Variant report

Variant	nsv966924
Chromosome Location	chr7:5070042-5086142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:489)
CpG islands
(count:794)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:5085392-5085395	K562	blood:	n/a	n/a
2	ATF1	chr7:5085242-5085579	K562	blood:	n/a	n/a
3	ATF2	chr7:5085191-5085567	GM12878	blood:	n/a	n/a
4	ATF2	chr7:5085093-5085459	GM12878	blood:	n/a	n/a
5	ATF3	chr7:5085217-5085735	A549	lung:	n/a	chr7:5085617-5085626
6	ATF3	chr7:5085248-5085580	A549	lung:	n/a	n/a
7	ATF3	chr7:5085308-5085588	K562	blood:	n/a	n/a
8	BATF	chr7:5080710-5080920	GM12878	blood:	n/a	n/a
9	BCL3	chr7:5085054-5085688	A549	lung:	n/a	chr7:5085482-5085495 chr7:5085478-5085487
10	BCLAF1	chr7:5085038-5085645	GM12878	blood:	n/a	chr7:5085482-5085495 chr7:5085045-5085054 chr7:5085478-5085487
11	BHLHE40	chr7:5085260-5085596	K562	blood:	n/a	n/a
12	BRCA1	chr7:5085418-5085730	GM12878	blood:	n/a	n/a
13	BRCA1	chr7:5085166-5085728	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:5085375-5085689	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr7:5085415-5085684	HepG2	liver:	n/a	n/a
16	CBX3	chr7:5084916-5085678	K562	blood:	n/a	n/a
17	CBX3	chr7:5084932-5085666	K562	blood:	n/a	n/a
18	CCNT2	chr7:5085402-5085915	K562	blood:	n/a	n/a
19	CEBPB	chr7:5085372-5085567	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr7:5085024-5085568	GM12878	blood:	n/a	n/a
21	CEBPD	chr7:5085339-5085763	HepG2	liver:	n/a	n/a
22	CHD1	chr7:5085121-5086439	IMR90	lung:	n/a	n/a
23	CHD2	chr7:5085257-5086091	HepG2	liver:	n/a	n/a
24	CHD2	chr7:5085161-5085787	GM12878	blood:	n/a	n/a
25	CHD2	chr7:5085303-5086041	K562	blood:	n/a	n/a
26	CHD2	chr7:5085263-5086042	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr7:5085169-5085737	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr7:5085268-5085684	A549	lung:	n/a	n/a
29	CREB1	chr7:5085325-5085535	A549	lung:	n/a	n/a
30	CREB1	chr7:5085337-5085652	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr7:5086100-5086250	GM12870	blood:	n/a	n/a
32	CTCF	chr7:5085360-5085510	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr7:5085460-5085610	GM12865	blood:	n/a	n/a
34	CTCF	chr7:5076000-5076087	GM13976	blood:	n/a	n/a
35	CTCF	chr7:5085460-5085610	HMEC	breast:	n/a	n/a
36	CTCF	chr7:5085480-5085630	GM12875	blood:	n/a	n/a
37	CTCF	chr7:5085480-5085630	Caco-2	colon:	n/a	n/a
38	CTCF	chr7:5080745-5080802	Lung_OC	lung:	n/a	n/a
39	CTCF	chr7:5085320-5085470	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr7:5085660-5085810	HMEC	breast:	n/a	n/a
41	CTCF	chr7:5085257-5085573	K562	blood:	n/a	n/a
42	CTCF	chr7:5072616-5072657	GM13976	blood:	n/a	n/a
43	CTCF	chr7:5085423-5085495	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr7:5085360-5085510	GM12865	blood:	n/a	n/a
45	CTCF	chr7:5079856-5079889	LNCaP	prostate:	n/a	n/a
46	CTCF	chr7:5085460-5085610	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr7:5071184-5071239	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr7:5085660-5085810	GM12865	blood:	n/a	n/a
49	CTCF	chr7:5085480-5085630	SAEC	small airway:	n/a	n/a
50	CTCF	chr7:5085460-5085610	AG04449	skin:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5084771-5084821	ECC-1	luminal epithelium:	n/a
2	chr7:5084771-5084821	ECC-1	luminal epithelium:	n/a
3	chr7:5085426-5085476	HMEC	breast:	n/a
4	chr7:5085252-5085302	GM06990	blood:	n/a
5	chr7:5085471-5085521	HRE	kidney:	n/a
6	chr7:5085485-5085535	HNPCEpiC	eye:	n/a
7	chr7:5085479-5085529	ECC-1	luminal epithelium:	n/a
8	chr7:5085479-5085529	H1-hESC	embryonic stem cell:	embryo
9	chr7:5084768-5084818	Hepatocyte	liver:	n/a
10	chr7:5085479-5085529	HRE	kidney:	n/a
11	chr7:5084794-5084844	HRE	kidney:	n/a
12	chr7:5085426-5085476	HCM	heart:	n/a
13	chr7:5085596-5085646	GM06990	blood:	n/a
14	chr7:5083037-5083087	HMEC	breast:	n/a
15	chr7:5085252-5085302	H1-hESC	embryonic stem cell:	embryo
16	chr7:5083037-5083087	HCF	heart:	n/a
17	chr7:5085485-5085535	HPAEpiC	pulmonary alveolar:	n/a
18	chr7:5085482-5085532	AG09309	skin:	n/a
19	chr7:5085426-5085476	Hela-S3	cervix:	n/a
20	chr7:5085745-5085795	SK-N-SH	brain:	n/a
21	chr7:5085477-5085527	GM12878	blood:	n/a
22	chr7:5085745-5085795	HCT-116	colon:	n/a
23	chr7:5085471-5085521	GM19239	blood:	n/a
24	chr7:5084771-5084821	NB4	blood:	n/a
25	chr7:5084771-5084821	HCPEpiC	choroid plexus:	n/a
26	chr7:5085745-5085795	Caco-2	colon:	n/a
27	chr7:5085596-5085646	Hela-S3	cervix:	n/a
28	chr7:5084768-5084818	GM12891	blood:	n/a
29	chr7:5085426-5085476	CMK	blood:	n/a
30	chr7:5085745-5085795	GM12891	blood:	n/a
