Variant report

Variant	nsv1031637
Chromosome Location	chr8:6112269-6137008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
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	BATF	chr8:6125905-6126127	GM12878	blood:	n/a	n/a
2	CEBPB	chr8:6128437-6128476	K562	blood:	n/a	n/a
3	CEBPB	chr8:6128333-6128520	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:6132470-6132485	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:6128430-6128600	HepG2	liver:	n/a	n/a
6	CTCF	chr8:6116080-6116230	HCFaa	heart:	n/a	n/a
7	CTCF	chr8:6116055-6116301	Medullo	brain:	n/a	n/a
8	CTCF	chr8:6116080-6116230	GM12873	blood:	n/a	n/a
9	CTCF	chr8:6116060-6116210	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:6115964-6116428	K562	blood:	n/a	n/a
11	CTCF	chr8:6116080-6116290	LNCaP	prostate:	n/a	n/a
12	CTCF	chr8:6115820-6115970	GM12878	blood:	n/a	n/a
13	CTCF	chr8:6115710-6116473	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr8:6116060-6116210	GM12872	blood:	n/a	n/a
15	CTCF	chr8:6116080-6116230	NB4	blood:	n/a	n/a
16	CTCF	chr8:6116083-6116266	HepG2	liver:	n/a	n/a
17	CTCF	chr8:6116160-6116241	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:6116100-6116250	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr8:6116080-6116230	HPF	lung:	n/a	n/a
20	CTCF	chr8:6115960-6116110	A549	lung:	n/a	n/a
21	CTCF	chr8:6116009-6116369	GM12878	blood:	n/a	n/a
22	CTCF	chr8:6116060-6116210	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:6116100-6116250	A549	lung:	n/a	n/a
24	CTCF	chr8:6116126-6116238	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:6115998-6116332	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:6116122-6116203	GM13976	blood:	n/a	n/a
27	CTCF	chr8:6116170-6116237	GM12892	blood:	n/a	n/a
28	CTCF	chr8:6115991-6116280	A549	lung:	n/a	n/a
29	CTCF	chr8:6116140-6116290	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr8:6116124-6116218	GM10266	blood:	n/a	n/a
31	CTCF	chr8:6116100-6116250	NHLF	lung:	n/a	n/a
32	CTCF	chr8:6116140-6116290	GM12873	blood:	n/a	n/a
33	CTCF	chr8:6116050-6116354	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr8:6116089-6116275	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr8:6116080-6116230	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr8:6126841-6126881	GM13976	blood:	n/a	n/a
37	CTCF	chr8:6116080-6116230	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr8:6116082-6116275	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr8:6116120-6116270	HEK293	kidney:	n/a	n/a
40	CTCF	chr8:6116103-6116258	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:6116100-6116250	K562	blood:	n/a	n/a
42	CTCF	chr8:6116160-6116310	A549	lung:	n/a	n/a
43	CTCF	chr8:6116040-6116190	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:6116008-6116244	K562	blood:	n/a	n/a
45	CTCF	chr8:6116040-6116190	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr8:6116120-6116270	Caco-2	colon:	n/a	n/a
47	CTCF	chr8:6115986-6116342	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr8:6116100-6116250	HCT-116	colon:	n/a	n/a
49	CTCF	chr8:6116051-6116307	Gliobla	brain:	n/a	n/a
50	CTCF	chr8:6116064-6116253	GM13977	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6118526-6118576	HCPEpiC	choroid plexus:	n/a
2	chr8:6118526-6118576	HRPEpiC	eye:	n/a
3	chr8:6118575-6118625	HCF	heart:	n/a
4	chr8:6118575-6118625	HEK293	kidney:	embryo
5	chr8:6118575-6118625	GM12878	blood:	n/a
6	chr8:6118526-6118576	T-47D	breast:	n/a
7	chr8:6118575-6118625	HUVEC	blood vessel:	n/a
8	chr8:6118575-6118625	HL-60	blood:	n/a
9	chr8:6118526-6118576	NT2-D1	testis:	n/a
10	chr8:6118575-6118625	MCF-7	breast:	n/a
11	chr8:6118575-6118625	HRE	kidney:	n/a
12	chr8:6118575-6118625	AG09309	skin:	n/a
13	chr8:6118526-6118576	GM12878	blood:	n/a
14	chr8:6118575-6118625	HEEpiC	esophagus:	n/a
15	chr8:6118575-6118625	HIPEpiC	eye:	n/a
16	chr8:6118575-6118625	HCM	heart:	n/a
17	chr8:6118526-6118576	IMR90	lung:	fetal
18	chr8:6118575-6118625	SK-N-SH	brain:	n/a
19	chr8:6118526-6118576	GM06990	blood:	n/a
20	chr8:6118575-6118625	Hepatocyte	liver:	n/a
21	chr8:6118575-6118625	HepG2	liver:	n/a
22	chr8:6118575-6118625	HNPCEpiC	eye:	n/a
23	chr8:6118526-6118576	RPTEC	kidney:	n/a
24	chr8:6118575-6118625	ovcar-3	ovarian:	n/a
25	chr8:6118575-6118625	HRPEpiC	eye:	n/a
26	chr8:6118526-6118576	HepG2	liver:	n/a
27	chr8:6118575-6118625	NT2-D1	testis:	n/a
28	chr8:6118575-6118625	AG04449	skin:	fetal
29	chr8:6118575-6118625	PFSK-1	brain:	n/a
30	chr8:6118575-6118625	HPAEpiC	pulmonary alveolar:	n/a
31	chr8:6118575-6118625	IMR90	lung:	fetal
32	chr8:6118526-6118576	GM19239	blood:	n/a
33	chr8:6118526-6118576	AG09319	gingival:	n/a
34	chr8:6118575-6118625	GM12891	blood:	n/a
35	chr8:6118575-6118625	HCPEpiC	choroid plexus:	n/a
36	chr8:6118526-6118576	PANC-1	pancreas:	n/a
37	chr8:6118526-6118576	SK-N-SH_RA	brain:	n/a
38	chr8:6118526-6118576	HIPEpiC	eye:	n/a
39	chr8:6118575-6118625	ProgFib	skin:	n/a
40	chr8:6118526-6118576	NHDF-neo	bronchial:	n/a
41	chr8:6118526-6118576	H1-hESC	embryonic stem cell:	embryo
42	chr8:6118575-6118625	SK-N-MC	brain:	n/a
43	chr8:6118526-6118576	HCM	heart:	n/a
44	chr8:6118575-6118625	SK-N-SH_RA	brain:	n/a
45	chr8:6118575-6118625	Jurkat	blood:	n/a
46	chr8:6118526-6118576	HNPCEpiC	eye:	n/a
47	chr8:6118526-6118576	HCT-116	colon:	n/a
48	chr8:6118575-6118625	PANC-1	pancreas:	n/a
49	chr8:6118575-6118625	ECC-1	luminal epithelium:	n/a
50	chr8:6118526-6118576	HL-60	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6115678..6116241-chr8:6687345..6688278,2	K562	blood:
2	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:
3	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:
4	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:
5	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:6114933-6115058	ENSG00000253880

