Variant report

Variant	nsv967744
Chromosome Location	chr4:49187444-49205960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:915)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:49199682-49200057	GM12878	blood:	n/a	n/a
2	BATF	chr4:49204293-49204573	GM12878	blood:	n/a	n/a
3	BATF	chr4:49196524-49196831	GM12878	blood:	n/a	n/a
4	BATF	chr4:49203975-49204281	GM12878	blood:	n/a	n/a
5	BATF	chr4:49200082-49200414	GM12878	blood:	n/a	n/a
6	BATF	chr4:49187844-49188518	GM12878	blood:	n/a	n/a
7	BATF	chr4:49198789-49199210	GM12878	blood:	n/a	n/a
8	BATF	chr4:49195151-49195336	GM12878	blood:	n/a	n/a
9	BATF	chr4:49200088-49200392	GM12878	blood:	n/a	n/a
10	BATF	chr4:49204025-49204544	GM12878	blood:	n/a	n/a
11	BATF	chr4:49203258-49203635	GM12878	blood:	n/a	n/a
12	BATF	chr4:49193638-49193955	GM12878	blood:	n/a	n/a
13	BATF	chr4:49202607-49202811	GM12878	blood:	n/a	n/a
14	BATF	chr4:49201857-49202145	GM12878	blood:	n/a	n/a
15	BATF	chr4:49191276-49191577	GM12878	blood:	n/a	n/a
16	BATF	chr4:49200625-49200836	GM12878	blood:	n/a	n/a
17	BATF	chr4:49197708-49198269	GM12878	blood:	n/a	n/a
18	BATF	chr4:49198280-49198474	GM12878	blood:	n/a	n/a
19	BATF	chr4:49187322-49187755	GM12878	blood:	n/a	n/a
20	BATF	chr4:49196142-49196389	GM12878	blood:	n/a	n/a
21	BATF	chr4:49197009-49197431	GM12878	blood:	n/a	n/a
22	BATF	chr4:49200948-49201240	GM12878	blood:	n/a	n/a
23	BATF	chr4:49200976-49201419	GM12878	blood:	n/a	n/a
24	BATF	chr4:49194228-49194538	GM12878	blood:	n/a	n/a
25	BATF	chr4:49196148-49196381	GM12878	blood:	n/a	n/a
26	BATF	chr4:49193971-49194254	GM12878	blood:	n/a	n/a
27	BATF	chr4:49196588-49196834	GM12878	blood:	n/a	n/a
28	BATF	chr4:49195065-49195673	GM12878	blood:	n/a	n/a
29	BATF	chr4:49198779-49199325	GM12878	blood:	n/a	n/a
30	BATF	chr4:49203192-49203619	GM12878	blood:	n/a	n/a
31	BATF	chr4:49187369-49187639	GM12878	blood:	n/a	n/a
32	BCL11A	chr4:49193751-49194195	GM12878	blood:	n/a	n/a
33	BCL11A	chr4:49196989-49197535	GM12878	blood:	n/a	n/a
34	BCL11A	chr4:49196559-49196810	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:49204044-49204598	GM12878	blood:	n/a	n/a
36	BCL11A	chr4:49187561-49187763	GM12878	blood:	n/a	n/a
37	BCL11A	chr4:49203237-49203661	GM12878	blood:	n/a	n/a
38	BCL11A	chr4:49194380-49194663	GM12878	blood:	n/a	n/a
39	BCL11A	chr4:49193504-49194250	GM12878	blood:	n/a	n/a
40	BCL11A	chr4:49200074-49200340	GM12878	blood:	n/a	n/a
41	BCL11A	chr4:49201529-49201744	GM12878	blood:	n/a	n/a
42	BCL11A	chr4:49197695-49198256	GM12878	blood:	n/a	n/a
43	BCL11A	chr4:49203173-49203553	GM12878	blood:	n/a	n/a
44	BCL11A	chr4:49186743-49187568	GM12878	blood:	n/a	n/a
45	BCL11A	chr4:49194436-49194699	GM12878	blood:	n/a	n/a
46	BCL11A	chr4:49200973-49201200	GM12878	blood:	n/a	n/a
47	BCL11A	chr4:49191341-49191556	GM12878	blood:	n/a	n/a
48	BCL11A	chr4:49188838-49189099	GM12878	blood:	n/a	n/a
49	BCL11A	chr4:49203742-49203975	GM12878	blood:	n/a	n/a
50	BCL11A	chr4:49190671-49190900	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:49204696-49204746	RPTEC	kidney:	n/a
2	chr4:49204696-49204746	CMK	blood:	n/a
3	chr4:49204696-49204746	SK-N-SH	brain:	n/a
4	chr4:49204696-49204746	ProgFib	skin:	n/a
5	chr4:49204696-49204746	GM19239	blood:	n/a
6	chr4:49204696-49204746	HCT-116	colon:	n/a
7	chr4:49204696-49204746	AG10803	skin:	n/a
8	chr4:49204696-49204746	AG04450	lung:	fetal
9	chr4:49204696-49204746	PrEC	prostate:	n/a
10	chr4:49204696-49204746	K562	blood:	n/a
11	chr4:49204696-49204746	IMR90	lung:	fetal
12	chr4:49204696-49204746	PFSK-1	brain:	n/a
13	chr4:49204696-49204746	BJ	skin:	n/a
14	chr4:49204696-49204746	A549	lung:	n/a
15	chr4:49204696-49204746	T-47D	breast:	n/a
16	chr4:49204696-49204746	HNPCEpiC	eye:	n/a
17	chr4:49204696-49204746	NB4	blood:	n/a
18	chr4:49204696-49204746	HL-60	blood:	n/a
19	chr4:49204696-49204746	Hepatocyte	liver:	n/a
20	chr4:49204696-49204746	HRE	kidney:	n/a
21	chr4:49204696-49204746	Caco-2	colon:	n/a
22	chr4:49204696-49204746	Jurkat	blood:	n/a
23	chr4:49204696-49204746	AG04449	skin:	fetal
24	chr4:49204696-49204746	SK-N-MC	brain:	n/a
25	chr4:49204696-49204746	HEEpiC	esophagus:	n/a
26	chr4:49204696-49204746	HUVEC	blood vessel:	n/a
27	chr4:49204696-49204746	HIPEpiC	eye:	n/a
28	chr4:49204696-49204746	SK-N-SH_RA	brain:	n/a
29	chr4:49204696-49204746	HRPEpiC	eye:	n/a
30	chr4:49204696-49204746	MCF-7	breast:	n/a
31	chr4:49204696-49204746	AG09319	gingival:	n/a
32	chr4:49204696-49204746	AG09309	skin:	n/a
33	chr4:49204696-49204746	SKMC	muscle:	n/a
34	chr4:49204696-49204746	HCM	heart:	n/a
35	chr4:49204696-49204746	HepG2	liver:	n/a
36	chr4:49204696-49204746	MCF10A-Er-Src	breast:	n/a
37	chr4:49204696-49204746	NT2-D1	testis:	n/a
38	chr4:49204696-49204746	HCF	heart:	n/a
39	chr4:49204696-49204746	HPAEpiC	pulmonary alveolar:	n/a
40	chr4:49204696-49204746	AoSMC	blood vessel:	n/a
41	chr4:49204696-49204746	HAEpiC	amniotic membrane:	n/a
42	chr4:49204696-49204746	NH-A	brain:	n/a
43	chr4:49204696-49204746	GM12892	blood:	n/a
44	chr4:49204696-49204746	NHDF-neo	bronchial:	n/a
45	chr4:49204696-49204746	LNCaP	prostate:	n/a
46	chr4:49204696-49204746	ECC-1	luminal epithelium:	n/a
