Variant report

Variant	esv3357282
Chromosome Location	chr4:8180352-8184850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr4:8182619-8183005	GM12878	blood:	n/a	n/a
2	BCL3	chr4:8182148-8182928	GM12878	blood:	n/a	n/a
3	BRCA1	chr4:8181830-8182164	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr4:8183533-8183789	Hela-S3	cervix:	n/a	n/a
5	CCNT2	chr4:8183632-8183825	K562	blood:	n/a	chr4:8183711-8183720 chr4:8183655-8183675
6	CEBPB	chr4:8183577-8183817	Hela-S3	cervix:	n/a	chr4:8183741-8183749
7	CHD2	chr4:8183461-8184065	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr4:8184846-8185464	A549	lung:	n/a	n/a
9	CTCF	chr4:8182791-8182851	GM19239	blood:	n/a	n/a
10	CTCF	chr4:8181653-8181805	HepG2	liver:	n/a	n/a
11	CTCF	chr4:8181660-8181810	HepG2	liver:	n/a	n/a
12	CTCF	chr4:8181740-8181890	HCPEpiC	choroid plexus:	n/a	n/a
13	FOS	chr4:8182026-8182538	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
14	FOS	chr4:8182038-8182627	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
15	FOS	chr4:8182089-8182392	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
16	GATA3	chr4:8184728-8185896	MCF-7	breast:	n/a	chr4:8185234-8185242
17	GATA3	chr4:8184799-8185669	MCF-7	breast:	n/a	chr4:8185234-8185242
18	GATA3	chr4:8183588-8183886	MCF-7	breast:	n/a	chr4:8183661-8183677 chr4:8183655-8183672 chr4:8183664-8183673 chr4:8183663-8183675 chr4:8183664-8183674
19	GATA3	chr4:8183460-8183961	MCF-7	breast:	n/a	chr4:8183661-8183677 chr4:8183655-8183672 chr4:8183664-8183673 chr4:8183663-8183675 chr4:8183664-8183674
20	GTF2F1	chr4:8183644-8183844	Hela-S3	cervix:	n/a	n/a
21	HA-E2F1	chr4:8184809-8185506	MCF-7	breast:	n/a	n/a
22	HDAC2	chr4:8184692-8185621	MCF-7	breast:	n/a	n/a
23	HMGN3	chr4:8181528-8181599	K562	blood:	n/a	n/a
24	MAFK	chr4:8184044-8184244	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr4:8183372-8183825	Hela-S3	cervix:	n/a	n/a
26	MAFK	chr4:8182059-8182349	Hela-S3	cervix:	n/a	n/a
27	MAX	chr4:8183749-8183862	K562	blood:	n/a	n/a
28	MAX	chr4:8182424-8182899	NB4	blood:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
29	MAX	chr4:8182107-8182212	Hela-S3	cervix:	n/a	n/a
30	MAX	chr4:8183556-8184255	Hela-S3	cervix:	n/a	n/a
31	MAX	chr4:8182406-8182639	H1-hESC	embryonic stem cell:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
32	MAX	chr4:8184846-8185380	MCF-7	breast:	n/a	n/a
33	MAZ	chr4:8183503-8183758	K562	blood:	n/a	n/a
34	MAZ	chr4:8183546-8184159	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr4:8183525-8183897	Hela-S3	cervix:	n/a	n/a
36	MYC	chr4:8182152-8182543	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr4:8182596-8182635	NB4	blood:	n/a	chr4:8182603-8182613 chr4:8182615-8182625
38	NFATC1	chr4:8182540-8182957	GM12878	blood:	n/a	n/a
39	NFATC1	chr4:8182143-8182934	GM12878	blood:	n/a	n/a
40	NFIC	chr4:8181621-8182123	ECC-1	luminal epithelium:	n/a	n/a
41	NFYA	chr4:8183502-8184011	Hela-S3	cervix:	n/a	chr4:8183740-8183750
42	NR2F2	chr4:8184706-8185701	MCF-7	breast:	n/a	n/a
43	NR2F2	chr4:8184716-8185732	MCF-7	breast:	n/a	n/a
44	NR2F2	chr4:8183474-8183894	MCF-7	breast:	n/a	n/a
45	NR2F2	chr4:8183508-8184059	MCF-7	breast:	n/a	n/a
46	NR3C1	chr4:8184798-8185725	A549	lung:	n/a	n/a
47	NR3C1	chr4:8184694-8185419	A549	lung:	n/a	n/a
48	NR3C1	chr4:8184771-8185567	A549	lung:	n/a	n/a
49	PBX3	chr4:8182767-8182908	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:8184846-8186486	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8179921..8181904-chr4:8189631..8192248,3	MCF-7	breast:
2	chr4:8178129..8181116-chr4:8187357..8190314,2	K562	blood:
3	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
4	chr17:58130754..58132699-chr4:8184311..8186643,2	MCF-7	breast:
5	chr4:8181018..8183687-chr4:8185277..8188138,2	MCF-7	breast:
6	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:
7	chr4:8179293..8181973-chr4:8183474..8185384,4	MCF-7	breast:
8	chr4:8158932..8160891-chr4:8178387..8181198,2	MCF-7	breast:
9	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000163995	chromatin interactions
ENSG00000125089	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564029052	chr4:8180387-8180388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367562828	chr4:8180406-8180407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189582625	chr4:8180411-8180412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561746891	chr4:8180415-8180416	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192398517	chr4:8180418-8180419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184770218	chr4:8180419-8180420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371355862	chr4:8180460-8180461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140937292	chr4:8180476-8180477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34641136	chr4:8180481-8180482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150263051	chr4:8180523-8180524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188798302	chr4:8180524-8180525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567121490	chr4:8180545-8180546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534516356	chr4:8180552-8180553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555439356	chr4:8180595-8180596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116044824	chr4:8180622-8180623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138950973	chr4:8180631-8180632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556616282	chr4:8180652-8180653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11946123	chr4:8180680-8180681	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181566150	chr4:8180710-8180711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557534939	