31	chr7:5084794-5084844	BJ	skin:	n/a
32	chr7:5085479-5085529	GM12891	blood:	n/a
33	chr7:5085482-5085532	IMR90	lung:	fetal
34	chr7:5085477-5085527	MCF10A-Er-Src	breast:	n/a
35	chr7:5084771-5084821	PrEC	prostate:	n/a
36	chr7:5083037-5083087	AoSMC	blood vessel:	n/a
37	chr7:5085426-5085476	HepG2	liver:	n/a
38	chr7:5085426-5085476	NB4	blood:	n/a
39	chr7:5085426-5085476	GM19239	blood:	n/a
40	chr7:5085252-5085302	HMEC	breast:	n/a
41	chr7:5085596-5085646	PFSK-1	brain:	n/a
42	chr7:5085485-5085535	Hela-S3	cervix:	n/a
43	chr7:5084794-5084844	SK-N-MC	brain:	n/a
44	chr7:5085596-5085646	LNCaP	prostate:	n/a
45	chr7:5084771-5084821	Hepatocyte	liver:	n/a
46	chr7:5085479-5085529	NHDF-neo	bronchial:	n/a
47	chr7:5085485-5085535	HCPEpiC	choroid plexus:	n/a
48	chr7:5083037-5083087	PANC-1	pancreas:	n/a
49	chr7:5085252-5085302	HCPEpiC	choroid plexus:	n/a
50	chr7:5085479-5085529	HL-60	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5012957..5014985-chr7:5085347..5086905,2	MCF-7	breast:
2	chr7:4920954..4923771-chr7:5084405..5086180,2	K562	blood:
3	chr7:5085620..5087324-chr7:5089437..5091474,2	K562	blood:
4	chr7:5085798..5087509-chr7:5105672..5107501,2	K562	blood:

No data

Variant related genes	Relation type
RBAK	TF binding region
RBAK-RBAKDN	TF binding region
RBAK	CpG island
RBAK-RBAKDN	CpG island
ENSG00000157927	chromatin interactions
ENSG00000196204	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34607827	chr7:5070056-5070057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565393208	chr7:5070066-5070067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561549258	chr7:5070080-5070081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187202754	chr7:5070088-5070089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540925153	chr7:5070095-5070096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6957165	chr7:5070104-5070105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191032030	chr7:5070106-5070107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146529473	chr7:5070125-5070126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182926641	chr7:5070136-5070137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201710392	chr7:5070156-5070157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530553701	chr7:5070158-5070159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548630564	chr7:5070160-5070161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567472694	chr7:5070163-5070164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398066567	chr7:5070164-5070165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373935322	chr7:5070166-5070167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373342602	chr7:5070182-5070183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377022932	chr7:5070189-5070190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368829717	chr7:5070195-5070196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114585440	chr7:5070206-5070207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548883041	chr7:5070219-5070220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571499394	chr7:5070265-5070266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187683461	chr7:5070275-5070276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557428309	chr7:5070303-5070304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199533694	chr7:5070323-5070324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35306875	chr7:5070324-5070325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372851916	chr7:5070334-5070335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536765200	chr7:5070346-5070347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554718768	chr7:5070369-5070370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573395490	chr7:5070372-5070373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540512614	chr7:5070392-5070393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140702514	chr7:5070393-5070394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149673177	chr7:5070402-5070403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544487674	chr7:5070405-5070406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200009553	chr7:5070420-5070421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562960011	chr7:5070434-5070435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534421650	chr7:5070448-5070449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145503167	