n/a	chr9:136405916-136405929
48	CTCF	chr9:136429673-136429841	Lung_OC	lung:	n/a	n/a
49	CTCF	chr9:136430800-136430950	HMF	breast:	n/a	n/a
50	CTCF	chr9:136430760-136430910	HPAF	blood vessel:	n/a	n/a

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136430793-136430843	AG10803	skin:	n/a
2	chr9:136418759-136418809	GM19239	blood:	n/a
3	chr9:136431882-136431932	A549	lung:	n/a
4	chr9:136431882-136431932	U87	brain:	n/a
5	chr9:136430793-136430843	AG10803	skin:	n/a
6	chr9:136418759-136418809	GM19239	blood:	n/a
7	chr9:136431882-136431932	A549	lung:	n/a
8	chr9:136431882-136431932	U87	brain:	n/a
9	chr9:136430793-136430843	RPTEC	kidney:	n/a
10	chr9:136435554-136435604	PFSK-1	brain:	n/a
11	chr9:136400057-136400107	MCF10A-Er-Src	breast:	n/a
12	chr9:136435554-136435604	HRPEpiC	eye:	n/a
13	chr9:136435554-136435604	GM06990	blood:	n/a
14	chr9:136399386-136399436	PrEC	prostate:	n/a
15	chr9:136434290-136434340	HIPEpiC	eye:	n/a
16	chr9:136433277-136433327	AG09309	skin:	n/a
17	chr9:136424187-136424237	HPAEpiC	pulmonary alveolar:	n/a
18	chr9:136401278-136401328	HEEpiC	esophagus:	n/a
19	chr9:136399808-136399858	HL-60	blood:	n/a
20	chr9:136428028-136428078	H1-hESC	embryonic stem cell:	embryo
21	chr9:136419751-136419801	AG09309	skin:	n/a
22	chr9:136427386-136427436	HAEpiC	amniotic membrane:	n/a
23	chr9:136400057-136400107	ovcar-3	ovarian:	n/a
24	chr9:136440350-136440400	HPAEpiC	pulmonary alveolar:	n/a
25	chr9:136433381-136433431	HCF	heart:	n/a
26	chr9:136428141-136428191	HCPEpiC	choroid plexus:	n/a
27	chr9:136440350-136440400	Hela-S3	cervix:	n/a
28	chr9:136427386-136427436	PANC-1	pancreas:	n/a
29	chr9:136420335-136420385	PANC-1	pancreas:	n/a
30	chr9:136433277-136433327	MCF10A-Er-Src	breast:	n/a
31	chr9:136427386-136427436	AG04449	skin:	fetal
32	chr9:136400057-136400107	HMEC	breast:	n/a
33	chr9:136430793-136430843	ProgFib	skin:	n/a
34	chr9:136399386-136399436	Caco-2	colon:	n/a
35	chr9:136430793-136430843	GM06990	blood:	n/a
36	chr9:136399386-136399436	AG10803	skin:	n/a
37	chr9:136399808-136399858	HUVEC	blood vessel:	n/a
38	chr9:136433277-136433327	BE2_C	brain:	n/a
39	chr9:136434290-136434340	HL-60	blood:	n/a
40	chr9:136430793-136430843	HRPEpiC	eye:	n/a
41	chr9:136417855-136417905	RPTEC	kidney:	n/a
42	chr9:136424187-136424237	CMK	blood:	n/a
43	chr9:136433277-136433327	SK-N-SH_RA	brain:	n/a
44	chr9:136403935-136403985	SK-N-MC	brain:	n/a
45	chr9:136422991-136423041	RPTEC	kidney:	n/a
46	chr9:136420335-136420385	HepG2	liver:	n/a
47	chr9:136426190-136426240	BJ	skin:	n/a
48	chr9:136399808-136399858	PFSK-1	brain:	n/a
49	chr9:136399808-136399858	U87	brain:	n/a
50	chr9:136431882-136431932	HNPCEpiC	eye:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136427023..136428605-chr9:136430337..136432524,2	K562	blood:
2	chr9:136439640..136441835-chr9:136445764..136448445,2	MCF-7	breast:
3	chr9:136427429..136429735-chr9:136433260..136434846,2	MCF-7	breast:
4	chr9:136284031..136285618-chr9:136413284..136415355,2	K562	blood:
5	chr9:136415018..136417786-chr9:136420917..136423666,2	K562	blood:
6	chr9:136402977..136405451-chr9:136425010..136427142,2	MCF-7	breast:
7	chr9:136406774..136409474-chr9:136416167..136419812,3	MCF-7	breast:
8	chr9:136437478..136438992-chr9:136447328..136450014,2	K562	blood:
9	chr9:136406344..136408415-chr9:136524304..136526688,2	MCF-7	breast:
10	chr9:136434525..136437369-chr9:136447515..136449706,2	K562	blood:
11	chr9:136402977..136405451-chr9:136425010..136427142,2	MCF-7	breast:
12	chr9:136430693..136432498-chr9:136432851..136435446,3	MCF-7	breast:
13	chr9:136396981..136398679-chr9:136401655..136403271,2	K562	blood:
14	chr9:136402633..136404367-chr9:136404847..136407509,2	K562	blood:
15	chr9:136416214..136420164-chr9:136420757..136424152,3	K562	blood:
16	chr9:136397720..136400181-chr9:136419305..136422239,2	K562	blood:
17	chr9:136422461..136424227-chr9:136441415..136443429,2	K562	blood:
18	chr9:136439037..136442874-chr9:136444597..136447023,4	MCF-7	breast:
19	chr9:136406774..136409474-chr9:136416167..136419812,3	MCF-7	breast:
20	chr9:136403131..136404818-chr9:136421195..136424050,2	K562	blood:
21	chr9:136403131..136404818-chr9:136421195..136424050,2	K562	blood:
22	chr3:193875301..193878281-chr9:136442150..136444484,2	MCF-7	breast:
23	chr9:136438649..136440843-chr9:136441828..136443871,2	MCF-7	breast:
24	chr9:136438649..136440843-chr9:136441828..136443871,2	MCF-7	breast:
25	chr9:136441642..136444313-chr9:136456568..136458587,2	MCF-7	breast:
26	chr9:136401564..136404417-chr9:136570647..136572781,2	K562	blood:
27	chr9:136425205..136427536-chr9:136447353..136448968,2	K562	blood:
