Variant report

Variant	nsv522226
Chromosome Location	chr8:10628947-10635317
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10634439..10636776-chr8:10637920..10639941,2	K562	blood:
2	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
3	chr8:10616130..10621063-chr8:10631004..10634975,5	K562	blood:
4	chr8:10622933..10625831-chr8:10627358..10629898,3	K562	blood:
5	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
6	chr8:10621941..10624619-chr8:10627842..10631333,3	K562	blood:
7	chr8:10633410..10636281-chr8:10695946..10698229,2	K562	blood:
8	chr8:10631743..10634256-chr8:10658449..10660185,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254093	chromatin interactions
ENSG00000258724	chromatin interactions
ENSG00000253695	chromatin interactions

Extended variants
information (count: 358 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:358 , 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	rs6601521	chr8:10628947-10628948	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568194797	chr8:10628950-10628951	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547430430	chr8:10628961-10628962	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533874690	chr8:10628980-10628981	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112876990	chr8:10629039-10629040	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6601522	chr8:10629061-10629062	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs117512309	chr8:10629102-10629103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545385435	chr8:10629134-10629135	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558793391	chr8:10629144-10629145	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147555432	chr8:10629145-10629146	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544434607	chr8:10629178-10629179	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561133208	chr8:10629185-10629186	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141963775	chr8:10629260-10629261	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540718562	chr8:10629290-10629291	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560290940	chr8:10629292-10629293	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549739221	chr8:10629293-10629294	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576908754	chr8:10629295-10629296	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374224550	chr8:10629315-10629316	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143058515	chr8:10629325-10629326	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73200742	chr8:10629356-10629357	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569203120	chr8:10629357-10629358	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17152360	chr8:10629362-10629363	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531620946	chr8:10629372-10629373	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116952775	chr8:10629403-10629404	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73662622	chr8:10629429-10629430	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533650992	chr8:10629468-10629469	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141257260	chr8:10629497-10629498	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570365976	chr8:10629523-10629524	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180676391	chr8:10629528-10629529	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555719717	chr8:10629540-10629541	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575570347	chr8:10629552-10629553	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188887183	chr8:10629564-10629565	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554789323	chr8:10629582-10629583	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373231222	chr8:10629585-10629586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574929687	chr8:10629604-10629605	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73544366	chr8:10629613-10629614	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150357289	chr8:10629660-10629661	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532476943	chr8:10629671-10629672	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541966032	chr8:10629674-10629675	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138078364	chr8:10629675-10629676	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192088618	chr8:10629716-10629717	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531682075	chr8:10629720-10629721	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548454809	chr8:10629728-10629729	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561740427	chr8:10629780-10629781	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184036295	chr8:10629840-10629841	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4240668	chr8:10629878-10629879	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547198847	chr8:10629880-10629881	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570557784	chr8:10629898-10629899	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539134138	chr8:10629922-10629923	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4240669	chr8:10629987-10629988	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:138)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10618000-10634400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10618600-10634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:10618800-10634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:10618800-10634400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:10618800-10636400	Weak transcription	Psoas Muscle	Psoas
8	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
10	chr8:10619000-10636400	Weak transcription	HSMM	muscle
11	chr8:10619200-10634200	Weak transcription	Ovary	ovary
12	chr8:10619200-10634400	Weak transcription	HSMMtube	muscle
13	chr8:10619200-10635800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
15	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:10619800-10629000	Weak transcription	GM12878-XiMat	blood
18	chr8:10620000-10629800	Strong transcription	Primary T cells from cord blood	blood
19	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:10620200-10645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:10620400-10634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:10620600-10630800	Weak transcription	HUVEC	blood vessel
23	chr8:10621200-10634400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:10621400-10634400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:10621400-10656000	Weak transcription	HepG2	liver
27	chr8:10621600-10634000	Weak transcription	NHEK	skin
28	chr8:10622000-10639000	Weak transcription	HMEC	breast
29	chr8:10622400-10634000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:10622800-10634200	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:10622800-10634200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:10622800-10641000	Weak transcription	Hela-S3	cervix
33	chr8:10622800-10656000	Weak transcription	A549	lung
34	chr8:10623000-10634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:10623000-10634200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:10623200-10634200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:10623200-10634200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:10623200-10634200	Weak transcription	Placenta	Placenta
39	chr8:10623200-10634600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:10623400-10630800	Weak transcription	Left Ventricle	heart
42	chr8:10623400-10633200	Weak transcription	Liver	Liver
43	chr8:10623400-10633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:10623400-10633400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:10623400-10634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:10623400-10634200	Weak transcription	Adipose Nuclei	Adipose
47	chr8:10623400-10634200	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:10623400-10646400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus

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