Variant report

Variant	nsv879628
Chromosome Location	chr4:96739251-96778499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:671)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:96756891-96757056	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:96756771-96757273	HCT-116	colon:	n/a	n/a
3	CTCF	chr4:96757020-96757170	GM12868	blood:	n/a	n/a
4	CTCF	chr4:96756940-96757090	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr4:96756980-96757130	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr4:96756960-96757110	HL-60	blood:	n/a	n/a
7	CTCF	chr4:96756940-96757090	HPF	lung:	n/a	n/a
8	CTCF	chr4:96756960-96757110	GM12873	blood:	n/a	n/a
9	CTCF	chr4:96756906-96757133	MCF-7	breast:	n/a	n/a
10	CTCF	chr4:96756920-96757070	Caco-2	colon:	n/a	n/a
11	CTCF	chr4:96756900-96757050	HCM	heart:	n/a	n/a
12	CTCF	chr4:96756980-96757130	HCFaa	heart:	n/a	n/a
13	CTCF	chr4:96756940-96757090	A549	lung:	n/a	n/a
14	CTCF	chr4:96756976-96757084	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:96756784-96757181	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:96756900-96757050	GM12864	blood:	n/a	n/a
17	CTCF	chr4:96757040-96757190	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr4:96756960-96757110	GM12865	blood:	n/a	n/a
19	CTCF	chr4:96756920-96757070	HEK293	kidney:	n/a	n/a
20	CTCF	chr4:96756900-96757050	GM12875	blood:	n/a	n/a
21	CTCF	chr4:96756940-96757090	HEK293	kidney:	n/a	n/a
22	CTCF	chr4:96756940-96757090	BE2_C	brain:	n/a	n/a
23	CTCF	chr4:96756940-96757090	Caco-2	colon:	n/a	n/a
24	CTCF	chr4:96761211-96761268	Fibrobl	skin:	n/a	n/a
25	CTCF	chr4:96756920-96757070	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr4:96756986-96757050	GM13976	blood:	n/a	n/a
27	CTCF	chr4:96756940-96757090	GM12869	blood:	n/a	n/a
28	CTCF	chr4:96756960-96757110	GM12866	blood:	n/a	n/a
29	CTCF	chr4:96756900-96757050	GM12867	blood:	n/a	n/a
30	CTCF	chr4:96757020-96757170	BJ	skin:	n/a	n/a
31	CTCF	chr4:96756920-96757070	GM12874	blood:	n/a	n/a
32	CTCF	chr4:96756940-96757090	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr4:96756960-96757110	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr4:96756940-96757090	NHEK	skin:	n/a	n/a
35	CTCF	chr4:96756875-96757100	K562	blood:	n/a	n/a
36	CTCF	chr4:96756940-96757090	GM12871	blood:	n/a	n/a
37	CTCF	chr4:96757000-96757055	GM10266	blood:	n/a	n/a
38	CTCF	chr4:96756900-96757050	HMEC	breast:	n/a	n/a
39	CTCF	chr4:96756980-96757130	GM12872	blood:	n/a	n/a
40	CTCF	chr4:96756920-96757070	HVMF	connective:	n/a	n/a
41	CTCF	chr4:96756960-96757110	GM12870	blood:	n/a	n/a
42	CTCF	chr4:96756900-96757050	SAEC	small airway:	n/a	n/a
43	CTCF	chr4:96756995-96757058	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:96756960-96757110	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr4:96756938-96757103	K562	blood:	n/a	n/a
46	CTCF	chr4:96756963-96757084	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr4:96756980-96757130	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr4:96756980-96757130	GM12878	blood:	n/a	n/a
49	CTCF	chr4:96756980-96757130	GM12865	blood:	n/a	n/a
50	CTCF	chr4:96756900-96757050	HPAF	blood vessel:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:96761796-96761846	LNCaP	prostate:	n/a
2	chr4:96760945-96760995	T-47D	breast:	n/a
3	chr4:96761796-96761846	GM06990	blood:	n/a
4	chr4:96761796-96761846	ProgFib	skin:	n/a
5	chr4:96760014-96760064	ECC-1	luminal epithelium:	n/a
6	chr4:96761377-96761427	Hepatocyte	liver:	n/a
7	chr4:96761598-96761648	HUVEC	blood vessel:	n/a
8	chr4:96761264-96761314	HRE	kidney:	n/a
9	chr4:96761796-96761846	H1-hESC	embryonic stem cell:	embryo
10	chr4:96761026-96761076	RPTEC	kidney:	n/a
11	chr4:96760014-96760064	NHBE	bronchial:	n/a
12	chr4:96761229-96761279	HUVEC	blood vessel:	n/a
13	chr4:96760014-96760064	GM12892	blood:	n/a
14	chr4:96761264-96761314	HRCEpiC	kidney:	n/a
15	chr4:96761231-96761281	AG10803	skin:	n/a
16	chr4:96761135-96761185	NHDF-neo	bronchial:	n/a
17	chr4:96761377-96761427	HepG2	liver:	n/a
18	chr4:96761135-96761185	HCPEpiC	choroid plexus:	n/a
19	chr4:96761264-96761314	Hepatocyte	liver:	n/a
20	chr4:96761559-96761609	ECC-1	luminal epithelium:	n/a
21	chr4:96761796-96761846	Caco-2	colon:	n/a
22	chr4:96760014-96760064	HMEC	breast:	n/a
23	chr4:96761796-96761846	HRE	kidney:	n/a
24	chr4:96761264-96761314	MCF-7	breast:	n/a
25	chr4:96761598-96761648	Jurkat	blood:	n/a
26	chr4:96760014-96760064	NB4	blood:	n/a
27	chr4:96761026-96761076	Jurkat	blood:	n/a
28	chr4:96760945-96760995	LNCaP	prostate:	n/a
29	chr4:96760945-96760995	CMK	blood:	n/a
30	chr4:96761598-96761648	U87	brain:	n/a
31	chr4:96761264-96761314	RPTEC	kidney:	n/a
32	chr4:96761135-96761185	HMEC	breast:	n/a
33	chr4:96761559-96761609	Jurkat	blood:	n/a
34	chr4:96760945-96760995	SKMC	muscle:	n/a
35	chr4:96761264-96761314	GM12892	blood:	n/a
36	chr4:96761796-96761846	HNPCEpiC	eye:	n/a
37	chr4:96761598-96761648	AoSMC	blood vessel:	n/a
38	chr4:96761229-96761279	HAEpiC	amniotic membrane:	n/a
39	chr4:96760014-96760064	NT2-D1	testis:	n/a
40	chr4:96761559-96761609	MCF10A-Er-Src	breast:	n/a
41	chr4:96761231-96761281	MCF10A-Er-Src	breast:	n/a
42	chr4:96761377-96761427	RPTEC	kidney:	n/a
43	chr4:96761559-96761609	NHBE	bronchial:	n/a
44	chr4:96760945-96760995	NT2-D1	testis:	n/a
45	chr4:96761231-96761281	AG09319	gingival:	n/a
46	chr4:96760945-96760995	HIPEpiC	eye:	n/a
47	chr4:96761796-96761846	HAEpiC	amniotic membrane:	n/a
48	chr4:96760014-96760064	HepG2	liver:	n/a
49	chr4:96761026-96761076	A549	lung:	n/a
50	chr4:96761135-96761185	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:96756581..96757503-chr4:96956588..96957342,2	MCF-7	breast:
2	chr4:96749923..96752182-chr4:96773061..96775566,2	K562	blood:
3	chr4:96749923..96752182-chr4:96773061..96775566,2	K562	blood:

