Variant report

Variant	nsv524876
Chromosome Location	chr8:96000919-96027306
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:58)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:96003596..96006283-chr8:96009467..96011919,2	MCF-7	breast:
2	chr8:96021154..96024035-chr8:96026303..96030842,4	MCF-7	breast:
3	chr8:96005382..96007060-chr8:96007312..96008857,2	K562	blood:
4	chr8:96026673..96028534-chr8:96030617..96033209,2	K562	blood:
5	chr8:96007661..96009980-chr8:96021483..96023958,2	MCF-7	breast:
6	chr8:96010656..96013460-chr8:96013847..96015745,3	K562	blood:
7	chr8:96017089..96018665-chr8:96022753..96024345,2	MCF-7	breast:
8	chr8:95959267..95964036-chr8:96000948..96003390,4	MCF-7	breast:
9	chr8:96000999..96003258-chr8:96004630..96006876,2	MCF-7	breast:
10	chr8:95966010..95969504-chr8:96000231..96003334,3	MCF-7	breast:
11	chr8:95998963..96001168-chr8:96001657..96004016,2	MCF-7	breast:
12	chr8:96022721..96025517-chr8:96026848..96029515,2	MCF-7	breast:
13	chr8:95959737..95963607-chr8:96003681..96007854,5	MCF-7	breast:
14	chr8:96000999..96003258-chr8:96004630..96006876,2	MCF-7	breast:
15	chr8:95985327..95987804-chr8:95999434..96002378,2	K562	blood:
16	chr8:96003819..96005912-chr8:96011245..96014094,2	K562	blood:
17	chr8:96015022..96016976-chr8:96279683..96281984,2	MCF-7	breast:
18	chr8:95993613..95996524-chr8:95999863..96001470,2	K562	blood:
19	chr8:95961919..95963671-chr8:96025569..96028274,3	MCF-7	breast:
20	chr8:96014207..96016501-chr8:96023087..96024953,2	MCF-7	breast:
21	chr8:95959655..95961605-chr8:96007143..96009937,2	MCF-7	breast:
22	chr8:96017089..96018665-chr8:96022753..96024345,2	MCF-7	breast:
23	chr8:95998963..96001168-chr8:96001657..96004016,2	MCF-7	breast:
24	chr8:96026583..96028152-chr8:96035447..96037415,2	MCF-7	breast:
25	chr8:96021154..96024035-chr8:96026303..96030842,4	MCF-7	breast:
26	chr8:96000256..96002334-chr8:96021796..96023746,2	MCF-7	breast:
27	chr8:96022721..96025517-chr8:96026848..96029515,2	MCF-7	breast:
28	chr8:95905943..95909813-chr8:96003263..96006673,5	MCF-7	breast:
29	chr8:95999262..96000977-chr8:96027577..96029691,2	K562	blood:
30	chr8:96003596..96006283-chr8:96009467..96011919,2	MCF-7	breast:
31	chr8:96010656..96013460-chr8:96013847..96015745,3	K562	blood:
32	chr8:95999822..96002067-chr8:96113841..96115533,2	MCF-7	breast:
33	chr8:96005906..96008849-chr8:96012079..96013739,2	MCF-7	breast:
34	chr8:95959538..95963295-chr8:96025714..96028383,5	MCF-7	breast:
35	chr8:95959850..95964856-chr8:96001883..96005786,9	MCF-7	breast:
36	chr8:96025997..96028447-chr8:96030122..96031980,2	MCF-7	breast:
37	chr8:96022490..96024943-chr8:96031523..96033508,2	MCF-7	breast:
38	chr8:95955999..95958092-chr8:96009407..96011189,2	MCF-7	breast:
39	chr8:95986378..95988844-chr8:96003281..96005168,2	MCF-7	breast:
40	chr8:96005382..96007060-chr8:96007312..96008857,2	K562	blood:
41	chr8:96005165..96007077-chr8:96009833..96012544,2	K562	blood:
42	chr8:96019115..96020705-chr8:96036966..96039479,2	K562	blood:
43	chr8:95981154..95983317-chr8:96014549..96016404,2	MCF-7	breast:
44	chr8:96002471..96005226-chr8:96038808..96041557,2	MCF-7	breast:
45	chr8:96007661..96009980-chr8:96021483..96023958,2	MCF-7	breast:
46	chr8:96021786..96023781-chr8:96035295..96037278,3	MCF-7	breast:
47	chr8:95979244..95983291-chr8:95999970..96003553,4	MCF-7	breast:
48	chr8:96000256..96002334-chr8:96021796..96023746,2	MCF-7	breast:
49	chr8:96027034..96028656-chr8:96030290..96032117,2	K562	blood:
50	chr8:95979420..95981585-chr8:96022909..96025497,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS8-5	chr8:96000586-96001576	NONHSAT127815

