Variant report

Variant	nsv981163
Chromosome Location	chr6:87606791-87613920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:87608120-87608193	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr6:87608082-87608207	GM12878	blood:	n/a	n/a
3	FOXA1	chr6:87607744-87608000	HepG2	liver:	n/a	n/a
4	FOXA2	chr6:87607661-87608167	A549	lung:	n/a	n/a
5	FOXA2	chr6:87607600-87608282	A549	lung:	n/a	n/a
6	GABPA	chr6:87608077-87608242	GM12878	blood:	n/a	n/a
7	MAZ	chr6:87613711-87613911	HepG2	liver:	n/a	n/a
8	MYC	chr6:87607797-87607879	MCF-7	breast:	n/a	n/a
9	POLR2A	chr6:87607687-87607984	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:87608048-87608199	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:87607795-87607803	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:87607867-87607879	MCF-7	breast:	n/a	n/a
13	REST	chr6:87608114-87608216	PANC-1	pancreas:	n/a	n/a
14	SRF	chr6:87608110-87608242	GM12878	blood:	n/a	n/a
15	TAF1	chr6:87607693-87607992	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr6:87608077-87608217	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:87607178-87607228	H1-hESC	embryonic stem cell:	embryo
2	chr6:87607655-87607705	Jurkat	blood:	n/a
3	chr6:87607655-87607705	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:87607655-87607705	HIPEpiC	eye:	n/a
5	chr6:87607161-87607211	HEK293	kidney:	embryo
6	chr6:87607161-87607211	HMEC	breast:	n/a
7	chr6:87607161-87607211	Hepatocyte	liver:	n/a
8	chr6:87607161-87607211	LNCaP	prostate:	n/a
9	chr6:87607161-87607211	H1-hESC	embryonic stem cell:	embryo
10	chr6:87607161-87607211	Caco-2	colon:	n/a
11	chr6:87607744-87607794	PANC-1	pancreas:	n/a
12	chr6:87607178-87607228	NHBE	bronchial:	n/a
13	chr6:87607655-87607705	GM12878	blood:	n/a
14	chr6:87607655-87607705	AoSMC	blood vessel:	n/a
15	chr6:87607178-87607228	GM19239	blood:	n/a
16	chr6:87607178-87607228	T-47D	breast:	n/a
17	chr6:87607195-87607245	PFSK-1	brain:	n/a
18	chr6:87607744-87607794	AoSMC	blood vessel:	n/a
19	chr6:87607195-87607245	ovcar-3	ovarian:	n/a
20	chr6:87607195-87607245	HCPEpiC	choroid plexus:	n/a
21	chr6:87607744-87607794	AG09319	gingival:	n/a
22	chr6:87607744-87607794	IMR90	lung:	fetal
23	chr6:87607195-87607245	HCF	heart:	n/a
24	chr6:87607655-87607705	ovcar-3	ovarian:	n/a
25	chr6:87607178-87607228	HRPEpiC	eye:	n/a
26	chr6:87607161-87607211	HUVEC	blood vessel:	n/a
27	chr6:87607178-87607228	NH-A	brain:	n/a
28	chr6:87607195-87607245	NHBE	bronchial:	n/a
29	chr6:87607178-87607228	PrEC	prostate:	n/a
30	chr6:87607744-87607794	Caco-2	colon:	n/a
31	chr6:87607195-87607245	HUVEC	blood vessel:	n/a
32	chr6:87607178-87607228	HRCEpiC	kidney:	n/a
33	chr6:87607744-87607794	AG04450	lung:	fetal
34	chr6:87607655-87607705	AG09319	gingival:	n/a
35	chr6:87607744-87607794	SAEC	small airway:	n/a
36	chr6:87607161-87607211	SAEC	small airway:	n/a
37	chr6:87607655-87607705	SK-N-MC	brain:	n/a
38	chr6:87607178-87607228	GM12878	blood:	n/a
39	chr6:87607178-87607228	HMEC	breast:	n/a
40	chr6:87607744-87607794	CMK	blood:	n/a
41	chr6:87607178-87607228	HNPCEpiC	eye:	n/a
42	chr6:87607195-87607245	H1-hESC	embryonic stem cell:	embryo
43	chr6:87607161-87607211	HCM	heart:	n/a
44	chr6:87607655-87607705	SKMC	muscle:	n/a
45	chr6:87607195-87607245	LNCaP	prostate:	n/a
46	chr6:87607195-87607245	Hela-S3	cervix:	n/a
47	chr6:87607744-87607794	HL-60	blood:	n/a
48	chr6:87607655-87607705	HRCEpiC	kidney:	n/a
49	chr6:87607655-87607705	AG04449	skin:	fetal
50	chr6:87607195-87607245	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000217769	TF binding region
ENSG00000220240	TF binding region
ENSG00000217769	CpG island
ENSG00000220240	CpG island

Extended variants
information (count: 140 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374941372	chr6:87607162-87607163	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs386703485	chr6:87607168-87607169	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs72912421	chr6:87607169-87607170	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571283353	chr6:87607178-87607179	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs538759310	chr6:87607179-87607180	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs145224786	chr6:87607180-87607181	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs572262252	chr6:87607187-87607188	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs181766279	chr6:87607191-87607192	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs554804118	chr6:87607195-87607196	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs576270781	chr6:87607196-87607197	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs544560546	chr6:87607198-87607199	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs147600746	chr6:87607208-87607209	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs533184152	chr6:87607209-87607210	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs35739186	chr6:87607219-87607220	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs545084525	chr6:87607222-87607223	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs140404169	chr6:87607227-87607228	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs527874394	chr6:87607231-87607232	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs200437091	chr6:87607244-87607245	Bivalent/Poised TSS Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs549314681	chr6:87607248-87607249	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs114374613	chr6:87607278-87607279	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs9450568	chr6:87607330-87607331	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549719765	chr6:87607341-87607342	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs61742890	chr6:87607349-87607350	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs61742892	chr6:87607358-87607359	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144263336	chr6:87607376-87607377	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs565787175	chr6:87607394-87607395	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs536408833	chr6:87607397-87607398	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs554484000	chr6:87607421-87607422	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs13194114	chr6:87607444-87607445	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs183043185	chr6:87607445-87607446	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558847577	chr6:87607467-87607468	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs151146528	chr6:87607477-87607478	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs112737344	chr6:87607478-87607479	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs112314866	chr6:87607484-87607485	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs150489907	chr6:87607487-87607488	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs186724261	chr6:87607488-87607489	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs543170232	chr6:87607495-87607496	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113321157	chr6:87607506-87607507	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs35633024	chr6:87607527-87607528	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs370596418	chr6:87607539-87607540	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs183125320	chr6:87607554-87607555	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs367913988	chr6:87607561-87607562	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs565628449	chr6:87607562-87607563	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs9450569	chr6:87607577-87607578	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141375073	chr6:87607584-87607585	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs565748670	chr6:87607585-87607586	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs537034731	chr6:87607588-87607589	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs9450570	chr6:87607589-87607590	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569737738	chr6:87607603-87607604	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376883784	chr6:87607612-87607613	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87607200-87607400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:87607200-87607400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr6:87607200-87607400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr6:87607200-87607400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr6:87607200-87607600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr6:87607200-87607600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:87607200-87607600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:87607200-87607800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:87607400-87607600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:87607400-87607600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:87607400-87607600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:87607400-87607600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:87607400-87608000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:87607400-87608000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:87607400-87608400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:87607600-87607800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:87607600-87608000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:87607600-87608200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:87607600-87608200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:87607600-87608400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:87607600-87608400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:87608400-87608600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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