Variant report

Variant	nsv1027768
Chromosome Location	chr6:106813584-106844418
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:106819657..106821574-chr6:106823902..106826523,2	MCF-7	breast:
2	chr6:106831242..106833067-chr6:106837715..106840432,2	K562	blood:
3	chr6:106831242..106833067-chr6:106837715..106840432,2	K562	blood:
4	chr6:106808617..106811340-chr6:106821545..106823616,2	MCF-7	breast:
5	chr6:106842514..106845297-chr6:106886526..106889026,2	MCF-7	breast:
6	chr6:106829670..106831474-chr6:106841458..106844006,2	MCF-7	breast:
7	chr6:106831567..106833173-chr6:106837715..106840535,2	K562	blood:
8	chr6:106819657..106821574-chr6:106823902..106826523,2	MCF-7	breast:
9	chr6:26041847..26044156-chr6:106843655..106845155,2	MCF-7	breast:
10	chr6:106831567..106833173-chr6:106837715..106840535,2	K562	blood:
11	chr17:59651944..59652826-chr6:106843888..106844454,2	MCF-7	breast:
12	chr6:106829670..106831474-chr6:106841458..106844006,2	MCF-7	breast:
13	chr6:106807691..106810089-chr6:106811513..106814878,6	MCF-7	breast:
14	chr6:106810826..106813749-chr6:106814057..106816280,2	MCF-7	breast:
15	chr6:106808965..106810935-chr6:106838431..106840040,2	MCF-7	breast:
16	chr6:106810826..106813749-chr6:106814057..106816280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196226	chromatin interactions

Extended variants
information (count: 1196 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1196 , 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	rs77922139	chr6:106813674-106813675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570392881	chr6:106813701-106813702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368555455	chr6:106813745-106813746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532113538	chr6:106813762-106813763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77735960	chr6:106813769-106813770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7747057	chr6:106813932-106813933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7767309	chr6:106813967-106813968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542041095	chr6:106813995-106813996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140898701	chr6:106814014-106814015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7747478	chr6:106814015-106814016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369304491	chr6:106814054-106814055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541367535	chr6:106814099-106814100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143048349	chr6:106814157-106814158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9384605	chr6:106814248-106814249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543786918	chr6:106814266-106814267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148188781	chr6:106814277-106814278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112014372	chr6:106814345-106814346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200516127	chr6:106814371-106814372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9398080	chr6:106814376-106814377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9373851	chr6:106814379-106814380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568218576	chr6:106814404-106814405	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547059010	chr6:106814525-106814526	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566869288	chr6:106814578-106814579	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377257532	chr6:106814594-106814595	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72945593	chr6:106814650-106814651	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185616230	chr6:106814680-106814681	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1092759	chr6:106814687-106814688	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6915217	chr6:106814735-106814736	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569654939	chr6:106814744-106814745	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535138599	chr6:106814766-106814767	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189348854	chr6:106814780-106814781	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs803521	chr6:106814783-106814784	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142022294	chr6:106814795-106814796	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116785390	chr6:106814801-106814802	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180874113	chr6:106814875-106814876	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563651261	chr6:106814880-106814881	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150264476	chr6:106814886-106814887	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183829924	chr6:106814887-106814888	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79763115	chr6:106814910-106814911	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527509748	chr6:106814947-106814948	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547554638	chr6:106814960-106814961	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3862833	chr6:106815036-106815037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533207822	chr6:106815123-106815124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540125219	chr6:106815128-106815129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188700021	chr6:106815137-106815138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569353477	chr6:106815151-106815152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181547153	chr6:106815158-106815159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373546079	chr6:106815182-106815183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6916119	chr6:106815187-106815188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565423909	chr6:106815211-106815212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106810400-106817200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:106810600-106817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:106810800-106816200	Weak transcription	HMEC	breast
4	chr6:106811600-106816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:106812000-106813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:106812000-106816400	Weak transcription	NHEK	skin
7	chr6:106812200-106818000	Weak transcription	Esophagus	oesophagus
8	chr6:106813000-106813800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:106813600-106814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:106813800-106814400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:106814200-106814400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:106814400-106814600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:106814400-106815000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:106814600-106815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:106815000-106816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:106815000-106816400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:106816000-106819200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:106816200-106819600	Enhancers	HMEC	breast
19	chr6:106816200-106821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:106816400-106818000	Enhancers	NHEK	skin
21	chr6:106816400-106822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:106817000-106818200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:106817200-106819400	Enhancers	Fetal Intestine Large	intestine
24	chr6:106817600-106818600	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:106818000-106818400	Enhancers	Esophagus	oesophagus
26	chr6:106818000-106818600	Flanking Active TSS	NHEK	skin
27	chr6:106818000-106818800	Enhancers	Fetal Intestine Small	intestine
28	chr6:106818200-106818600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:106818400-106819400	Enhancers	Hela-S3	cervix
30	chr6:106818400-106819600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:106818400-106819600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:106818400-106820000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:106818400-106820000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:106818400-106824200	Weak transcription	Esophagus	oesophagus
35	chr6:106818600-106819000	Enhancers	NHEK	skin
36	chr6:106818600-106819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:106818600-106820600	Enhancers	Colon Smooth Muscle	Colon
38	chr6:106818600-106821200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:106818800-106821200	Weak transcription	Fetal Intestine Small	intestine
40	chr6:106819000-106819600	Flanking Active TSS	NHEK	skin
41	chr6:106819000-106819800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:106819000-106820000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:106819000-106820000	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:106819200-106819800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:106819200-106820200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:106819400-106819600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:106819400-106820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:106819400-106824800	Weak transcription	Hela-S3	cervix
49	chr6:106819400-106844400	Weak transcription	Fetal Intestine Large	intestine
50	chr6:106819600-106819800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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