No data

Variant related genes	Relation type
ENSG00000253880	TF binding region
ENSG00000253880	CpG island

Extended variants
information (count: 1160 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75303144	chr8:6112286-6112287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191923637	chr8:6112289-6112290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138481334	chr8:6112305-6112306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536462628	chr8:6112311-6112312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75390860	chr8:6112323-6112324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541236381	chr8:6112337-6112338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529378599	chr8:6112338-6112339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549199666	chr8:6112384-6112385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565911583	chr8:6112395-6112396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60243699	chr8:6112399-6112400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551621092	chr8:6112425-6112426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570434072	chr8:6112436-6112437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539014366	chr8:6112449-6112450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149231840	chr8:6112470-6112471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369926667	chr8:6112472-6112473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147354140	chr8:6112484-6112485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535520385	chr8:6112498-6112499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73504009	chr8:6112505-6112506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572243857	chr8:6112514-6112515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541352949	chr8:6112519-6112520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558043682	chr8:6112521-6112522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35150298	chr8:6112532-6112533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183130082	chr8:6112533-6112534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56247561	chr8:6112535-6112536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574076498	chr8:6112536-6112537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562937314	chr8:6112546-6112547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73190795	chr8:6112552-6112553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56339873	chr8:6112556-6112557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528620030	chr8:6112579-6112580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4454296	chr8:6112580-6112581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73190796	chr8:6112601-6112602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531223499	chr8:6112620-6112621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534607689	chr8:6112627-6112628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144920640	chr8:6112654-6112655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535568513	chr8:6112664-6112665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549068243	chr8:6112679-6112680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565891621	chr8:6112686-6112687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147543932	chr8:6112689-6112690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557981849	chr8:6112691-6112692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577892981	chr8:6112693-6112694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537328817	chr8:6112698-6112699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116540814	chr8:6112702-6112703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187842638	chr8:6112709-6112710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554885888	chr8:6112717-6112718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191195576	chr8:6112730-6112731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111923576	chr8:6112743-6112744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545236215	chr8:6112752-6112753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188231140	chr8:6112759-6112760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148556468	chr8:6112778-6112779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142932840	chr8:6112795-6112796	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6111000-6112400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:6111800-6112800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:6112200-6112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:6112200-6112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:6112400-6112600	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:6112800-6114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:6119400-6120000	Enhancers	Brain Germinal Matrix	brain
10	chr8:6119400-6120000	Enhancers	Osteobl	bone
11	chr8:6119400-6120200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:6120000-6121000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:6120200-6120800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:6120800-6121200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:6121000-6121200	Enhancers	Brain Germinal Matrix	brain
16	chr8:6122200-6123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:6128200-6128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:6132000-6132800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:6132200-6132800	Enhancers	Spleen	Spleen
20	chr8:6132200-6133600	Enhancers	Pancreas	Pancrea
21	chr8:6132800-6134800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:6132800-6149000	Weak transcription	Spleen	Spleen
23	chr8:6134800-6135000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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