Variant report

Variant	nsv470450
Chromosome Location	chr3:20096735-20389045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2669)
CpG islands
(count:1403)
Chromatin interactive
region (count:223)
LncRNA
region (count:18)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:2669 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20102456-20102678	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
3	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
5	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
6	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
7	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
9	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
10	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
11	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
12	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
13	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
14	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
15	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
16	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
17	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
18	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
19	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
20	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
21	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
25	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
26	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
27	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
28	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
29	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
30	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
32	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
33	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
34	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
35	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
36	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
38	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
39	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
40	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
41	BATF	chr3:20288158-20288422	GM12878	blood:	n/a	chr3:20288290-20288301
42	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301
43	BATF	chr3:20277377-20277645	GM12878	blood:	n/a	n/a
44	BATF	chr3:20167468-20167777	GM12878	blood:	n/a	n/a
45	BATF	chr3:20167475-20167827	GM12878	blood:	n/a	chr3:20167811-20167819
46	BATF	chr3:20098660-20098987	GM12878	blood:	n/a	chr3:20098865-20098876
47	BATF	chr3:20098688-20099122	GM12878	blood:	n/a	chr3:20098865-20098876
48	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
49	BCL11A	chr3:20098689-20099052	GM12878	blood:	n/a	n/a
50	BCL11A	chr3:20167373-20167761	GM12878	blood:	n/a	n/a

(count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20227789-20227839	T-47D	breast:	n/a
2	chr3:20227801-20227851	GM06990	blood:	n/a
3	chr3:20227809-20227859	HCM	heart:	n/a
4	chr3:20227397-20227447	BE2_C	brain:	n/a
5	chr3:20371290-20371340	U87	brain:	n/a
6	chr3:20227789-20227839	LNCaP	prostate:	n/a
7	chr3:20223923-20223973	Hela-S3	cervix:	n/a
8	chr3:20371290-20371340	NHDF-neo	bronchial:	n/a
9	chr3:20226994-20227044	HRPEpiC	eye:	n/a
10	chr3:20183665-20183715	Hela-S3	cervix:	n/a
11	chr3:20115681-20115731	AG09319	gingival:	n/a
12	chr3:20202403-20202453	NHBE	bronchial:	n/a
13	chr3:20115681-20115731	BJ	skin:	n/a
14	chr3:20227822-20227872	K562	blood:	n/a
15	chr3:20231061-20231111	NHDF-neo	bronchial:	n/a
16	chr3:20227822-20227872	HEEpiC	esophagus:	n/a
17	chr3:20202403-20202453	HAEpiC	amniotic membrane:	n/a
18	chr3:20227925-20227975	AoSMC	blood vessel:	n/a
19	chr3:20115681-20115731	AoSMC	blood vessel:	n/a
20	chr3:20227091-20227141	SK-N-MC	brain:	n/a
21	chr3:20202403-20202453	ECC-1	luminal epithelium:	n/a
22	chr3:20195067-20195117	Hela-S3	cervix:	n/a
23	chr3:20227822-20227872	NHDF-neo	bronchial:	n/a
24	chr3:20231061-20231111	AG09319	gingival:	n/a
25	chr3:20227801-20227851	HRE	kidney:	n/a
26	chr3:20226964-20227014	HEEpiC	esophagus:	n/a
27	chr3:20227809-20227859	ProgFib	skin:	n/a
28	chr3:20227809-20227859	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:20195067-20195117	SKMC	muscle:	n/a
30	chr3:20227822-20227872	ovcar-3	ovarian:	n/a
31	chr3:20227059-20227109	GM12878	blood:	n/a
32	chr3:20227789-20227839	PrEC	prostate:	n/a
33	chr3:20115681-20115731	GM19239	blood:	n/a
34	chr3:20227670-20227720	HEEpiC	esophagus:	n/a
35	chr3:20228976-20229026	GM12878	blood:	n/a
36	chr3:20227516-20227566	GM06990	blood:	n/a
37	chr3:20227670-20227720	PFSK-1	brain:	n/a
38	chr3:20227059-20227109	PANC-1	pancreas:	n/a
39	chr3:20227670-20227720	GM06990	blood:	n/a
40	chr3:20227059-20227109	ProgFib	skin:	n/a
41	chr3:20226964-20227014	AG09309	skin:	n/a
42	chr3:20223923-20223973	PANC-1	pancreas:	n/a
43	chr3:20321584-20321634	AoSMC	blood vessel:	n/a
44	chr3:20223923-20223973	IMR90	lung:	fetal
45	chr3:20227822-20227872	HCF	heart:	n/a
46	chr3:20115681-20115731	Hepatocyte	liver:	n/a
47	chr3:20227663-20227713	Hela-S3	cervix:	n/a
48	chr3:20227801-20227851	GM12891	blood:	n/a
49	chr3:20223923-20223973	BE2_C	brain:	n/a
50	chr3:20227059-20227109	MCF10A-Er-Src	breast:	n/a