47	chr4:49204696-49204746	U87	brain:	n/a
48	chr4:49204696-49204746	ovcar-3	ovarian:	n/a
49	chr4:49204696-49204746	SAEC	small airway:	n/a
50	chr4:49204696-49204746	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000249828	TF binding region
ENSG00000222437	TF binding region
ENSG00000221415	TF binding region
ENSG00000221747	TF binding region
ENSG00000249828	CpG island
ENSG00000222437	CpG island
ENSG00000221415	CpG island
ENSG00000221747	CpG island

Extended variants
information (count: 540 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7436819	chr4:49194226-49194227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7437729	chr4:49194239-49194240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57472734	chr4:49194266-49194267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372878824	chr4:49194274-49194275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557564547	chr4:49194275-49194276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145024102	chr4:49194283-49194284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200576197	chr4:49194295-49194296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111553033	chr4:49194320-49194321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368624921	chr4:49194329-49194330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371221579	chr4:49194351-49194352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs202084232	chr4:49194376-49194377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112595877	chr4:49194399-49194400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs28809276	chr4:49194453-49194454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79306769	chr4:49194465-49194466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs80027085	chr4:49194466-49194467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4619865	chr4:49194476-49194477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs28840083	chr4:49194479-49194480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374536988	chr4:49194481-49194482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs367828349	chr4:49194485-49194486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs60626400	chr4:49194495-49194496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62302487	chr4:49194499-49194500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111947693	chr4:49194501-49194502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28779192	chr4:49194504-49194505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs372011877	chr4:49194514-49194515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187461515	chr4:49194516-49194517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371635269	chr4:49194524-49194525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376381749	chr4:49194526-49194527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112680366	chr4:49194530-49194531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543147584	chr4:49194531-49194532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111297417	chr4:49194534-49194535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201620363	chr4:49194592-49194593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4431204	chr4:49194610-49194611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191905052	chr4:49194611-49194612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs143534117	chr4:49194640-49194641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4639043	chr4:49194644-49194645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs60950537	chr4:49194647-49194648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs139390090	chr4:49194648-49194649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555061111	chr4:49194689-49194690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573365854	chr4:49194700-49194701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540678049	chr4:49194701-49194702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565114900	chr4:49194730-49194731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs79997336	chr4:49194731-49194732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs4267712	chr4:49194732-49194733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369233277	chr4:49194766-49194767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs28716126	chr4:49194778-49194779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs4639044	chr4:49194781-49194782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577103655	chr4:49194787-49194788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs544147062	chr4:49194794-49194795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375709081	chr4:49194797-49194798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529789848	chr4:49194804-49194805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49199000-49200400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:49199800-49200400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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