Variant report

Variant	nsv611715
Chromosome Location	chr8:89794519-89828820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:89799915-89800095	K562	blood:	n/a	n/a
2	CEBPB	chr8:89815880-89815985	HepG2	liver:	n/a	chr8:89815931-89815942 chr8:89815930-89815943
3	CTCF	chr8:89823923-89824185	MCF-7	breast:	n/a	n/a
4	CTCF	chr8:89823980-89824130	SAEC	small airway:	n/a	n/a
5	CTCF	chr8:89824000-89824150	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:89808093-89808142	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr8:89823920-89824070	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr8:89823960-89824110	AG04450	lung:	n/a	n/a
9	CTCF	chr8:89824021-89824117	LNCaP	prostate:	n/a	n/a
10	CTCF	chr8:89823920-89824070	HCT-116	colon:	n/a	n/a
11	CTCF	chr8:89823943-89824092	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:89823944-89824090	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:89823968-89824152	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr8:89823900-89824050	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr8:89824020-89824170	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr8:89823884-89824342	HCT-116	colon:	n/a	n/a
17	CTCF	chr8:89823980-89824130	GM12872	blood:	n/a	n/a
18	CTCF	chr8:89823987-89824162	LNCaP	prostate:	n/a	n/a
19	CTCF	chr8:89819640-89819790	HRE	kidney:	n/a	n/a
20	CTCF	chr8:89823980-89824130	HMEC	breast:	n/a	n/a
21	CTCF	chr8:89823960-89824110	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr8:89824000-89824150	HRE	kidney:	n/a	n/a
23	CTCF	chr8:89823940-89824090	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr8:89823960-89824110	GM12871	blood:	n/a	n/a
25	CTCF	chr8:89823960-89824110	NHEK	skin:	n/a	n/a
26	CTCF	chr8:89823985-89824075	Fibrobl	skin:	n/a	n/a
27	CTCF	chr8:89824080-89824230	A549	lung:	n/a	n/a
28	CTCF	chr8:89823936-89824211	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:89823960-89824110	HFF	foreskin:	n/a	n/a
30	CTCF	chr8:89823940-89824090	Caco-2	colon:	n/a	n/a
31	CTCF	chr8:89824000-89824150	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr8:89824020-89824170	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr8:89796745-89796875	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:89824000-89824150	SAEC	small airway:	n/a	n/a
35	CTCF	chr8:89823980-89824130	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr8:89823900-89824050	RPTEC	kidney:	n/a	n/a
37	CTCF	chr8:89823940-89824090	HEK293	kidney:	n/a	n/a
38	CTCF	chr8:89823929-89824190	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr8:89823838-89824289	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:89824000-89824150	HMEC	breast:	n/a	n/a
41	CTCF	chr8:89823840-89823990	A549	lung:	n/a	n/a
42	CTCF	chr8:89796776-89796834	MCF-7	breast:	n/a	n/a
43	CTCF	chr8:89819420-89819570	HRE	kidney:	n/a	n/a
44	CTCF	chr8:89823902-89824239	GM12878	blood:	n/a	n/a
45	CTCF	chr8:89824040-89824135	HepG2	liver:	n/a	n/a
46	CTCF	chr8:89823960-89824110	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr8:89823960-89824110	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr8:89823953-89824105	ProgFib	skin:	n/a	n/a
49	CTCF	chr8:89824033-89824090	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr8:89823880-89824030	HCT-116	colon:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89340717..89341497-chr8:89823523..89824135,2	MCF-7	breast:
2	chr8:89818784..89820369-chr8:89820936..89822501,2	MCF-7	breast:
3	chr8:89794068..89795764-chr8:89807097..89809455,2	MCF-7	breast:
4	chr8:89809461..89810989-chr8:89814329..89816042,2	K562	blood:
5	chr8:89795626..89797821-chr8:89798441..89801193,3	MCF-7	breast:
6	chr8:89795626..89797821-chr8:89798441..89801193,3	MCF-7	breast:
7	chr8:89809461..89810989-chr8:89814329..89816042,2	K562	blood:
8	chr8:89794068..89795764-chr8:89807097..89809455,2	MCF-7	breast:
9	chr8:89566591..89567525-chr8:89823590..89824198,2	MCF-7	breast:
10	chr21:47742904..47745243-chr8:89801334..89803902,2	MCF-7	breast:
11	chr8:89814209..89816612-chr8:89819273..89821915,2	K562	blood:
12	chr8:89725334..89726635-chr8:89823867..89824656,3	MCF-7	breast:
13	chr8:89826530..89828949-chr8:89832664..89834256,2	MCF-7	breast:
14	chr8:89304192..89305173-chr8:89823627..89824192,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMP16-4	chr8:89820547-89821137	ENSG00000271156.1

No data

Variant related genes	Relation type
ENSG00000271156	TF binding region
ENSG00000160299	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000271156	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566035077	chr8:89801362-89801363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576854454	chr8:89801369-89801370	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77890520	chr8:89801374-89801375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529753292	chr8:89801383-89801384	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10481065	chr8:89801394-89801395	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs16887460	chr8:89801396-89801397	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541386318	chr8:89801418-89801419	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559605763	chr8:89801422-89801423	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141174545	chr8:89801427-89801428	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143433569	chr8:89801509-89801510	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531159418	chr8:89801537-89801538	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35848527	chr8:89801570-89801571	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12386856	chr8:89801603-89801604	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189063653	chr8:89801615-89801616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148385120	chr8:89801628-89801629	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141582985	chr8:89801668-89801669	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571180064	chr8:89801672-89801673	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538272024	chr8:89801673-89801674	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553688581	chr8:89801679-89801680	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565643553	chr8:89801719-89801720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536341128	chr8:89801780-89801781	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558764109	chr8:89801781-89801782	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185912825	chr8:89801809-89801810	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528592529	chr8:89801822-89801823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571205869	chr8:89801899-89801900	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55943835	chr8:89801901-89801902	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs36033046	chr8:89801913-89801914	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553165183	chr8:89801914-89801915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs374398334	chr8:89801921-89801922	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537766563	chr8:89801939-89801940	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546681543	chr8:89802038-89802039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1498528	chr8:89802068-89802069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10088635	chr8:89802069-89802070	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541074913	chr8:89802092-89802093	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10088729	chr8:89802096-89802097	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190717753	chr8:89802108-89802109	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567830181	chr8:89802161-89802162	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370662023	chr8:89802178-89802179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184091138	chr8:89802194-89802195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548273514	chr8:89802235-89802236	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200305690	chr8:89802252-89802253	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201385085	chr8:89802253-89802254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531426873	chr8:89802267-89802268	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10088959	chr8:89802309-89802310	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564847580	chr8:89802311-89802312	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532391802	chr8:89802316-89802317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146193505	chr8:89802324-89802325	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs398112734	chr8:89802332-89802333	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547122955	chr8:89802333-89802334	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs28623316	chr8:89802394-89802395	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89811400-89812000	Enhancers	Fetal Brain Male	brain
2	chr8:89812800-89813200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:89821200-89821400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:89823600-89823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:89823600-89823800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:89823800-89824000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:89823800-89825000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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