Variant report

Variant	esv1830036
Chromosome Location	chr3:20121828-20278275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1593)
CpG islands
(count:1222)
Chromatin interactive
region (count:144)
LncRNA
region (count:12)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:1593 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
2	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
3	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
4	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
5	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
6	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
7	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
8	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
9	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
10	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
11	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
12	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
13	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
14	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
15	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
16	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
18	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
19	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
21	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
22	BATF	chr3:20277377-20277645	GM12878	blood:	n/a	n/a
23	BATF	chr3:20167468-20167777	GM12878	blood:	n/a	n/a
24	BATF	chr3:20167475-20167827	GM12878	blood:	n/a	chr3:20167811-20167819
25	BCL11A	chr3:20167373-20167761	GM12878	blood:	n/a	n/a
26	BCL11A	chr3:20167426-20167745	GM12878	blood:	n/a	n/a
27	BCL11A	chr3:20263785-20264058	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL11A	chr3:20263779-20264109	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCL3	chr3:20227304-20227885	A549	lung:	n/a	n/a
30	BCLAF1	chr3:20227146-20228169	GM12878	blood:	n/a	n/a
31	BCLAF1	chr3:20167417-20167858	GM12878	blood:	n/a	n/a
32	BCLAF1	chr3:20227123-20228281	GM12878	blood:	n/a	n/a
33	BCLAF1	chr3:20167291-20167861	GM12878	blood:	n/a	n/a
34	BHLHE40	chr3:20227167-20228366	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:20122538-20123034	K562	blood:	n/a	n/a
36	BHLHE40	chr3:20167225-20167843	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:20227454-20228139	HepG2	liver:	n/a	n/a
38	BHLHE40	chr3:20122594-20122973	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:20227627-20227958	A549	lung:	n/a	n/a
40	BHLHE40	chr3:20145419-20146172	GM12878	blood:	n/a	n/a
41	BHLHE40	chr3:20188531-20188551	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:20226943-20228838	K562	blood:	n/a	n/a
43	BRCA1	chr3:20227548-20228269	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr3:20139833-20139877	HepG2	liver:	n/a	n/a
45	BRCA1	chr3:20227654-20228038	HepG2	liver:	n/a	n/a
46	CBX3	chr3:20227437-20228131	K562	blood:	n/a	n/a
47	CBX3	chr3:20122564-20123002	K562	blood:	n/a	n/a
48	CBX3	chr3:20226778-20228315	K562	blood:	n/a	n/a
49	CBX3	chr3:20239197-20239673	HCT-116	colon:	n/a	n/a
50	CCNT2	chr3:20122410-20122485	K562	blood:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20228976-20229026	GM12891	blood:	n/a
2	chr3:20227925-20227975	Jurkat	blood:	n/a
3	chr3:20228976-20229026	GM12891	blood:	n/a
4	chr3:20227925-20227975	Jurkat	blood:	n/a
5	chr3:20195067-20195117	U87	brain:	n/a
6	chr3:20227670-20227720	HIPEpiC	eye:	n/a
7	chr3:20227925-20227975	HCPEpiC	choroid plexus:	n/a
8	chr3:20195067-20195117	NH-A	brain:	n/a
9	chr3:20226994-20227044	LNCaP	prostate:	n/a
10	chr3:20195067-20195117	MCF10A-Er-Src	breast:	n/a
11	chr3:20226994-20227044	PFSK-1	brain:	n/a
12	chr3:20223923-20223973	U87	brain:	n/a
13	chr3:20228976-20229026	H1-hESC	embryonic stem cell:	embryo
14	chr3:20228976-20229026	Hela-S3	cervix:	n/a
15	chr3:20227670-20227720	T-47D	breast:	n/a
16	chr3:20227940-20227990	HMEC	breast:	n/a
17	chr3:20231061-20231111	AG10803	skin:	n/a
18	chr3:20227670-20227720	MCF-7	breast:	n/a
19	chr3:20195067-20195117	HRPEpiC	eye:	n/a
20	chr3:20226994-20227044	SKMC	muscle:	n/a
21	chr3:20226994-20227044	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:20202403-20202453	ProgFib	skin:	n/a
23	chr3:20227059-20227109	AG09319	gingival:	n/a
24	chr3:20202403-20202453	IMR90	lung:	fetal
25	chr3:20227789-20227839	U87	brain:	n/a
26	chr3:20227809-20227859	ovcar-3	ovarian:	n/a
27	chr3:20183665-20183715	SK-N-MC	brain:	n/a
28	chr3:20227091-20227141	Jurkat	blood:	n/a
29	chr3:20227663-20227713	PANC-1	pancreas:	n/a
30	chr3:20227789-20227839	HCF	heart:	n/a
31	chr3:20195067-20195117	ECC-1	luminal epithelium:	n/a
32	chr3:20227091-20227141	Caco-2	colon:	n/a
33	chr3:20227663-20227713	CMK	blood:	n/a
34	chr3:20226964-20227014	AG09309	skin:	n/a
35	chr3:20227091-20227141	HNPCEpiC	eye:	n/a
36	chr3:20183665-20183715	MCF-7	breast:	n/a
37	chr3:20227397-20227447	GM12892	blood:	n/a
38	chr3:20228976-20229026	NT2-D1	testis:	n/a
39	chr3:20227670-20227720	ECC-1	luminal epithelium:	n/a
40	chr3:20226964-20227014	GM06990	blood:	n/a
41	chr3:20227789-20227839	A549	lung:	n/a
42	chr3:20227940-20227990	HIPEpiC	eye:	n/a
43	chr3:20227801-20227851	AG09319	gingival:	n/a
44	chr3:20227822-20227872	HPAEpiC	pulmonary alveolar:	n/a
45	chr3:20226964-20227014	NH-A	brain:	n/a
46	chr3:20227925-20227975	GM12878	blood:	n/a
47	chr3:20227809-20227859	A549	lung:	n/a
48	chr3:20227822-20227872	IMR90	lung:	fetal
49	chr3:20227397-20227447	GM12878	blood:	n/a
50	chr3:20223923-20223973	HCM	heart:	n/a

