Variant report

Variant	nsv891250
Chromosome Location	chr8:105023672-105125672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
2	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
3	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
4	chr5:134061778..134062420-chr8:105118451..105119152,2	MCF-7	breast:
5	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
6	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:

Extended variants
information (count: 2441 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2441 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12678653	chr8:105023672-105023673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557767475	chr8:105023678-105023679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576120593	chr8:105023709-105023710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543558739	chr8:105023725-105023726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112738306	chr8:105023731-105023732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12674589	chr8:105023806-105023807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186032834	chr8:105023861-105023862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114451003	chr8:105023872-105023873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545752428	chr8:105023880-105023881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559973900	chr8:105023887-105023888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565593910	chr8:105024040-105024041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546906828	chr8:105024042-105024043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149173590	chr8:105024091-105024092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78418706	chr8:105024142-105024143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538397358	chr8:105024159-105024160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142320134	chr8:105024160-105024161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150988952	chr8:105024171-105024172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140969670	chr8:105024186-105024187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541617348	chr8:105024218-105024219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112736579	chr8:105024255-105024256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567312929	chr8:105024292-105024293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62527146	chr8:105024337-105024338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190743948	chr8:105024377-105024378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73699052	chr8:105024381-105024382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538589331	chr8:105024437-105024438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568972143	chr8:105024521-105024522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138785276	chr8:105024529-105024530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576032470	chr8:105024536-105024537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537108446	chr8:105024563-105024564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555851756	chr8:105024569-105024570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76948265	chr8:105024582-105024583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530257380	chr8:105024583-105024584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79010263	chr8:105024589-105024590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574078071	chr8:105024592-105024593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56206546	chr8:105024596-105024597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147427640	chr8:105024654-105024655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56086734	chr8:105024720-105024721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559736890	chr8:105024744-105024745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181666147	chr8:105024773-105024774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578248678	chr8:105024777-105024778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150306629	chr8:105024847-105024848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563232060	chr8:105024944-105024945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530533626	chr8:105024955-105024956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59900294	chr8:105025030-105025031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137884650	chr8:105025077-105025078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531486207	chr8:105025115-105025116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59358264	chr8:105025122-105025123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72683142	chr8:105025138-105025139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571399622	chr8:105025148-105025149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4132896	chr8:105025166-105025167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105002400-105025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105019200-105040400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:105021800-105025200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:105022000-105024200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:105022800-105042400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:105023400-105025200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:105024400-105041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:105025000-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:105025600-105025800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:105025600-105028400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:105027200-105028600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:105028400-105047000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:105028600-105038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:105030200-105030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:105030600-105031800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:105031800-105035000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:105033600-105039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:105035000-105039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:105036000-105036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:105036800-105038600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:105037400-105037600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:105037600-105038400	Enhancers	HMEC	breast
23	chr8:105037600-105039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:105037600-105039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:105037800-105039800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:105037800-105040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:105038200-105040400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:105038400-105038800	Weak transcription	HMEC	breast
29	chr8:105038400-105040000	Enhancers	NHEK	skin
30	chr8:105038600-105039200	Enhancers	NHDF-Ad	bronchial
31	chr8:105038600-105039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:105038600-105039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:105038600-105040000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:105038800-105040000	Enhancers	HMEC	breast
35	chr8:105039000-105040200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:105039000-105042400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:105039000-105042400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:105039200-105041600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:105039400-105040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:105039400-105040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:105039600-105040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:105039600-105040400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:105039800-105041000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:105040000-105040200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:105040000-105041000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:105040000-105044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:105040000-105044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:105040200-105040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:105040200-105041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:105040400-105041000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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