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr3:20114096..20116899-chr3:20125846..20128363,2	MCF-7	breast:
2	chr3:19971963..19973820-chr3:20118218..20121203,2	K562	blood:
3	chr3:19986031..19988662-chr3:20137303..20140134,2	MCF-7	breast:
4	chr3:20070139..20072649-chr3:20135219..20138030,2	K562	blood:
5	chr3:20346246..20348359-chr3:20361269..20362788,2	K562	blood:
6	chr3:20121220..20122803-chr3:20153116..20155641,2	MCF-7	breast:
7	chr3:20108340..20110457-chr3:20115203..20117134,2	K562	blood:
8	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
9	chr3:19987687..19990266-chr3:20104517..20106901,2	K562	blood:
10	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
11	chr3:20225982..20227551-chr3:20349845..20352725,2	K562	blood:
12	chr3:20346246..20348359-chr3:20361269..20362788,2	K562	blood:
13	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
14	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
15	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
16	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
17	chr3:20218894..20221253-chr3:20226177..20229116,2	MCF-7	breast:
18	chr3:20080561..20082085-chr3:20114269..20116399,2	K562	blood:
19	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
20	chr3:20144778..20146752-chr3:20150014..20154937,5	K562	blood:
21	chr3:20111734..20113270-chr3:20113749..20115921,2	K562	blood:
22	chr3:20223638..20225446-chr3:20225885..20227918,2	MCF-7	breast:
23	chr3:20197490..20199260-chr3:20227955..20230018,2	K562	blood:
24	chr3:20080757..20082677-chr3:20192981..20195193,2	K562	blood:
25	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
26	chr3:19987552..19989415-chr3:20155282..20158002,2	MCF-7	breast:
27	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
28	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
29	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:
30	chr3:20118517..20120600-chr3:20130067..20133062,2	K562	blood:
31	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
32	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
33	chr3:20213813..20216501-chr3:20227432..20229116,2	MCF-7	breast:
34	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
35	chr3:20092001..20094712-chr3:20096791..20098373,2	K562	blood:
36	chr3:20079315..20082168-chr3:20133365..20135134,2	K562	blood:
37	chr3:19987745..19989859-chr3:20175809..20177957,2	K562	blood:
38	chr3:20378280..20380658-chr3:21571258..21574044,2	K562	blood:
39	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
40	chr3:20381603..20382455-chr3:22159036..22159808,2	K562	blood:
41	chr3:20079576..20083677-chr3:20098793..20102064,4	K562	blood:
42	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
43	chr3:20193485..20196421-chr3:20205590..20208525,2	K562	blood:
44	chr3:20329415..20331770-chr3:20333391..20336112,2	K562	blood:
45	chr3:20096664..20098215-chr3:20134683..20136839,2	K562	blood:
46	chr3:19986817..19988952-chr3:20217097..20219211,2	K562	blood:
47	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
48	chr3:20239141..20242093-chr3:20243237..20245367,3	K562	blood:
49	chr3:20080195..20082473-chr3:20238022..20239548,2	MCF-7	breast:
50	chr3:20147447..20149147-chr3:20152117..20154267,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
2	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
3	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
4	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
5	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
6	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
7	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595
8	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
9	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
10	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
11	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
12	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
13	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
14	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
15	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
16	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
17	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
18	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes

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	chr3:20195701-20195723
2	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
3	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
4	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
5	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
6	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
7	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
8	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
9	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
10	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
11	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
12	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
13	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
14	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144

Variant related genes	Relation type
KAT2B	TF binding region
MIR3135A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
MIR3135A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000129810	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000114166	chromatin interactions

Extended variants
information (count: 10790 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:10790 , 50 per page) page: 1 2 3 4 5 6 7 ... 216

