Variant report

Variant	nsv891217
Chromosome Location	chr8:99346537-99391285
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:81)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:99375676..99377993-chr8:99381556..99384314,2	MCF-7	breast:
2	chr8:99318271..99319945-chr8:99351260..99353325,2	MCF-7	breast:
3	chr8:99384061..99386521-chr8:99386838..99388366,2	MCF-7	breast:
4	chr8:99326594..99329516-chr8:99368233..99370139,2	MCF-7	breast:
5	chr8:99370425..99370942-chr8:99483139..99483956,2	K562	blood:
6	chr8:99182184..99183318-chr8:99389877..99390743,4	MCF-7	breast:
7	chr8:99348991..99351548-chr8:99381372..99383684,2	MCF-7	breast:
8	chr8:99379179..99380825-chr8:99393118..99395481,2	K562	blood:
9	chr8:99371126..99375307-chr8:99376656..99381075,4	K562	blood:
10	chr8:99366377..99369358-chr8:99398714..99400480,2	MCF-7	breast:
11	chr8:99304773..99308410-chr8:99356303..99359323,3	MCF-7	breast:
12	chr8:99357983..99360443-chr8:99366615..99368148,2	MCF-7	breast:
13	chr8:99364130..99368810-chr8:99369067..99373271,6	MCF-7	breast:
14	chr8:99176613..99177756-chr8:99370117..99370793,5	MCF-7	breast:
15	chr8:99344129..99347953-chr8:99347984..99350606,4	K562	blood:
16	chr8:99380922..99383073-chr8:99383689..99385987,2	MCF-7	breast:
17	chr8:99363750..99366423-chr8:99367673..99369509,2	MCF-7	breast:
18	chr8:99321286..99323579-chr8:99343349..99347132,3	MCF-7	breast:
19	chr8:99380922..99383073-chr8:99383689..99385987,2	MCF-7	breast:
20	chr8:99347365..99349416-chr8:99356232..99359153,2	K562	blood:
21	chr8:99357983..99360443-chr8:99366615..99368148,2	MCF-7	breast:
22	chr8:99340871..99341482-chr8:99370235..99370905,2	MCF-7	breast:
23	chr8:99389611..99391541-chr8:99393502..99396031,2	K562	blood:
24	chr8:99344297..99345235-chr8:99357703..99358227,2	MCF-7	breast:
25	chr8:99354049..99356109-chr8:99374598..99376859,2	MCF-7	breast:
26	chr8:99389616..99393006-chr8:99411002..99413447,3	MCF-7	breast:
27	chr5:31736992..31739495-chr8:99347589..99350230,2	MCF-7	breast:
28	chr8:99348334..99350137-chr8:99356726..99359108,2	MCF-7	breast:
29	chr8:99384243..99386318-chr8:99397531..99400408,2	K562	blood:
30	chr8:99384471..99385031-chr8:99482985..99483963,2	MCF-7	breast:
31	chr8:99389992..99391983-chr8:99403729..99405562,2	MCF-7	breast:
32	chr8:99348991..99351548-chr8:99381372..99383684,2	MCF-7	breast:
33	chr8:99373069..99375307-chr8:99379575..99381805,2	K562	blood:
34	chr8:99377803..99379951-chr8:99386336..99389096,2	K562	blood:
35	chr8:99182291..99182886-chr8:99370098..99370931,3	MCF-7	breast:
36	chr8:99356606..99360601-chr8:99368413..99371833,4	MCF-7	breast:
37	chr8:99364130..99368810-chr8:99369067..99373271,6	MCF-7	breast:
38	chr8:99308262..99310290-chr8:99370211..99371951,2	MCF-7	breast:
39	chr8:99182696..99185342-chr8:99345082..99347110,3	MCF-7	breast:
40	chr8:99344129..99347953-chr8:99347984..99350606,4	K562	blood:
41	chr1:234745047..234747067-chr8:99344812..99347699,2	MCF-7	breast:
42	chr8:99348334..99350137-chr8:99356726..99359108,2	MCF-7	breast:
43	chr8:99356606..99360601-chr8:99368413..99371833,4	MCF-7	breast:
44	chr8:99344736..99347953-chr8:99348247..99350606,3	K562	blood:
45	chr8:99363750..99366423-chr8:99367673..99369509,2	MCF-7	breast:
46	chr8:99304426..99306642-chr8:99371126..99373408,3	MCF-7	breast:
47	chr8:99351707..99353474-chr8:99355817..99358709,2	MCF-7	breast:
48	chr8:99377803..99379951-chr8:99386336..99389096,2	K562	blood:
49	chr8:99341826..99344018-chr8:99347525..99349610,2	K562	blood:
50	chr8:99344736..99347953-chr8:99348247..99350606,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STK3-1	chr8:99374348-99374358	XLOC_007169
2	lnc-STK3-1	chr8:99383583-99383906	ENSG00000254267

