Variant report

Variant	nsv971681
Chromosome Location	chr8:87516010-87519129
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
2	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
3	chr8:86130748..86132685-chr8:87519056..87520763,2	K562	blood:
4	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
5	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:
6	chr8:87502703..87505600-chr8:87516765..87518527,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNGB3-1	chr8:87517059-87517608	NONHSAT127560

No data

Variant related genes	Relation type
ENSG00000085719	chromatin interactions
ENSG00000250569	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000176731	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570487239	chr8:87516095-87516096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539082172	chr8:87516104-87516105	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556089357	chr8:87516105-87516106	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150513858	chr8:87516110-87516111	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544898602	chr8:87516122-87516123	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555246785	chr8:87516134-87516135	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72690429	chr8:87516178-87516179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72690431	chr8:87516230-87516231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139402843	chr8:87516245-87516246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372882080	chr8:87516269-87516270	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532612622	chr8:87516281-87516282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545894787	chr8:87516333-87516334	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570182205	chr8:87516339-87516340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144127126	chr8:87516343-87516344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531530973	chr8:87516366-87516367	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192904172	chr8:87516374-87516375	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534652013	chr8:87516469-87516470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112008020	chr8:87516482-87516483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553232863	chr8:87516484-87516485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547524586	chr8:87516502-87516503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570469370	chr8:87516566-87516567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539502222	chr8:87516630-87516631	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184313523	chr8:87516662-87516663	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147298676	chr8:87516682-87516683	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369669024	chr8:87516746-87516747	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538577439	chr8:87516747-87516748	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555308342	chr8:87516757-87516758	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575137626	chr8:87516769-87516770	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373550802	chr8:87516773-87516774	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140960514	chr8:87516806-87516807	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188698085	chr8:87516807-87516808	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546259030	chr8:87516822-87516823	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs191611163	chr8:87516858-87516859	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540056414	chr8:87516880-87516881	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183730990	chr8:87516891-87516892	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541781683	chr8:87516935-87516936	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs112155588	chr8:87516944-87516945	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561652526	chr8:87516976-87516977	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189269760	chr8:87516997-87516998	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144831717	chr8:87516998-87516999	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564283633	chr8:87517016-87517017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370201632	chr8:87517020-87517021	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536814275	chr8:87517021-87517022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549836276	chr8:87517035-87517036	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569725033	chr8:87517054-87517055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535444214	chr8:87517094-87517095	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs548970122	chr8:87517105-87517106	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs558716759	chr8:87517133-87517134	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs145736418	chr8:87517162-87517163	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554101801	chr8:87517167-87517168	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Acute lymphoblastic leukemia	22237106	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
Autism	20841430	CNVD
Breast cancer	21364760	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
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
2	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
4	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
5	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:87497000-87516600	Weak transcription	Right Ventricle	heart
7	chr8:87498200-87517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:87498400-87517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:87498400-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:87506600-87520000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:87508000-87516600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:87508000-87516600	Weak transcription	NH-A	brain
13	chr8:87508000-87520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:87508200-87517000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:87508200-87520000	Weak transcription	Stomach Mucosa	stomach
16	chr8:87508600-87516400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:87508600-87517400	Weak transcription	Fetal Heart	heart
18	chr8:87508800-87516200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:87508800-87516600	Weak transcription	NHDF-Ad	bronchial
20	chr8:87509000-87516200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:87509200-87519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:87509400-87516200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:87509400-87516200	Weak transcription	HSMMtube	muscle
24	chr8:87509400-87519400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:87509600-87516600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:87511000-87516400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:87511000-87520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:87511200-87516200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:87511400-87516600	Weak transcription	Left Ventricle	heart
30	chr8:87511800-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:87512000-87519000	Strong transcription	Primary B cells from cord blood	blood
32	chr8:87512600-87516400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:87513000-87519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:87513200-87517800	Strong transcription	Fetal Stomach	stomach
35	chr8:87513200-87519000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:87513200-87519000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:87513400-87520000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:87513800-87516400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:87513800-87519200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:87514200-87517400	Strong transcription	Fetal Brain Female	brain
41	chr8:87514400-87519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:87514400-87519000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:87514400-87519200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:87514600-87518800	Strong transcription	Fetal Lung	lung
45	chr8:87514600-87519000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:87514600-87519000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:87514600-87519200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:87514600-87519400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:87514600-87520200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:87514800-87519200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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