Variant report

Variant	nsv6292
Chromosome Location	chr8:88920735-88965372
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:88920526..88922311-chr8:88925115..88926677,2	MCF-7	breast:
2	chr6:26054042..26056771-chr8:88944821..88947355,2	MCF-7	breast:
3	chr8:88935295..88937297-chr8:88938050..88940246,2	MCF-7	breast:
4	chr8:88935295..88937297-chr8:88938050..88940246,2	MCF-7	breast:
5	chr8:88910926..88912766-chr8:88929269..88932098,2	MCF-7	breast:
6	chr8:88953944..88956078-chr8:88958944..88960542,2	MCF-7	breast:
7	chr8:88949151..88949863-chr8:89301696..89302485,3	MCF-7	breast:
8	chr15:60665318..60666003-chr8:88927260..88927765,2	MCF-7	breast:
9	chr8:88945613..88947133-chr8:88952245..88954960,2	K562	blood:
10	chr8:88934395..88939175-chr8:88941122..88944272,4	K562	blood:
11	chr8:88953944..88956078-chr8:88958944..88960542,2	MCF-7	breast:
12	chr8:88934395..88939175-chr8:88941122..88944272,4	K562	blood:
13	chr4:41217262..41220016-chr8:88924043..88926117,2	MCF-7	breast:
14	chr8:88945613..88947133-chr8:88952245..88954960,2	K562	blood:
15	chr8:88920526..88922311-chr8:88925115..88926677,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF4L2-1	chr8:88937964-88938285	XLOC_007145
2	lnc-DCAF4L2-1	chr8:88938374-88938489	XLOC_007145

No data

Variant related genes	Relation type
ENSG00000163697	chromatin interactions
ENSG00000187837	chromatin interactions

Extended variants
information (count: 1139 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528162547	chr8:88920785-88920786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35965687	chr8:88920802-88920803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558473292	chr8:88920820-88920821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142116392	chr8:88920867-88920868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116437649	chr8:88920896-88920897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115817641	chr8:88920899-88920900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60539728	chr8:88920905-88920906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116265025	chr8:88920978-88920979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150737766	chr8:88920993-88920994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563334077	chr8:88921042-88921043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531156426	chr8:88921067-88921068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36124759	chr8:88921124-88921125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552406904	chr8:88921128-88921129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115690135	chr8:88921155-88921156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191311149	chr8:88921181-88921182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547198829	chr8:88921246-88921247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533140309	chr8:88921305-88921306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565798339	chr8:88921355-88921356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536341968	chr8:88921395-88921396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548251935	chr8:88921501-88921502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376771948	chr8:88921516-88921517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569620587	chr8:88921518-88921519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537348872	chr8:88921526-88921527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558781950	chr8:88921528-88921529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144003936	chr8:88921545-88921546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534844863	chr8:88921546-88921547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552874519	chr8:88921550-88921551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574633916	chr8:88921591-88921592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551629647	chr8:88921608-88921609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541918480	chr8:88921649-88921650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547690960	chr8:88921676-88921677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369454957	chr8:88921709-88921710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146422385	chr8:88921752-88921753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546197694	chr8:88921754-88921755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183511624	chr8:88921766-88921767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566215614	chr8:88921806-88921807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564775556	chr8:88921858-88921859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188455843	chr8:88921930-88921931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547210930	chr8:88921931-88921932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193206464	chr8:88921950-88921951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114752618	chr8:88921995-88921996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536443963	chr8:88922024-88922025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376417480	chr8:88922029-88922030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115220067	chr8:88922032-88922033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140739696	chr8:88922041-88922042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538182558	chr8:88922043-88922044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551864733	chr8:88922069-88922070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569996514	chr8:88922155-88922156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144462795	chr8:88922162-88922163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537075251	chr8:88922234-88922235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88918000-88926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:88919200-88923000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:88920400-88923800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:88922200-88922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:88922600-88922800	Enhancers	Aorta	Aorta
6	chr8:88922800-88924600	Weak transcription	Aorta	Aorta
7	chr8:88923000-88924200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:88923600-88925000	Enhancers	Fetal Brain Male	brain
9	chr8:88923800-88924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:88924600-88924800	Enhancers	Aorta	Aorta
11	chr8:88924600-88924800	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:88924800-88925200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:88924800-88926200	Weak transcription	Aorta	Aorta
14	chr8:88924800-88926600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:88925000-88927400	Weak transcription	Fetal Brain Male	brain
16	chr8:88925200-88926000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:88925600-88926000	Enhancers	Osteobl	bone
18	chr8:88925800-88926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:88926000-88926400	Flanking Active TSS	Osteobl	bone
20	chr8:88926000-88926600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:88926000-88926600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:88926200-88927000	Enhancers	Aorta	Aorta
23	chr8:88926400-88927800	Enhancers	Osteobl	bone
24	chr8:88926600-88926800	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:88926600-88927200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:88926600-88927600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:88926600-88928000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:88926600-88928800	Enhancers	Fetal Brain Female	brain
29	chr8:88926600-88931400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:88926800-88927600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:88926800-88931200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:88927000-88928000	Weak transcription	Aorta	Aorta
33	chr8:88927000-88931000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:88927200-88928400	Enhancers	Brain Hippocampus Middle	brain
35	chr8:88927200-88929200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:88927400-88928600	Enhancers	Fetal Brain Male	brain
37	chr8:88927400-88929000	Enhancers	Colon Smooth Muscle	Colon
38	chr8:88927600-88928200	Enhancers	Fetal Lung	lung
39	chr8:88927600-88929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:88927600-88930800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:88927600-88932000	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:88927800-88928800	Enhancers	Brain Germinal Matrix	brain
43	chr8:88927800-88928800	Weak transcription	Osteobl	bone
44	chr8:88928000-88928200	Enhancers	Aorta	Aorta
45	chr8:88928000-88928200	Enhancers	Brain Anterior Caudate	brain
46	chr8:88928000-88928200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr8:88928000-88928600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:88928000-88928800	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:88928000-88928800	Enhancers	Fetal Kidney	kidney
50	chr8:88928000-88930000	Enhancers	Primary B cells from cord blood	blood

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