No data

Variant related genes	Relation type
ENSG00000175305	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000253773	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000164938	chromatin interactions
ENSG00000253528	chromatin interactions

Extended variants
information (count: 948 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:948 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4734295	chr8:96000919-96000920	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149351485	chr8:96000932-96000933	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs539409416	chr8:96000993-96000994	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs115636736	chr8:96001013-96001014	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs532839311	chr8:96001015-96001016	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs567127002	chr8:96001073-96001074	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs187308313	chr8:96001075-96001076	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs555913244	chr8:96001086-96001087	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs114082789	chr8:96001096-96001097	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs144663092	chr8:96001129-96001130	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs138335456	chr8:96001195-96001196	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs112772430	chr8:96001215-96001216	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs531335284	chr8:96001388-96001389	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs545766868	chr8:96001392-96001393	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs559407048	chr8:96001403-96001404	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs60627299	chr8:96001461-96001462	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs367745566	chr8:96001553-96001554	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs13439011	chr8:96001575-96001576	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561919173	chr8:96001594-96001595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548386975	chr8:96001599-96001600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs551356958	chr8:96001607-96001608	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs530953629	chr8:96001680-96001681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370693353	chr8:96001714-96001715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs191711590	chr8:96001796-96001797	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs533177876	chr8:96001801-96001802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546555850	chr8:96001808-96001809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs182949288	chr8:96001838-96001839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs187485607	chr8:96001840-96001841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs140127033	chr8:96001907-96001908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569422782	chr8:96001936-96001937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs538399806	chr8:96001938-96001939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs533936316	chr8:96001965-96001966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs193263243	chr8:96001972-96001973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs185382733	chr8:96001973-96001974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs114735089	chr8:96001988-96001989	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs573104509	chr8:96002025-96002026	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs542100866	chr8:96002105-96002106	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs605527	chr8:96002158-96002159	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368636672	chr8:96002160-96002161	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs575102632	chr8:96002163-96002164	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs118149297	chr8:96002169-96002170	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs77907133	chr8:96002192-96002193	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs369518889	chr8:96002197-96002198	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs77242481	chr8:96002200-96002201	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs150906595	chr8:96002236-96002237	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs560536163	chr8:96002241-96002242	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs117440460	chr8:96002243-96002244	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs549660473	chr8:96002249-96002250	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs139396910	chr8:96002296-96002297	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs187752217	chr8:96002304-96002305	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:95974400-96002000	Weak transcription	Esophagus	oesophagus
3	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
4	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:95981000-96003000	Weak transcription	Fetal Lung	lung
6	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
7	chr8:95987000-96019600	Weak transcription	Lung	lung
8	chr8:95987200-96003000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95988000-96002400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:95988000-96004800	Weak transcription	HMEC	breast
12	chr8:95990200-96002200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:95992800-96002400	Weak transcription	Psoas Muscle	Psoas
14	chr8:95992800-96002800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:95992800-96003000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:95993600-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
18	chr8:95997200-96002400	Weak transcription	Dnd41	blood
19	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
20	chr8:95997600-96004200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:95997600-96009000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
23	chr8:95997800-96001200	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:95998400-96001000	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:95998400-96001200	Enhancers	Fetal Heart	heart
26	chr8:95998600-96001000	Enhancers	Primary B cells from cord blood	blood
27	chr8:95998600-96001800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:95998800-96001000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95998800-96003000	Weak transcription	Fetal Thymus	thymus
30	chr8:95999000-96001200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:95999000-96003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:95999200-96003200	Enhancers	NHDF-Ad	bronchial
33	chr8:95999400-96001000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:95999400-96001000	Enhancers	Ovary	ovary
35	chr8:95999400-96001200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:95999400-96002000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:95999600-96001000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:95999600-96001000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:95999600-96001000	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:95999600-96001000	Flanking Active TSS	K562	blood
41	chr8:95999600-96001200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:95999600-96001200	Enhancers	Liver	Liver
43	chr8:95999800-96001000	Enhancers	HUVEC	blood vessel
44	chr8:95999800-96001200	Enhancers	Brain Anterior Caudate	brain
45	chr8:95999800-96001200	Enhancers	A549	lung
46	chr8:95999800-96002600	Weak transcription	Fetal Stomach	stomach
47	chr8:96000000-96001000	Weak transcription	Right Ventricle	heart
48	chr8:96000000-96002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:96000000-96008800	Weak transcription	Spleen	Spleen
50	chr8:96000200-96002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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