28	chr9:136430693..136432498-chr9:136432851..136435446,3	MCF-7	breast:
29	chr9:136415018..136417786-chr9:136420917..136423666,2	K562	blood:
30	chr9:136412892..136414464-chr9:136438431..136440228,2	MCF-7	breast:
31	chr9:136427429..136429735-chr9:136433260..136434846,2	MCF-7	breast:
32	chr9:136407885..136411641-chr9:136412160..136417622,5	K562	blood:
33	chr9:136407885..136411641-chr9:136412160..136417622,5	K562	blood:
34	chr9:136420115..136422179-chr9:136562100..136563900,2	MCF-7	breast:
35	chr9:136416214..136420164-chr9:136420757..136424152,3	K562	blood:
36	chr9:136422461..136424227-chr9:136441415..136443429,2	K562	blood:
37	chr9:136402633..136404367-chr9:136404847..136407509,2	K562	blood:
38	chr9:136427023..136428605-chr9:136430337..136432524,2	K562	blood:
39	chr9:136412892..136414464-chr9:136438431..136440228,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL2	TF binding region
ADAMTSL2	CpG island
ENSG00000197859	chromatin interactions
ENSG00000196990	chromatin interactions

Extended variants
information (count: 1385 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1385 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9696672	chr9:136399075-136399076	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548051460	chr9:136399097-136399098	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575669879	chr9:136399181-136399182	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117458215	chr9:136399191-136399192	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561273309	chr9:136399239-136399240	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386739154	chr9:136399315-136399316	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs142086415	chr9:136399332-136399333	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559258978	chr9:136399338-136399339	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs80159622	chr9:136399342-136399343	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs72779235	chr9:136399355-136399356	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563369553	chr9:136399377-136399378	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552442605	chr9:136399392-136399393	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs148849067	chr9:136399393-136399394	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs188309691	chr9:136399419-136399420	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs530524293	chr9:136399437-136399438	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78654340	chr9:136399453-136399454	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554918292	chr9:136399455-136399456	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566966455	chr9:136399476-136399477	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370388358	chr9:136399478-136399479	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374414892	chr9:136399506-136399507	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547301966	chr9:136399508-136399509	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575997493	chr9:136399514-136399515	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs149528625	chr9:136399523-136399524	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571860636	chr9:136399539-136399540	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376148923	chr9:136399545-136399546	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs539194191	chr9:136399592-136399593	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557272230	chr9:136399609-136399610	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569292040	chr9:136399632-136399633	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536783042	chr9:136399636-136399637	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368425229	chr9:136399672-136399673	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554999581	chr9:136399698-136399699	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573301887	chr9:136399771-136399772	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs541316193	chr9:136399808-136399809	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs553198580	chr9:136399812-136399813	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs577882796	chr9:136399823-136399824	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs545141937	chr9:136399847-136399848	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs563347015	chr9:136399861-136399862	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530514930	chr9:136399895-136399896	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs542363220	chr9:136399924-136399925	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560527588	