No data

Variant related genes	Relation type
PDHA2	TF binding region
PDHA2	CpG island

Extended variants
information (count: 811 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571360837	chr4:96742472-96742473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533875952	chr4:96742527-96742528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113769299	chr4:96742577-96742578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553449052	chr4:96742642-96742643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573597094	chr4:96742674-96742675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138929208	chr4:96742680-96742681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556011200	chr4:96742699-96742700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141166260	chr4:96742700-96742701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544400725	chr4:96742713-96742714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1436548	chr4:96742723-96742724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1436547	chr4:96742735-96742736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540346750	chr4:96742744-96742745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560262744	chr4:96742773-96742774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529262302	chr4:96742794-96742795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549140994	chr4:96742795-96742796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555484258	chr4:96746649-96746650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575449629	chr4:96746673-96746674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116554302	chr4:96746686-96746687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77017323	chr4:96746702-96746703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577575587	chr4:96746706-96746707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546493933	chr4:96746742-96746743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553182346	chr4:96746750-96746751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528664224	chr4:96746764-96746765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192688244	chr4:96746797-96746798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184084246	chr4:96746802-96746803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530959462	chr4:96746879-96746880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550520148	chr4:96746893-96746894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570526989	chr4:96746912-96746913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116260224	chr4:96746920-96746921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553119598	chr4:96746970-96746971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139028161	chr4:96746971-96746972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566685585	chr4:96747006-96747007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566100269	chr4:96747033-96747034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188994133	chr4:96747065-96747066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1436546	chr4:96747067-96747068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115840258	chr4:96747071-96747072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142213174	chr4:96747089-96747090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1836899	chr4:96747103-96747104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192361227	chr4:96747114-96747115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10019259	chr4:96747135-96747136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553615416	chr4:96747136-96747137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10019264	chr4:96747153-96747154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542016485	chr4:96747173-96747174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561507284	chr4:96747193-96747194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184416593	chr4:96747221-96747222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530879229	chr4:96747230-96747231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573685293	chr4:96747310-96747311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544319905	chr4:96747347-96747348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368944689	chr4:96747348-96747349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546233533	chr4:96747354-96747355	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96742400-96742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:96746600-96747400	Enhancers	Brain Germinal Matrix	brain
3	chr4:96746800-96747200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:96750800-96751600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:96751000-96751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:96751000-96751600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:96751000-96751600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:96751200-96751400	Enhancers	Brain Hippocampus Middle	brain
9	chr4:96751400-96755000	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:96751600-96754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:96751800-96752200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:96752000-96752400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:96752000-96752600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:96752200-96752600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:96752200-96752600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:96752400-96755000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:96752600-96755000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:96752600-96756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:96754800-96755400	Enhancers	Brain Angular Gyrus	brain
20	chr4:96754800-96756000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:96755000-96755200	Enhancers	Brain Substantia Nigra	brain
22	chr4:96755000-96755400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:96755000-96755400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:96755000-96755400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:96755000-96755400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:96755000-96755600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:96755000-96756000	Enhancers	Brain Hippocampus Middle	brain
28	chr4:96755400-96756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:96755400-96756800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:96755400-96756800	Weak transcription	Brain Substantia Nigra	brain
31	chr4:96756000-96758600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:96756800-96757000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:96756800-96757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:96756800-96757200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:96756800-96757200	Enhancers	Brain Substantia Nigra	brain
36	chr4:96757000-96757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:96757000-96759200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:96757200-96759400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:96758600-96760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:96758600-96760600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:96758600-96760800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:96758800-96760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:96758800-96760200	Enhancers	Fetal Heart	heart
44	chr4:96758800-96761000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:96759000-96759600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:96759200-96760000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:96759200-96760200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:96759400-96759600	Enhancers	Brain Substantia Nigra	brain
49	chr4:96759400-96759800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:96759400-96760200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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