Variant report

Variant	nsv524587
Chromosome Location	chr8:6114273-6131269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 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	chr8:6128430-6128600	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:6128333-6128520	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:6116140-6116290	GM12864	blood:	n/a	n/a
6	CTCF	chr8:6116066-6116281	K562	blood:	n/a	n/a
7	CTCF	chr8:6116083-6116266	HepG2	liver:	n/a	n/a
8	CTCF	chr8:6116081-6116295	LNCaP	prostate:	n/a	n/a
9	CTCF	chr8:6116100-6116250	NHLF	lung:	n/a	n/a
10	CTCF	chr8:6116100-6116250	A549	lung:	n/a	n/a
11	CTCF	chr8:6116080-6116230	GM12866	blood:	n/a	n/a
12	CTCF	chr8:6116100-6116250	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr8:6116120-6116270	HEK293	kidney:	n/a	n/a
14	CTCF	chr8:6115998-6116332	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:6115964-6116428	K562	blood:	n/a	n/a
16	CTCF	chr8:6116065-6116286	A549	lung:	n/a	n/a
17	CTCF	chr8:6116008-6116244	K562	blood:	n/a	n/a
18	CTCF	chr8:6116046-6116323	T-47D	breast:	n/a	n/a
19	CTCF	chr8:6116080-6116230	GM12874	blood:	n/a	n/a
20	CTCF	chr8:6116100-6116250	K562	blood:	n/a	n/a
21	CTCF	chr8:6116055-6116301	Medullo	brain:	n/a	n/a
22	CTCF	chr8:6115920-6116070	BE2_C	brain:	n/a	n/a
23	CTCF	chr8:6116138-6116263	GM10248	blood:	n/a	n/a
24	CTCF	chr8:6116080-6116230	BE2_C	brain:	n/a	n/a
25	CTCF	chr8:6116040-6116190	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:6116160-6116241	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:6116140-6116290	GM12869	blood:	n/a	n/a
28	CTCF	chr8:6116060-6116210	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:6115894-6116460	HCT-116	colon:	n/a	n/a
30	CTCF	chr8:6116064-6116253	GM13977	blood:	n/a	n/a
31	CTCF	chr8:6116100-6116250	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr8:6116120-6116270	SAEC	small airway:	n/a	n/a
33	CTCF	chr8:6116160-6116310	A549	lung:	n/a	n/a
34	CTCF	chr8:6116124-6116218	GM10266	blood:	n/a	n/a
35	CTCF	chr8:6116160-6116310	GM12872	blood:	n/a	n/a
36	CTCF	chr8:6116131-6116247	A549	lung:	n/a	n/a
37	CTCF	chr8:6116141-6116268	GM19239	blood:	n/a	n/a
38	CTCF	chr8:6115980-6116130	GM12871	blood:	n/a	n/a
39	CTCF	chr8:6116082-6116275	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr8:6116160-6116310	SAEC	small airway:	n/a	n/a
41	CTCF	chr8:6116080-6116290	LNCaP	prostate:	n/a	n/a
42	CTCF	chr8:6116140-6116290	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr8:6116100-6116250	GM12878	blood:	n/a	n/a
44	CTCF	chr8:6116102-6116269	GM12878	blood:	n/a	n/a
45	CTCF	chr8:6116122-6116203	GM13976	blood:	n/a	n/a
46	CTCF	chr8:6116120-6116270	GM12867	blood:	n/a	n/a
47	CTCF	chr8:6116180-6116330	RPTEC	kidney:	n/a	n/a
48	CTCF	chr8:6116140-6116290	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:6116020-6116170	HCT-116	colon:	n/a	n/a
50	CTCF	chr8:6116080-6116230	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6118575-6118625	BJ	skin:	n/a
2	chr8:6118526-6118576	HMEC	breast:	n/a
3	chr8:6118526-6118576	BE2_C	brain:	n/a
4	chr8:6118526-6118576	RPTEC	kidney:	n/a
5	chr8:6118526-6118576	Hela-S3	cervix:	n/a
6	chr8:6118526-6118576	SK-N-MC	brain:	n/a
7	chr8:6118526-6118576	HepG2	liver:	n/a
8	chr8:6118526-6118576	MCF-7	breast:	n/a
9	chr8:6118526-6118576	SAEC	small airway:	n/a
10	chr8:6118526-6118576	HIPEpiC	eye:	n/a
11	chr8:6118526-6118576	K562	blood:	n/a
12	chr8:6118526-6118576	T-47D	breast:	n/a
13	chr8:6118575-6118625	GM12878	blood:	n/a
14	chr8:6118575-6118625	HCM	heart:	n/a
15	chr8:6118526-6118576	Caco-2	colon:	n/a
16	chr8:6118526-6118576	IMR90	lung:	fetal
17	chr8:6118526-6118576	PANC-1	pancreas:	n/a
18	chr8:6118575-6118625	IMR90	lung:	fetal
19	chr8:6118526-6118576	HCM	heart:	n/a
20	chr8:6118526-6118576	NHBE	bronchial:	n/a
21	chr8:6118526-6118576	HL-60	blood:	n/a
22	chr8:6118575-6118625	HUVEC	blood vessel:	n/a
23	chr8:6118575-6118625	HCT-116	colon:	n/a
24	chr8:6118526-6118576	U87	brain:	n/a
25	chr8:6118575-6118625	GM19239	blood:	n/a
26	chr8:6118575-6118625	U87	brain:	n/a
27	chr8:6118526-6118576	MCF10A-Er-Src	breast:	n/a
28	chr8:6118575-6118625	HPAEpiC	pulmonary alveolar:	n/a
29	chr8:6118526-6118576	HEK293	kidney:	embryo
30	chr8:6118526-6118576	HEEpiC	esophagus:	n/a
31	chr8:6118526-6118576	SK-N-SH_RA	brain:	n/a
32	chr8:6118526-6118576	SK-N-SH	brain:	n/a
33	chr8:6118526-6118576	PFSK-1	brain:	n/a
34	chr8:6118575-6118625	GM12892	blood:	n/a
35	chr8:6118526-6118576	Hepatocyte	liver:	n/a
36	chr8:6118526-6118576	HUVEC	blood vessel:	n/a
37	chr8:6118575-6118625	AG09319	gingival:	n/a
38	chr8:6118526-6118576	H1-hESC	embryonic stem cell:	embryo
39	chr8:6118575-6118625	MCF-7	breast:	n/a
40	chr8:6118526-6118576	Jurkat	blood:	n/a
41	chr8:6118575-6118625	BE2_C	brain:	n/a
42	chr8:6118526-6118576	GM12878	blood:	n/a
43	chr8:6118575-6118625	HAEpiC	amniotic membrane:	n/a
44	chr8:6118575-6118625	AG04450	lung:	fetal
45	chr8:6118575-6118625	A549	lung:	n/a
46	chr8:6118575-6118625	AoSMC	blood vessel:	n/a
47	chr8:6118575-6118625	SK-N-SH	brain:	n/a
48	chr8:6118575-6118625	SK-N-SH_RA	brain:	n/a
49	chr8:6118575-6118625	HCPEpiC	choroid plexus:	n/a
50	chr8:6118526-6118576	AG04449	skin:	fetal