chr4:8180747-8180748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572775124	chr4:8180755-8180756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187167582	chr4:8180806-8180807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561868674	chr4:8180823-8180824	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75983233	chr4:8180832-8180833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375301532	chr4:8180834-8180835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148976567	chr4:8180866-8180867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562562956	chr4:8180868-8180869	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376577840	chr4:8180886-8180887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189544377	chr4:8180901-8180902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551974406	chr4:8180931-8180932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181533943	chr4:8180943-8180944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527911386	chr4:8180964-8180965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549627961	chr4:8180983-8180984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369647227	chr4:8180987-8180988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73800411	chr4:8181002-8181003	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77202461	chr4:8181018-8181019	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556146339	chr4:8181048-8181049	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571359731	chr4:8181053-8181054	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11933526	chr4:8181095-8181096	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143777862	chr4:8181111-8181112	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs185868405	chr4:8181127-8181128	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540085404	chr4:8181164-8181165	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189938056	chr4:8181192-8181193	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573894452	chr4:8181209-8181210	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574636967	chr4:8181330-8181331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116341467	chr4:8181395-8181396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73800413	chr4:8181433-8181434	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61366997	chr4:8181440-8181441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560315014	chr4:8181454-8181455	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527883304	chr4:8181489-8181490	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8172400-8181600	Weak transcription	Esophagus	oesophagus
3	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
4	chr4:8177400-8181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:8178800-8182200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:8179000-8181600	Weak transcription	Stomach Mucosa	stomach
8	chr4:8179000-8181800	Weak transcription	Right Ventricle	heart
9	chr4:8179000-8182400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:8179000-8182800	Weak transcription	Pancreas	Pancrea
11	chr4:8179200-8180800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:8179200-8182200	Weak transcription	Fetal Heart	heart
13	chr4:8179200-8182800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:8179200-8183200	Weak transcription	Left Ventricle	heart
15	chr4:8179200-8183400	Weak transcription	Thymus	Thymus
16	chr4:8179400-8181600	Weak transcription	Hela-S3	cervix
17	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:8179800-8181600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:8179800-8181600	Weak transcription	Spleen	Spleen
20	chr4:8179800-8182400	Weak transcription	Fetal Kidney	kidney
21	chr4:8179800-8183000	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:8180000-8182600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:8180800-8181000	Enhancers	Brain Anterior Caudate	brain
24	chr4:8180800-8181200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:8181000-8181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:8181000-8182400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:8181200-8182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:8181400-8182000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:8181600-8181800	Enhancers	Esophagus	oesophagus
30	chr4:8181600-8182000	Active TSS	Spleen	Spleen
31	chr4:8181600-8182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:8181600-8183400	Enhancers	Hela-S3	cervix
33	chr4:8181600-8186000	Enhancers	Stomach Mucosa	stomach
34	chr4:8181800-8182000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr4:8181800-8182000	Bivalent Enhancer	Fetal Stomach	stomach
36	chr4:8181800-8182200	Weak transcription	Esophagus	oesophagus
37	chr4:8181800-8184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:8181800-8186400	Enhancers	Right Ventricle	heart
39	chr4:8182000-8182400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:8182000-8183400	Weak transcription	Spleen	Spleen
41	chr4:8182000-8183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:8182200-8182400	Enhancers	A549	lung
43	chr4:8182200-8182800	Enhancers	HMEC	breast
44	chr4:8182200-8183000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:8182200-8184000	Enhancers	Esophagus	oesophagus
46	chr4:8182200-8185400	Enhancers	Fetal Heart	heart
47	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:8182400-8182600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr4:8182400-8182800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:8182400-8182800	Enhancers	NHEK	skin

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