(count:144 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
2	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
3	chr3:20213813..20216501-chr3:20227432..20229116,2	MCF-7	breast:
4	chr3:20197127..20199080-chr3:20208900..20210840,2	MCF-7	breast:
5	chr3:20138475..20140475-chr3:20146667..20148276,2	K562	blood:
6	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
7	chr3:20161409..20163112-chr3:20165671..20167276,2	MCF-7	breast:
8	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
9	chr15:42565172..42565968-chr3:20227231..20227766,2	Hela-S3	cervix:
10	chr3:20123056..20125408-chr3:20133416..20135559,2	MCF-7	breast:
11	chr3:20131147..20133455-chr3:20135064..20136948,2	K562	blood:
12	chr3:20144778..20146752-chr3:20150014..20154937,5	K562	blood:
13	chr3:20227937..20230614-chr3:20238703..20240365,2	K562	blood:
14	chr3:20212661..20217850-chr3:20224065..20229766,9	K562	blood:
15	chr3:20161409..20163112-chr3:20165671..20167276,2	MCF-7	breast:
16	chr3:20161536..20163874-chr3:20167611..20170613,5	K562	blood:
17	chr13:113841278..113842020-chr3:20226671..20227468,2	Hela-S3	cervix:
18	chr3:20152631..20154314-chr3:20157026..20159607,2	K562	blood:
19	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
20	chr3:20079993..20081743-chr3:20205055..20207823,2	MCF-7	breast:
21	chr3:19987774..19989392-chr3:20231819..20233380,2	MCF-7	breast:
22	chr3:20080805..20083716-chr3:20136030..20137757,2	K562	blood:
23	chr3:20114096..20116899-chr3:20125846..20128363,2	MCF-7	breast:
24	chr3:20193485..20196421-chr3:20205590..20208525,2	K562	blood:
25	chr1:144533777..144534760-chr3:20227219..20227949,2	Hela-S3	cervix:
26	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
27	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
28	chr3:20158113..20160465-chr3:20226227..20229427,3	K562	blood:
29	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
30	chr3:20119888..20122634-chr3:20122993..20124532,2	K562	blood:
31	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
32	chr3:20223638..20225446-chr3:20225885..20227918,2	MCF-7	breast:
33	chr3:20029851..20032501-chr3:20180308..20182516,2	K562	blood:
34	chr3:20096664..20098215-chr3:20134683..20136839,2	K562	blood:
35	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
36	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:
37	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
38	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
39	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
40	chr3:20209340..20212001-chr3:20214407..20216140,2	K562	blood:
41	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
42	chr3:19987980..19990853-chr3:20225710..20227616,2	MCF-7	breast:
43	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
44	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
45	chr3:20212391..20215096-chr3:20215867..20218986,3	K562	blood:
46	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
47	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
48	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
49	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
50	chr3:20193485..20196421-chr3:20205590..20208525,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
2	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
3	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
4	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
5	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
6	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
7	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
8	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
9	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
10	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
11	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
12	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
2	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
3	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
4	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
5	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
6	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
7	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
8	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
9	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
10	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
11	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
12	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
13	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
14	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772

