Variant report

Variant	nsv982112
Chromosome Location	chr8:107694955-107697862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107668570..107671221-chr8:107695666..107698146,4	MCF-7	breast:
2	chr8:107670067..107672090-chr8:107697639..107700027,2	MCF-7	breast:
3	chr8:107697168..107698852-chr8:107737587..107739721,2	K562	blood:
4	chr8:107670007..107671645-chr8:107694032..107695827,2	K562	blood:

Variant related genes	Relation type
ENSG00000164830	chromatin interactions
ENSG00000253582	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573568739	chr8:107694957-107694958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11304521	chr8:107695079-107695080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141253359	chr8:107695097-107695098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28921399	chr8:107695109-107695110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111424240	chr8:107695111-107695112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189237429	chr8:107695166-107695167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181549522	chr8:107695170-107695171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532465675	chr8:107695201-107695202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552535213	chr8:107695202-107695203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546604264	chr8:107695208-107695209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548991334	chr8:107695209-107695210	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566227229	chr8:107695220-107695221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569004753	chr8:107695259-107695260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369478325	chr8:107695262-107695263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540092768	chr8:107695313-107695314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565862352	chr8:107695319-107695320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558508628	chr8:107695331-107695332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78868714	chr8:107695339-107695340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368490855	chr8:107695403-107695404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148304649	chr8:107695431-107695432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376229603	chr8:107695438-107695439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537651508	chr8:107695443-107695444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537961089	chr8:107695483-107695484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140427774	chr8:107695484-107695485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555887729	chr8:107695544-107695545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186479044	chr8:107695560-107695561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139409426	chr8:107695610-107695611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78675537	chr8:107695627-107695628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189943629	chr8:107695632-107695633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200865008	chr8:107695648-107695649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534565015	chr8:107695659-107695660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28921400	chr8:107695668-107695669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534474812	chr8:107695699-107695700	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111680355	chr8:107695794-107695795	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28921401	chr8:107695819-107695820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181161779	chr8:107695852-107695853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147021742	chr8:107695907-107695908	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542463176	chr8:107695919-107695920	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560728851	chr8:107695927-107695928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113143911	chr8:107695968-107695969	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528223797	chr8:107695986-107695987	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546395253	chr8:107696001-107696002	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143688162	chr8:107696005-107696006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532014238	chr8:107696034-107696035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574414155	chr8:107696070-107696071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552062153	chr8:107696082-107696083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570402362	chr8:107696099-107696100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs3110429	chr8:107696143-107696144	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147143679	chr8:107696147-107696148	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138631020	chr8:107696154-107696155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107671200-107697200	Weak transcription	HSMM	muscle
2	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
3	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
6	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
8	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
9	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
11	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
12	chr8:107681600-107696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:107682200-107696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
15	chr8:107686000-107697000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:107686000-107709200	Weak transcription	Gastric	stomach
17	chr8:107686200-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:107686400-107695200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:107686400-107695800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:107686400-107696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:107686400-107697400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:107686400-107709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:107686400-107709000	Weak transcription	Esophagus	oesophagus
24	chr8:107686400-107709000	Weak transcription	Spleen	Spleen
25	chr8:107686600-107696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:107686600-107696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:107686600-107697400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:107686600-107709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:107686600-107709000	Weak transcription	Fetal Stomach	stomach
30	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:107686800-107696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:107687000-107696000	Weak transcription	Primary T cells from cord blood	blood
33	chr8:107687000-107696400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:107687200-107695800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:107687200-107696000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:107687200-107697400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:107687200-107697400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:107687200-107707600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:107687200-107709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:107687800-107696400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:107688600-107709200	Weak transcription	Aorta	Aorta
43	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
44	chr8:107688800-107695800	Weak transcription	NHDF-Ad	bronchial
45	chr8:107688800-107696400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:107690000-107696000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:107690400-107696000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:107690400-107709200	Weak transcription	Ovary	ovary
50	chr8:107690600-107696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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