chr7:5070459-5070460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192657596	chr7:5070466-5070467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560779860	chr7:5070467-5070468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34029781	chr7:5070492-5070493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10258089	chr7:5070502-5070503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13234950	chr7:5070528-5070529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571407267	chr7:5070592-5070593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6980133	chr7:5070594-5070595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184876889	chr7:5070609-5070610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371572505	chr7:5070679-5070680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6980302	chr7:5070712-5070713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536609730	chr7:5070753-5070754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554939985	chr7:5070759-5070760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187553484	chr7:5070777-5070778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5038800-5085000	Weak transcription	Spleen	Spleen
2	chr7:5039000-5076200	Weak transcription	Brain Anterior Caudate	brain
3	chr7:5039000-5078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:5039400-5085000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:5049400-5072200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:5050600-5071800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:5051200-5072400	Weak transcription	Fetal Kidney	kidney
8	chr7:5051200-5085200	Weak transcription	Aorta	Aorta
9	chr7:5051800-5085000	Weak transcription	Brain Germinal Matrix	brain
10	chr7:5052000-5085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:5059800-5075800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:5060000-5080800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:5060200-5076000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:5060200-5085000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:5060600-5073600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:5060800-5078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:5060800-5080800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:5060800-5083000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:5062600-5085000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:5063600-5079000	Weak transcription	Pancreas	Pancrea
21	chr7:5064600-5074800	Weak transcription	Fetal Stomach	stomach
22	chr7:5067800-5077200	Weak transcription	Gastric	stomach
23	chr7:5068000-5077400	Weak transcription	Lung	lung
24	chr7:5068000-5085000	Weak transcription	Ovary	ovary
25	chr7:5068600-5085000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:5071400-5071600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:5071600-5080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:5073200-5085000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:5073600-5073800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:5074800-5077400	Strong transcription	Fetal Stomach	stomach
31	chr7:5075800-5076400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr7:5076000-5077600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:5076400-5080800	Weak transcription	Thymus	Thymus
34	chr7:5076400-5085000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:5077400-5077800	Strong transcription	Lung	lung
36	chr7:5077400-5085000	Weak transcription	Fetal Stomach	stomach
37	chr7:5077600-5085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:5077800-5085200	Weak transcription	Lung	lung
39	chr7:5080000-5080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:5080200-5081000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:5080600-5081200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:5080600-5081400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:5080600-5081800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:5080600-5081800	Enhancers	Fetal Thymus	thymus
45	chr7:5080800-5081200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:5080800-5081200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:5080800-5081200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5080800-5081400	Enhancers	Primary T cells from cord blood	blood
49	chr7:5080800-5081400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:5080800-5081400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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