Variant report

Variant	nsv526686
Chromosome Location	chr8:130808973-130839132
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130812388..130815875-chr8:130817210..130819491,3	MCF-7	breast:
2	chr8:130830602..130833613-chr8:131027054..131030013,3	K562	blood:
3	chr8:130832873..130834634-chr8:130872875..130874898,2	K562	blood:
4	chr8:130831390..130833613-chr8:131027128..131030013,2	K562	blood:
5	chr8:130830092..130833014-chr8:130837793..130842091,3	K562	blood:
6	chr8:130830092..130833014-chr8:130837793..130842091,3	K562	blood:
7	chr8:130838362..130839036-chr8:130903623..130904767,5	MCF-7	breast:
8	chr8:130838375..130838938-chr8:130903507..130904182,2	MCF-7	breast:
9	chr8:130838576..130840911-chr8:130898985..130901514,2	K562	blood:
10	chr8:130760414..130761002-chr8:130838183..130839066,2	MCF-7	breast:
11	chr8:130812388..130815875-chr8:130817210..130819491,3	MCF-7	breast:
12	chr7:132179184..132180204-chr8:130838562..130839258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153310	chromatin interactions

Extended variants
information (count: 1190 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7823788	chr8:130808973-130808974	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561873737	chr8:130808998-130808999	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373023637	chr8:130809088-130809089	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529052215	chr8:130809103-130809104	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547735692	chr8:130809155-130809156	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113383458	chr8:130809172-130809173	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539096034	chr8:130809174-130809175	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551333535	chr8:130809177-130809178	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201082246	chr8:130809188-130809189	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367946520	chr8:130809205-130809206	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573240573	chr8:130809245-130809246	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537137997	chr8:130809345-130809346	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560272751	chr8:130809346-130809347	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73406841	chr8:130809364-130809365	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542264620	chr8:130809394-130809395	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371091097	chr8:130809413-130809414	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534858428	chr8:130809438-130809439	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527785149	chr8:130809445-130809446	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552438894	chr8:130809446-130809447	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28863022	chr8:130809464-130809465	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531636013	chr8:130809480-130809481	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190748893	chr8:130809494-130809495	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76902279	chr8:130809496-130809497	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575508680	chr8:130809506-130809507	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543147439	chr8:130809527-130809528	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561339938	chr8:130809533-130809534	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550121403	chr8:130809534-130809535	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2086640	chr8:130809596-130809597	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541210781	chr8:130809599-130809600	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372663367	chr8:130809608-130809609	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559711122	chr8:130809612-130809613	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533250138	chr8:130809635-130809636	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551128892	chr8:130809654-130809655	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2086639	chr8:130809688-130809689	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1119600	chr8:130809744-130809745	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181946924	chr8:130809819-130809820	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2101163	chr8:130809837-130809838	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566717900	chr8:130809874-130809875	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7008330	chr8:130809891-130809892	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553149827	chr8:130809894-130809895	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185984751	chr8:130809898-130809899	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190905775	chr8:130809903-130809904	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557325489	chr8:130809905-130809906	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1988911	chr8:130809913-130809914	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183236117	chr8:130810004-130810005	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555134631	chr8:130810006-130810007	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573351741	chr8:130810051-130810052	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188162579	chr8:130810068-130810069	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190251756	chr8:130810113-130810114	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142467501	chr8:130810130-130810131	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130801000-130809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130801800-130809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130808400-130809800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130808400-130811200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:130809200-130810000	Enhancers	NHEK	skin
6	chr8:130809400-130809800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130809400-130810000	Enhancers	HMEC	breast
8	chr8:130809400-130810200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130809600-130809800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:130809800-130810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:130810000-130811200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:130810200-130811400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:130810400-130811200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130810600-130811200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:130810800-130811600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr8:130811200-130812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:130811200-130812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:130811400-130812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:130811600-130815200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:130812000-130812400	Enhancers	NHEK	skin
21	chr8:130812000-130812800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:130812000-130812800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:130812200-130813600	Enhancers	Esophagus	oesophagus
24	chr8:130812200-130813800	Enhancers	HMEC	breast
25	chr8:130812200-130814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:130812400-130813600	Flanking Active TSS	NHEK	skin
27	chr8:130812600-130813800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:130812600-130814200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:130812600-130814400	Enhancers	Adipose Nuclei	Adipose
30	chr8:130812800-130813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:130812800-130813200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:130812800-130813400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:130813000-130813800	Enhancers	Right Atrium	heart
34	chr8:130813200-130813600	Enhancers	Left Ventricle	heart
35	chr8:130813200-130813800	Enhancers	Right Ventricle	heart
36	chr8:130813200-130814200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:130813400-130814600	Enhancers	Fetal Heart	heart
38	chr8:130813400-130816000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:130813600-130814600	Enhancers	NHEK	skin
40	chr8:130813600-130814800	Weak transcription	Left Ventricle	heart
41	chr8:130813600-130815200	Weak transcription	Esophagus	oesophagus
42	chr8:130813800-130814200	Enhancers	Colon Smooth Muscle	Colon
43	chr8:130813800-130814800	Weak transcription	Right Atrium	heart
44	chr8:130813800-130814800	Weak transcription	Right Ventricle	heart
45	chr8:130814000-130814200	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:130814200-130815200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:130814200-130815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:130814400-130815200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:130814400-130820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:130814600-130815000	Weak transcription	NHEK	skin

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