Variant report

Variant	nsv880246
Chromosome Location	chr4:149287807-149311728
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	ARID3A	chr4:149297313-149297674	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:149294252-149294625	HepG2	liver:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
3	CEBPB	chr4:149297316-149297714	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr4:149294210-149294669	ECC-1	luminal epithelium:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
5	CEBPB	chr4:149294227-149294626	ECC-1	luminal epithelium:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
6	CEBPB	chr4:149297351-149297722	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:149294292-149294594	A549	lung:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
8	CEBPB	chr4:149294271-149294598	H1-hESC	embryonic stem cell:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
9	CEBPB	chr4:149297386-149297644	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:149289515-149289754	HepG2	liver:	n/a	chr4:149289616-149289627
11	CEBPB	chr4:149294276-149294604	IMR90	lung:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
12	CEBPB	chr4:149294276-149294596	Hela-S3	cervix:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
13	E2F4	chr4:149304028-149304044	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr4:149297164-149297733	HepG2	liver:	n/a	chr4:149297299-149297313 chr4:149297300-149297314 chr4:149297298-149297312 chr4:149297409-149297423
15	EP300	chr4:149297219-149297813	ECC-1	luminal epithelium:	n/a	chr4:149297299-149297313 chr4:149297300-149297314 chr4:149297298-149297312 chr4:149297409-149297423
16	EP300	chr4:149297218-149297765	HepG2	liver:	n/a	chr4:149297299-149297313 chr4:149297300-149297314 chr4:149297298-149297312 chr4:149297409-149297423
17	FOS	chr4:149297263-149297634	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr4:149297363-149297604	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr4:149297164-149297687	HepG2	liver:	n/a	chr4:149297394-149297406
20	FOXA1	chr4:149297256-149297632	HepG2	liver:	n/a	chr4:149297394-149297406
21	FOXA1	chr4:149297296-149297605	T-47D	breast:	n/a	chr4:149297394-149297406
22	FOXA1	chr4:149297267-149297689	T-47D	breast:	n/a	chr4:149297394-149297406
23	FOXA1	chr4:149297107-149297737	HepG2	liver:	n/a	chr4:149297394-149297406 chr4:149297142-149297154
24	FOXA1	chr4:149297211-149297760	HepG2	liver:	n/a	chr4:149297394-149297406
25	FOXA2	chr4:149296879-149297851	HepG2	liver:	n/a	chr4:149297394-149297406 chr4:149297142-149297154
26	FOXA2	chr4:149297258-149297693	HepG2	liver:	n/a	chr4:149297394-149297406
27	FOXM1	chr4:149297157-149297814	ECC-1	luminal epithelium:	n/a	n/a
28	FOXP2	chr4:149297311-149297645	SK-N-MC	brain:	n/a	chr4:149297394-149297406
29	GATA2	chr4:149297241-149297587	HUVEC	blood vessel:	n/a	n/a
30	GATA3	chr4:149295118-149295535	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr4:149297318-149297641	T-47D	breast:	n/a	n/a
32	HDAC2	chr4:149297229-149297677	HepG2	liver:	n/a	chr4:149297297-149297311 chr4:149297298-149297312 chr4:149297299-149297313 chr4:149297394-149297403 chr4:149297400-149297414 chr4:149297584-149297598 chr4:149297300-149297314 chr4:149297583-149297597
33	MAFF	chr4:149287703-149287903	HepG2	liver:	n/a	chr4:149287825-149287843
34	MAFK	chr4:149296248-149296342	HepG2	liver:	n/a	n/a
35	MAFK	chr4:149287752-149287856	HepG2	liver:	n/a	n/a
36	MAFK	chr4:149287661-149287965	HepG2	liver:	n/a	n/a
37	MAFK	chr4:149298144-149298243	HepG2	liver:	n/a	n/a
38	MBD4	chr4:149297236-149297775	HepG2	liver:	n/a	n/a
39	MXI1	chr4:149301977-149302111	K562	blood:	n/a	n/a
40	MYBL2	chr4:149297183-149297679	HepG2	liver:	n/a	n/a
41	MYBL2	chr4:149297082-149297739	HepG2	liver:	n/a	n/a
42	MYC	chr4:149291242-149291380	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr4:149291221-149291234	H1-hESC	embryonic stem cell:	n/a	n/a
44	NFIC	chr4:149297063-149297787	HepG2	liver:	n/a	chr4:149297476-149297493 chr4:149297476-149297492
45	NFIC	chr4:149297047-149297882	ECC-1	luminal epithelium:	n/a	chr4:149297476-149297493 chr4:149297476-149297492
46	NFIC	chr4:149297248-149297784	SK-N-SH	brain:	n/a	chr4:149297476-149297493 chr4:149297476-149297492
47	NFIC	chr4:149297119-149297851	ECC-1	luminal epithelium:	n/a	chr4:149297476-149297493 chr4:149297476-149297492
48	NFIC	chr4:149297166-149297746	HepG2	liver:	n/a	chr4:149297476-149297493 chr4:149297476-149297492
49	POLR2A	chr4:149297258-149297645	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr4:149297573-149297620	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:149300581..149303429-chr4:149304550..149306545,2	MCF-7	breast:
2	chr4:149300581..149303429-chr4:149304550..149306545,2	MCF-7	breast:
3	chr4:149310101..149312108-chr4:149313600..149316381,2	MCF-7	breast:

