Variant report

Variant	nsv886314
Chromosome Location	chr6:81341175-81379791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1700 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2444830	chr6:81341175-81341176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543839037	chr6:81341205-81341206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563590489	chr6:81341206-81341207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79459650	chr6:81341216-81341217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549284105	chr6:81341247-81341248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115002609	chr6:81341257-81341258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532818047	chr6:81341295-81341296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371601014	chr6:81341302-81341303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552082645	chr6:81341311-81341312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572020392	chr6:81341319-81341320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139779030	chr6:81341320-81341321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78304319	chr6:81341324-81341325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567205327	chr6:81341334-81341335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2444829	chr6:81341342-81341343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75457447	chr6:81341357-81341358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386703105	chr6:81341391-81341392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140306550	chr6:81341394-81341395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144771521	chr6:81341395-81341396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181114682	chr6:81341398-81341399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398110347	chr6:81341399-81341400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538489870	chr6:81341414-81341415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558419256	chr6:81341518-81341519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186763718	chr6:81341539-81341540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538555894	chr6:81341587-81341588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543404821	chr6:81341595-81341596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566370723	chr6:81341596-81341597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189666595	chr6:81341643-81341644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535257297	chr6:81341679-81341680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557345716	chr6:81341697-81341698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574016985	chr6:81341702-81341703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2496688	chr6:81341739-81341740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146067763	chr6:81341766-81341767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550237285	chr6:81341783-81341784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528693917	chr6:81341790-81341791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182303753	chr6:81341801-81341802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186161177	chr6:81341816-81341817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552267366	chr6:81341821-81341822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559370292	chr6:81341828-81341829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148705488	chr6:81341877-81341878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190775220	chr6:81341896-81341897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142352909	chr6:81341910-81341911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567235720	chr6:81341911-81341912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117027084	chr6:81341937-81341938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535894958	chr6:81341957-81341958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546669705	chr6:81341962-81341963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566270311	chr6:81341965-81341966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184106063	chr6:81341968-81341969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558332315	chr6:81341973-81341974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114979023	chr6:81341988-81341989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568782343	chr6:81342064-81342065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Obesity	21131291	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81333000-81348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81346200-81346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:81346200-81349400	Enhancers	Osteobl	bone
4	chr6:81346200-81349600	Enhancers	NHLF	lung
5	chr6:81346400-81347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:81346400-81347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:81346400-81349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:81346400-81349200	Enhancers	NHDF-Ad	bronchial
9	chr6:81346600-81346800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:81346600-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:81346800-81347000	Enhancers	HSMM	muscle
12	chr6:81346800-81350600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:81347000-81347200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:81347000-81347400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:81347000-81347400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:81347000-81347400	Enhancers	NH-A	brain
17	chr6:81347000-81348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:81347000-81348200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:81347000-81348200	Weak transcription	HSMM	muscle
20	chr6:81347200-81348000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:81347200-81348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:81347200-81349400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:81347400-81347800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:81347400-81347800	Weak transcription	NH-A	brain
25	chr6:81347400-81348800	Enhancers	A549	lung
26	chr6:81347400-81349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:81347600-81348800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:81347800-81348200	Enhancers	HUVEC	blood vessel
29	chr6:81347800-81349000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:81347800-81349200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:81347800-81349200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:81347800-81349200	Enhancers	HMEC	breast
33	chr6:81347800-81349400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:81347800-81349400	Enhancers	NH-A	brain
35	chr6:81347800-81349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:81348000-81348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:81348000-81348600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:81348000-81348800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:81348000-81349000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:81348000-81349000	Enhancers	Stomach Mucosa	stomach
41	chr6:81348000-81349000	Enhancers	NHEK	skin
42	chr6:81348000-81349200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:81348000-81349200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:81348000-81349200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:81348000-81349200	Enhancers	Small Intestine	intestine
46	chr6:81348000-81349200	Enhancers	Hela-S3	cervix
47	chr6:81348000-81350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:81348200-81348400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:81348200-81348400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:81348200-81349000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links