Variant report

Variant	nsv523290
Chromosome Location	chr8:100708595-100717925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:100715387..100717513-chr8:100719961..100722930,2	K562	blood:
2	chr8:100708369..100711314-chr8:100713303..100715085,2	MCF-7	breast:
3	chr8:100717456..100719730-chr8:100748168..100750293,2	MCF-7	breast:
4	chr8:100712738..100714435-chr8:100716061..100717614,2	K562	blood:
5	chr8:100700326..100701994-chr8:100715274..100717581,2	K562	blood:
6	chr8:100711733..100714570-chr8:100716914..100719775,2	MCF-7	breast:
7	chr8:100707994..100711279-chr8:100711487..100714977,4	K562	blood:
8	chr8:100714775..100716428-chr8:100716613..100718329,2	MCF-7	breast:
9	chr8:100711733..100714570-chr8:100716914..100719775,2	MCF-7	breast:
10	chr8:100717025..100719851-chr8:100729723..100732279,2	K562	blood:
11	chr8:100714775..100716428-chr8:100716613..100718329,2	MCF-7	breast:
12	chr8:100708369..100711314-chr8:100713303..100715085,2	MCF-7	breast:
13	chr8:100715916..100717513-chr8:100721890..100724335,2	K562	blood:
14	chr8:100707994..100711168-chr8:100711657..100714977,4	K562	blood:
15	chr8:100712738..100714435-chr8:100716061..100717614,2	K562	blood:
16	chr8:100715769..100720445-chr8:100721674..100725414,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235683	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4735633	chr8:100708595-100708596	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531451865	chr8:100708621-100708622	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551371256	chr8:100708635-100708636	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571203462	chr8:100708690-100708691	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527323287	chr8:100708691-100708692	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547264021	chr8:100708699-100708700	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376875782	chr8:100708702-100708703	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567099500	chr8:100708710-100708711	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550037771	chr8:100708711-100708712	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147650431	chr8:100708720-100708721	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555549389	chr8:100708722-100708723	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112040498	chr8:100708735-100708736	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181339445	chr8:100708764-100708765	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557998573	chr8:100708774-100708775	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186514200	chr8:100708788-100708789	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577950883	chr8:100708806-100708807	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190288261	chr8:100708825-100708826	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs554029257	chr8:100708871-100708872	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537266776	chr8:100708890-100708891	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146052835	chr8:100708914-100708915	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542810874	chr8:100708931-100708932	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562696008	chr8:100708945-100708946	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182931086	chr8:100708962-100708963	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545112233	chr8:100708963-100708964	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77268705	chr8:100708982-100708983	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527276033	chr8:100708998-100708999	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376236916	chr8:100709065-100709066	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73271355	chr8:100709069-100709070	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186151530	chr8:100709138-100709139	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140502344	chr8:100709154-100709155	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549138205	chr8:100709172-100709173	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569087720	chr8:100709177-100709178	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538080519	chr8:100709222-100709223	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551840311	chr8:100709271-100709272	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116059475	chr8:100709296-100709297	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534147910	chr8:100709297-100709298	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553897218	chr8:100709317-100709318	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573956420	chr8:100709338-100709339	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536531205	chr8:100709370-100709371	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556534759	chr8:100709374-100709375	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs150419969	chr8:100709380-100709381	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544921891	chr8:100709426-100709427	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564949121	chr8:100709436-100709437	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572056868	chr8:100709439-100709440	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551218108	chr8:100709447-100709448	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190971405	chr8:100709502-100709503	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184007869	chr8:100709513-100709514	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549250672	chr8:100709517-100709518	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534270430	chr8:100709537-100709538	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79280503	chr8:100709538-100709539	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
Multiple myeloma	16461302	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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100688800-100711400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:100692000-100711800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:100695200-100709800	Weak transcription	Pancreas	Pancrea
6	chr8:100698000-100716000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:100698200-100714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:100698400-100709800	Weak transcription	Right Ventricle	heart
9	chr8:100698400-100711000	Weak transcription	HMEC	breast
10	chr8:100698400-100711400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:100698400-100714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:100698600-100711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:100698600-100711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:100699000-100718000	Weak transcription	K562	blood
15	chr8:100699400-100711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:100699400-100712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:100699400-100712400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100699400-100714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:100699600-100714600	Weak transcription	Ovary	ovary
20	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:100700000-100712600	Weak transcription	Gastric	stomach
23	chr8:100700000-100714600	Weak transcription	Aorta	Aorta
24	chr8:100700000-100714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:100700000-100716000	Weak transcription	Adipose Nuclei	Adipose
26	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:100700800-100711200	Weak transcription	Primary T cells from cord blood	blood
28	chr8:100703600-100711800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:100703800-100712600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:100707600-100712000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:100707600-100712600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:100708200-100708600	Strong transcription	Primary B cells from cord blood	blood
34	chr8:100708200-100708800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:100708200-100709000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:100708200-100709200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:100708200-100709400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr8:100708200-100709600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:100708200-100709600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:100708200-100709600	Strong transcription	HSMMtube	muscle
41	chr8:100708200-100709800	ZNF genes & repeats	Fetal Stomach	stomach
42	chr8:100708200-100710000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:100708400-100708800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:100708600-100710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:100708600-100711400	Weak transcription	Primary B cells from cord blood	blood
47	chr8:100708800-100710000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:100709000-100709200	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr8:100709000-100709200	Enhancers	Esophagus	oesophagus
50	chr8:100709200-100710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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