Variant related genes	Relation type
NR3C2	TF binding region

Extended variants
information (count: 952 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10434100	chr4:149287807-149287808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562867541	chr4:149287834-149287835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115996664	chr4:149287883-149287884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148563851	chr4:149287893-149287894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374925276	chr4:149287922-149287923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34440852	chr4:149287928-149287929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565134272	chr4:149287936-149287937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181551237	chr4:149287982-149287983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527496873	chr4:149288027-149288028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186400573	chr4:149288031-149288032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386680648	chr4:149288051-149288052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72729968	chr4:149288052-149288053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549730033	chr4:149288065-149288066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569685707	chr4:149288090-149288091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538718443	chr4:149288129-149288130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529177887	chr4:149288143-149288144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558838892	chr4:149288176-149288177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372791806	chr4:149288179-149288180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190797415	chr4:149288210-149288211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114278650	chr4:149288267-149288268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180917267	chr4:149288283-149288284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116434517	chr4:149288387-149288388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185934344	chr4:149288389-149288390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75334268	chr4:149288416-149288417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576504859	chr4:149288432-149288433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570511699	chr4:149288442-149288443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531347483	chr4:149288458-149288459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191220388	chr4:149288473-149288474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61762833	chr4:149288519-149288520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142902249	chr4:149288522-149288523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557800103	chr4:149288532-149288533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187962933	chr4:149288533-149288534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151063240	chr4:149288567-149288568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1355612	chr4:149288576-149288577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141295255	chr4:149288617-149288618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76653240	chr4:149288656-149288657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553525467	chr4:149288664-149288665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563295983	chr4:149288686-149288687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531967874	chr4:149288699-149288700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61762834	chr4:149288730-149288731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146781685	chr4:149288738-149288739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534839351	chr4:149288749-149288750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61762835	chr4:149288806-149288807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574898379	chr4:149288829-149288830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140482280	chr4:149288844-149288845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538432146	chr4:149288848-149288849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56387992	chr4:149288860-149288861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556929163	chr4:149288888-149288889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61762837	chr4:149288945-149288946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61762838	chr4:149288957-149288958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149268200-149288000	Weak transcription	Small Intestine	intestine
2	chr4:149277000-149291000	Weak transcription	Left Ventricle	heart
3	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
5	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:149281400-149290800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:149282200-149289000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:149282200-149289000	Weak transcription	Gastric	stomach
9	chr4:149282800-149289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:149282800-149296800	Weak transcription	Psoas Muscle	Psoas
11	chr4:149283000-149289000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:149283200-149293400	Weak transcription	Right Atrium	heart
14	chr4:149284200-149288000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:149287800-149288000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:149287800-149288200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:149287800-149288400	Enhancers	Fetal Heart	heart
18	chr4:149287800-149288400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:149287800-149289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:149288000-149288400	Enhancers	Colon Smooth Muscle	Colon
21	chr4:149288000-149288800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:149288200-149288400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:149288400-149289000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:149288400-149291000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:149288400-149297000	Weak transcription	Fetal Heart	heart
26	chr4:149288800-149289400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:149289000-149289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:149289000-149289400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr4:149289000-149289400	Enhancers	Gastric	stomach
30	chr4:149289000-149289600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:149289200-149289400	Enhancers	Aorta	Aorta
32	chr4:149289200-149289400	Enhancers	Spleen	Spleen
33	chr4:149289200-149289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:149289400-149290000	Weak transcription	Aorta	Aorta
35	chr4:149289400-149291200	Weak transcription	Spleen	Spleen
36	chr4:149289400-149293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:149289400-149294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:149289400-149294200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:149289600-149291000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:149289600-149294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:149289600-149297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:149290000-149290200	Enhancers	Aorta	Aorta
43	chr4:149290200-149297200	Weak transcription	Aorta	Aorta
44	chr4:149290400-149296800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:149290800-149291200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:149290800-149291600	Enhancers	Fetal Muscle Leg	muscle
47	chr4:149291000-149291400	Enhancers	Lung	lung
48	chr4:149291000-149291400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:149291000-149291400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:149291000-149291600	Enhancers	Left Ventricle	heart

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