Variant report

Variant	nsv583000
Chromosome Location	chr2:126443331-126468891
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	BACH1	chr2:126458688-126458954	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:126458745-126458939	K562	blood:	n/a	n/a
3	CEBPB	chr2:126464113-126464382	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:126456504-126456579	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:126462938-126463121	H1-hESC	embryonic stem cell:	n/a	chr2:126463016-126463027
6	CEBPB	chr2:126459761-126460068	HepG2	liver:	n/a	chr2:126459891-126459902
7	CEBPB	chr2:126462893-126463185	A549	lung:	n/a	chr2:126463016-126463027
8	CEBPB	chr2:126459773-126460015	A549	lung:	n/a	chr2:126459891-126459902
9	CEBPB	chr2:126459757-126460046	Hela-S3	cervix:	n/a	chr2:126459891-126459902
10	CEBPB	chr2:126457168-126457434	A549	lung:	n/a	chr2:126457350-126457363 chr2:126457351-126457362
11	CEBPB	chr2:126462546-126463195	HepG2	liver:	n/a	chr2:126462632-126462645 chr2:126463016-126463027
12	CEBPB	chr2:126457190-126457461	HepG2	liver:	n/a	chr2:126457350-126457363 chr2:126457351-126457362
13	CEBPB	chr2:126462587-126463186	IMR90	lung:	n/a	chr2:126462632-126462645 chr2:126463016-126463027
14	CTCF	chr2:126460860-126461010	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:126463740-126463890	GM12866	blood:	n/a	n/a
16	CTCF	chr2:126454040-126454190	GM06990	blood:	n/a	n/a
17	CTCF	chr2:126456540-126456690	GM12867	blood:	n/a	n/a
18	CTCF	chr2:126454081-126454105	HepG2	liver:	n/a	n/a
19	E2F4	chr2:126454291-126454606	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr2:126468033-126468392	T-47D	breast:	n/a	n/a
21	EP300	chr2:126454138-126454736	T-47D	breast:	n/a	chr2:126454657-126454671 chr2:126454451-126454461
22	EP300	chr2:126454248-126454492	Hela-S3	cervix:	n/a	chr2:126454451-126454461
23	EP300	chr2:126468638-126469296	T-47D	breast:	n/a	chr2:126468999-126469013
24	EP300	chr2:126467886-126468377	T-47D	breast:	n/a	n/a
25	EP300	chr2:126454112-126454580	T-47D	breast:	n/a	chr2:126454451-126454461
26	FOS	chr2:126459855-126459917	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr2:126454166-126454610	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:126454246-126454511	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:126459885-126459902	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:126459799-126460042	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:126454306-126454540	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:126454166-126454578	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:126458740-126458941	MCF10A-Er-Src	breast:	n/a	chr2:126458841-126458849 chr2:126458841-126458849 chr2:126458841-126458848
34	FOXA1	chr2:126452821-126453113	T-47D	breast:	n/a	n/a
35	FOXA1	chr2:126454035-126454601	T-47D	breast:	n/a	chr2:126454063-126454075 chr2:126454446-126454461
36	FOXA1	chr2:126467957-126468355	T-47D	breast:	n/a	n/a
37	FOXA1	chr2:126468022-126468410	T-47D	breast:	n/a	n/a
38	FOXA1	chr2:126453929-126454598	T-47D	breast:	n/a	chr2:126454063-126454075 chr2:126454446-126454461
39	FOXA1	chr2:126468667-126469032	T-47D	breast:	n/a	chr2:126468818-126468833
40	FOXA1	chr2:126468656-126469294	T-47D	breast:	n/a	chr2:126468818-126468833
41	FOXA2	chr2:126454166-126454495	A549	lung:	n/a	n/a
42	GATA3	chr2:126453848-126454618	T-47D	breast:	n/a	n/a
43	GATA3	chr2:126467951-126468637	T-47D	breast:	n/a	n/a
44	GATA3	chr2:126468584-126470252	T-47D	breast:	n/a	chr2:126469711-126469718
45	GATA3	chr2:126467932-126468564	MCF-7	breast:	n/a	n/a
46	GATA3	chr2:126453815-126454673	T-47D	breast:	n/a	n/a
47	GATA3	chr2:126468642-126469333	T-47D	breast:	n/a	n/a
48	GATA3	chr2:126467887-126468539	T-47D	breast:	n/a	n/a
49	HCFC1	chr2:126464649-126464821	K562	blood:	n/a	n/a
50	JUND	chr2:126454063-126454697	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
2	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
3	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-2	chr2:126457983-126458113	FPKM1_group_17139_transcript_1
2	lnc-CNTNAP5-2	chr2:126456152-126456276	NONHSAT074117
3	lnc-CNTNAP5-3	chr2:126468545-126468947	NONHSAT074121
4	lnc-BIN1-3	chr2:126464387-126464754	XLOC_002307
5	lnc-CNTNAP5-2	chr2:126456152-126456276	FPKM1_group_17139_transcript_1
6	lnc-BIN1-3	chr2:126464386-126464754	NONHSAT074119
7	lnc-CNTNAP5-3	chr2:126468546-126468947	XLOC_001657