chr9:136399956-136399957	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs539826426	chr9:136399976-136399977	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs546297514	chr9:136399979-136399980	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs571861928	chr9:136399994-136399995	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs544535473	chr9:136400001-136400002	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs193056157	chr9:136400013-136400014	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs532701486	chr9:136400043-136400044	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs144269424	chr9:136400158-136400159	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs569518156	chr9:136400184-136400185	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs371887868	chr9:136400265-136400266	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536722575	chr9:136400273-136400274	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1607 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136393600-136399400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr9:136394200-136399200	Weak transcription	Left Ventricle	heart
3	chr9:136394200-136399200	Weak transcription	Pancreas	Pancrea
4	chr9:136394400-136399200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr9:136394600-136399200	Weak transcription	Fetal Heart	heart
6	chr9:136397600-136399200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr9:136397600-136399200	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:136397600-136399200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr9:136397600-136399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr9:136397600-136399200	Enhancers	Brain Substantia Nigra	brain
11	chr9:136397600-136399200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr9:136397800-136399200	Enhancers	Liver	Liver
13	chr9:136397800-136399200	Enhancers	Brain Hippocampus Middle	brain
14	chr9:136397800-136399600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr9:136397800-136399600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr9:136397800-136400400	Enhancers	HSMM	muscle
17	chr9:136398000-136399200	Enhancers	Brain Germinal Matrix	brain
18	chr9:136398000-136399200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:136398000-136399200	Enhancers	Right Atrium	heart
20	chr9:136398000-136399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:136398000-136399400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:136398000-136399600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr9:136398000-136399800	Enhancers	Brain Angular Gyrus	brain
24	chr9:136398000-136400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:136398000-136400200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr9:136398000-136400200	Bivalent Enhancer	Placenta	Placenta
27	chr9:136398000-136400200	Enhancers	HSMMtube	muscle
28	chr9:136398200-136399200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:136398200-136399200	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:136398200-136399400	Bivalent Enhancer	Thymus	Thymus
31	chr9:136398200-136399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr9:136398200-136399800	Enhancers	Fetal Lung	lung
33	chr9:136398200-136402000	Enhancers	Fetal Brain Male	brain
34	chr9:136398400-136399200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:136398400-136399200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr9:136398400-136399400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr9:136398400-136399400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr9:136398400-136399400	Enhancers	Colon Smooth Muscle	Colon
39	chr9:136398400-136400000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:136398400-136400000	Bivalent Enhancer	Fetal Stomach	stomach
41	chr9:136398600-136399200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
42	chr9:136398600-136399200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr9:136398600-136399200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr9:136398600-136399200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr9:136398600-136399200	Bivalent Enhancer	Fetal Thymus	thymus
46	chr9:136398600-136399400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr9:136398600-136399400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr9:136398600-136399400	Enhancers	Fetal Kidney	kidney
49	chr9:136398600-136399400	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr9:136398600-136399600	Bivalent Enhancer	Primary B cells from cord blood	blood

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