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

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

(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: 656 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4537324	chr8:6114273-6114274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182853900	chr8:6114281-6114282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4557724	chr8:6114314-6114315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562686897	chr8:6114320-6114321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576086234	chr8:6114338-6114339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542274781	chr8:6114340-6114341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562037720	chr8:6114348-6114349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537137958	chr8:6114355-6114356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116935614	chr8:6114359-6114360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571036244	chr8:6114386-6114387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76452939	chr8:6114411-6114412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78037570	chr8:6114420-6114421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550349387	chr8:6114457-6114458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570296480	chr8:6114460-6114461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200745134	chr8:6114475-6114476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139546537	chr8:6114476-6114477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376380341	chr8:6114478-6114479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535731975	chr8:6114493-6114494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554171961	chr8:6114499-6114500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4628277	chr8:6114507-6114508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188361917	chr8:6114519-6114520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59582814	chr8:6114536-6114537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144342959	chr8:6114551-6114552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74375489	chr8:6114552-6114553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117669866	chr8:6114563-6114564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192085465	chr8:6114575-6114576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549345921	chr8:6114593-6114594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112964924	chr8:6114596-6114597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4240683	chr8:6114621-6114622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148781595	chr8:6114634-6114635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532654535	chr8:6114664-6114665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7819050	chr8:6114680-6114681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370483703	chr8:6114682-6114683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527647270	chr8:6114711-6114712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570621705	chr8:6114713-6114714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541519670	chr8:6114724-6114725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539647741	chr8:6114735-6114736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374244162	chr8:6114744-6114745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143693318	chr8:6114750-6114751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184684180	chr8:6114762-6114763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533459934	chr8:6114767-6114768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146826266	chr8:6114775-6114776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561957104	chr8:6114781-6114782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566113283	chr8:6114828-6114829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534997207	chr8:6114834-6114835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373985756	chr8:6114835-6114836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189448278	chr8:6114844-6114845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558173113	chr8:6114848-6114849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192366681	chr8:6114876-6114877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140473247	chr8:6114897-6114898	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6112800-6114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:6119400-6120000	Enhancers	Brain Germinal Matrix	brain
5	chr8:6119400-6120000	Enhancers	Osteobl	bone
6	chr8:6119400-6120200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:6120000-6121000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:6120200-6120800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:6120800-6121200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:6121000-6121200	Enhancers	Brain Germinal Matrix	brain
11	chr8:6122200-6123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:6128200-6128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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