Variant related genes	Relation type
ENSG00000235491	TF binding region
KCNC4	miRNA target sites

Extended variants
information (count: 424 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72612002	chr2:126451831-126451832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369204090	chr2:126451851-126451852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536770588	chr2:126451898-126451899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4991210	chr2:126451914-126451915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377591460	chr2:126451927-126451928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55844746	chr2:126451940-126451941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567160351	chr2:126451957-126451958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5008088	chr2:126451959-126451960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150115276	chr2:126451977-126451978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181340461	chr2:126452041-126452042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545693391	chr2:126452042-126452043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375512005	chr2:126452064-126452065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377727240	chr2:126452071-126452072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559215029	chr2:126452089-126452090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576051715	chr2:126452119-126452120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541579295	chr2:126452156-126452157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369860149	chr2:126452193-126452194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575757176	chr2:126452199-126452200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138473693	chr2:126452220-126452221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561383727	chr2:126452223-126452224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530131633	chr2:126452264-126452265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561790977	chr2:126452277-126452278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540666432	chr2:126452319-126452320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185515136	chr2:126452358-126452359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528400051	chr2:126452374-126452375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372778925	chr2:126452399-126452400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371414938	chr2:126452415-126452416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112515241	chr2:126452473-126452474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373345279	chr2:126452474-126452475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188371076	chr2:126452482-126452483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571126532	chr2:126452571-126452572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376176194	chr2:126452617-126452618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375479587	chr2:126452696-126452697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530691024	chr2:126452697-126452698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550408187	chr2:126452698-126452699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74481090	chr2:126452735-126452736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535949983	chr2:126452750-126452751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553032208	chr2:126452876-126452877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566446429	chr2:126452893-126452894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539354973	chr2:126452933-126452934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559251662	chr2:126452936-126452937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575498201	chr2:126453050-126453051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181610199	chr2:126453086-126453087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554853218	chr2:126453105-126453106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186604469	chr2:126453143-126453144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192441820	chr2:126453177-126453178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183786303	chr2:126453178-126453179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373240854	chr2:126453181-126453182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117711908	chr2:126453806-126453807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576831139	chr2:126453855-126453856	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126451800-126453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126453800-126454200	Enhancers	Brain Substantia Nigra	brain
3	chr2:126453800-126454600	Enhancers	Brain Hippocampus Middle	brain
4	chr2:126454000-126455200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:126454000-126455200	Enhancers	Hela-S3	cervix
6	chr2:126454200-126455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:126462200-126463000	Enhancers	Brain Germinal Matrix	brain
8	chr2:126463000-126466200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:126466200-126466400	Enhancers	Brain Germinal Matrix	brain
10	chr2:126466600-126467200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:126467200-126470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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