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2929401	chr3:20096735-20096736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368507599	chr3:20096749-20096750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555291764	chr3:20096758-20096759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2929400	chr3:20096766-20096767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148471575	chr3:20096881-20096882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145240236	chr3:20096885-20096886	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34620777	chr3:20096953-20096954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2948083	chr3:20096973-20096974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs544661468	chr3:20096992-20096993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9877207	chr3:20097009-20097010	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77384829	chr3:20097045-20097046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147607816	chr3:20097078-20097079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551258831	chr3:20097112-20097113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189585848	chr3:20097114-20097115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531536745	chr3:20097159-20097160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140420206	chr3:20097184-20097185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564896326	chr3:20097206-20097207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144289878	chr3:20097247-20097248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547907621	chr3:20097261-20097262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566217982	chr3:20097273-20097274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536631123	chr3:20097331-20097332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75206196	chr3:20097343-20097344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570051622	chr3:20097351-20097352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs151150770	chr3:20097374-20097375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76131221	chr3:20097375-20097376	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559209293	chr3:20097383-20097384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576980206	chr3:20097435-20097436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140084056	chr3:20097451-20097452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553444000	chr3:20097459-20097460	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2948084	chr3:20097467-20097468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533700152	chr3:20097479-20097480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181865349	chr3:20097497-20097498	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74491806	chr3:20097499-20097500	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576004720	chr3:20097500-20097501	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149867259	chr3:20097516-20097517	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565230353	chr3:20097525-20097526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145866875	chr3:20097549-20097550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs140701103	chr3:20097563-20097564	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572391157	chr3:20097572-20097573	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145812230	chr3:20097584-20097585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138400645	chr3:20097605-20097606	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548676141	chr3:20097612-20097613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576436824	chr3:20097618-20097619	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569908406	chr3:20097694-20097695	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537453479	chr3:20097700-20097701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141311545	chr3:20097709-20097710	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567722134	chr3:20097769-20097770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570852460	chr3:20097812-20097813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79085995	chr3:20097815-20097816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536268003	chr3:20097837-20097838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	20531469	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4149 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20083000-20098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:20085200-20098200	Weak transcription	Fetal Kidney	kidney
3	chr3:20086200-20096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:20086200-20102800	Weak transcription	Fetal Intestine Small	intestine
5	chr3:20087600-20099400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:20090200-20098400	Weak transcription	Ovary	ovary
7	chr3:20090800-20099200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:20090800-20100600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:20094000-20097600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:20094200-20099400	Enhancers	Fetal Thymus	thymus
11	chr3:20095200-20098400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:20095400-20099600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:20095600-20097200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:20095600-20097200	Enhancers	Left Ventricle	heart
15	chr3:20095600-20097200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:20095600-20097600	Enhancers	Primary B cells from cord blood	blood
17	chr3:20095600-20099000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:20095600-20099400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:20095600-20099600	Enhancers	Liver	Liver
20	chr3:20095600-20099800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr3:20095600-20100000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:20095600-20100200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:20095600-20100200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:20095600-20100400	Enhancers	Fetal Heart	heart
25	chr3:20095600-20100800	Enhancers	Placenta	Placenta
26	chr3:20095800-20096800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:20095800-20096800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:20095800-20096800	Enhancers	Brain Hippocampus Middle	brain
29	chr3:20095800-20097000	Enhancers	NHDF-Ad	bronchial
30	chr3:20095800-20097000	Enhancers	NHLF	lung
31	chr3:20095800-20097200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:20095800-20097200	Enhancers	HSMM	muscle
33	chr3:20095800-20097400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:20095800-20097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:20095800-20097400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:20095800-20097600	Enhancers	Dnd41	blood
37	chr3:20095800-20098400	Enhancers	NHEK	skin
38	chr3:20095800-20098600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:20095800-20098800	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:20095800-20099200	Enhancers	Duodenum Mucosa	Duodenum
41	chr3:20095800-20099400	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:20095800-20099400	Enhancers	Brain Angular Gyrus	brain
43	chr3:20095800-20099400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr3:20095800-20099600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:20095800-20099600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:20095800-20099600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:20095800-20099600	Enhancers	Adipose Nuclei	Adipose
48	chr3:20095800-20099600	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:20095800-20099600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:20095800-20099600	Enhancers	HMEC	breast

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