Variant related genes	Relation type
KAT2B	TF binding region
MIR3135A	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
MIR3135A	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000237485	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000117625	chromatin interactions

Extended variants
information (count: 6012 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:6012 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11714225	chr3:20121828-20121829	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568417268	chr3:20121868-20121869	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576876118	chr3:20121895-20121896	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183933900	chr3:20121903-20121904	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541306874	chr3:20121939-20121940	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559656841	chr3:20121993-20121994	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531529833	chr3:20122013-20122014	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111703472	chr3:20122037-20122038	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563910439	chr3:20122046-20122047	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531267465	chr3:20122071-20122072	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549887759	chr3:20122100-20122101	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564870872	chr3:20122101-20122102	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188821811	chr3:20122108-20122109	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191246626	chr3:20122195-20122196	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73181611	chr3:20122261-20122262	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11128934	chr3:20122315-20122316	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375064127	chr3:20122333-20122334	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572281284	chr3:20122364-20122365	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569839251	chr3:20122408-20122409	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541294090	chr3:20122411-20122412	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560974776	chr3:20122436-20122437	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537148064	chr3:20122495-20122496	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574679046	chr3:20122501-20122502	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558657332	chr3:20122502-20122503	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576812822	chr3:20122541-20122542	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534667067	chr3:20122567-20122568	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375377593	chr3:20122573-20122574	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552972107	chr3:20122592-20122593	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77947005	chr3:20122601-20122602	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542519013	chr3:20122631-20122632	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs151153098	chr3:20122642-20122643	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141133935	chr3:20122667-20122668	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182493526	chr3:20122680-20122681	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565006409	chr3:20122731-20122732	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532258818	chr3:20122740-20122741	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs118097078	chr3:20122756-20122757	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369627172	chr3:20122781-20122782	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559391341	chr3:20122804-20122805	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529902973	chr3:20122807-20122808	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548501456	chr3:20122830-20122831	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs6800250	chr3:20122831-20122832	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73822403	chr3:20122859-20122860	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551970109	chr3:20122873-20122874	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570586428	chr3:20122879-20122880	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534796402	chr3:20122926-20122927	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552908764	chr3:20122940-20122941	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs187131732	chr3:20123002-20123003	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191893208	chr3:20123011-20123012	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9856052	chr3:20123014-20123015	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1879775	chr3:20123099-20123100	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2811 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:20099400-20122800	Weak transcription	Lung	lung
4	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
8	chr3:20107000-20122600	Weak transcription	Gastric	stomach
9	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
10	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
13	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
14	chr3:20108200-20127600	Weak transcription	Ovary	ovary
15	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
17	chr3:20110200-20122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:20110800-20122000	Weak transcription	Stomach Mucosa	stomach
19	chr3:20111000-20122600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:20113400-20122600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:20113400-20122600	Weak transcription	HSMMtube	muscle
22	chr3:20113600-20122000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:20113600-20122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:20113600-20122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:20114200-20122000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:20114800-20122600	Weak transcription	Fetal Stomach	stomach
27	chr3:20115000-20122400	Weak transcription	HepG2	liver
28	chr3:20115400-20127200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:20115600-20122600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:20115800-20122600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:20116200-20122600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:20116400-20122600	Weak transcription	Hela-S3	cervix
33	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
34	chr3:20117200-20130800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:20117400-20122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:20117400-20122600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:20118600-20122000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:20118800-20122600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:20118800-20122600	Weak transcription	K562	blood
40	chr3:20118800-20129200	Weak transcription	Fetal Lung	lung
41	chr3:20119000-20122200	Weak transcription	GM12878-XiMat	blood
42	chr3:20119000-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:20119000-20122600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:20119000-20122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:20119000-20123200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:20120200-20122600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:20120200-20124200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:20120600-20123200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:20120800-20122600	Strong transcription	Primary B cells from cord blood	blood
50	chr3:20120800-20122600	Enhancers	Brain Substantia Nigra	brain

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