No data

Variant related genes	Relation type
ENSG00000168264	chromatin interactions
ENSG00000249114	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000254267	chromatin interactions

Extended variants
information (count: 1731 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1731 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4735554	chr8:99346537-99346538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544302374	chr8:99346553-99346554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556267413	chr8:99346556-99346557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563976693	chr8:99346559-99346560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75552210	chr8:99346575-99346576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376436883	chr8:99346583-99346584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546609440	chr8:99346595-99346596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181811623	chr8:99346621-99346622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551674715	chr8:99346623-99346624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140499703	chr8:99346625-99346626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548973871	chr8:99346651-99346652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186800877	chr8:99346669-99346670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs117745487	chr8:99346678-99346679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551101629	chr8:99346685-99346686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570605251	chr8:99346758-99346759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539485162	chr8:99346762-99346763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552929244	chr8:99346774-99346775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370954064	chr8:99346790-99346791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs59622499	chr8:99346805-99346806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189151912	chr8:99346848-99346849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567139810	chr8:99346867-99346868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113515617	chr8:99346881-99346882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575796143	chr8:99346925-99346926	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142779152	chr8:99346938-99346939	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147407146	chr8:99346964-99346965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557874595	chr8:99346977-99346978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181959792	chr8:99346980-99346981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540258766	chr8:99346984-99346985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111820299	chr8:99347023-99347024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560211586	chr8:99347028-99347029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528855223	chr8:99347029-99347030	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542911894	chr8:99347109-99347110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184954528	chr8:99347136-99347137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367661234	chr8:99347158-99347159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576334234	chr8:99347170-99347171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536069992	chr8:99347199-99347200	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551273991	chr8:99347221-99347222	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555960126	chr8:99347222-99347223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113816636	chr8:99347241-99347242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75601967	chr8:99347298-99347299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546656132	chr8:99347316-99347317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566534904	chr8:99347389-99347390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189644072	chr8:99347421-99347422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139941364	chr8:99347435-99347436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569437904	chr8:99347464-99347465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145230688	chr8:99347465-99347466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537193112	chr8:99347500-99347501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs556743178	chr8:99347517-99347518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113373492	chr8:99347520-99347521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs578196091	chr8:99347552-99347553	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
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
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99339200-99348000	Weak transcription	HSMMtube	muscle
2	chr8:99341000-99348200	Weak transcription	HSMM	muscle
3	chr8:99341800-99349200	Weak transcription	NHLF	lung
4	chr8:99344400-99347600	Enhancers	Osteobl	bone
5	chr8:99344400-99354200	Enhancers	NHDF-Ad	bronchial
6	chr8:99345000-99347400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:99345200-99347600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:99345200-99348800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:99345200-99349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:99345200-99350200	Weak transcription	Adipose Nuclei	Adipose
11	chr8:99345400-99348600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:99345600-99349200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:99346000-99347400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:99346000-99347400	Enhancers	Lung	lung
15	chr8:99346400-99347400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:99347400-99348200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:99347400-99348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:99347400-99349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:99347600-99348400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:99347600-99348600	Weak transcription	Osteobl	bone
21	chr8:99348000-99351000	Enhancers	HSMMtube	muscle
22	chr8:99348200-99351000	Enhancers	HSMM	muscle
23	chr8:99348200-99354600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:99348400-99352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:99348600-99350600	Weak transcription	Ovary	ovary
26	chr8:99348600-99351000	Enhancers	Osteobl	bone
27	chr8:99348600-99351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:99348600-99355200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99348800-99351400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:99348800-99352000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:99349000-99350400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:99349000-99351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:99349200-99351000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:99349200-99351800	Enhancers	NHLF	lung
35	chr8:99349600-99350800	Enhancers	Right Atrium	heart
36	chr8:99349600-99351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:99349800-99350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:99350000-99350400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:99350200-99350800	Enhancers	Adipose Nuclei	Adipose
40	chr8:99350200-99350800	Enhancers	NH-A	brain
41	chr8:99350400-99350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:99350400-99350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:99350400-99350800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:99350400-99350800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:99350400-99351200	Enhancers	HMEC	breast
46	chr8:99350600-99350800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:99350600-99350800	Enhancers	Ovary	ovary
48	chr8:99350600-99350800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:99350800-99352800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:99351000-99352800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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