Variant report

Variant	esv2763525
Chromosome Location	chr6:1994892-2006033
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:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1993624..1996051-chr6:2001806..2003962,2	MCF-7	breast:
2	chr6:1992439..1995123-chr6:2017322..2020251,2	MCF-7	breast:
3	chr6:1641666..1642175-chr6:1997946..1998735,2	MCF-7	breast:
4	chr6:2005493..2008020-chr6:2019551..2022122,2	K562	blood:
5	chr6:1641287..1642175-chr6:1997946..1998735,3	MCF-7	breast:
6	chr6:1995618..1998504-chr6:2001883..2003856,2	MCF-7	breast:
7	chr6:1995618..1998504-chr6:2001883..2003856,2	MCF-7	breast:
8	chr6:1996917..1999046-chr6:2003121..2005556,2	MCF-7	breast:
9	chr6:1996917..1999046-chr6:2003121..2005556,2	MCF-7	breast:
10	chr6:1993624..1996051-chr6:2001806..2003962,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-11	chr6:1995702-1996456	NONHSAT106574
2	lnc-FOXC1-11	chr6:1995530-1995609	NONHSAT106574
3	lnc-C6orf195-24	chr6:2003923-2004412	NONHSAT106585

No data

Extended variants
information (count: 471 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6921819	chr6:1994892-1994893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2504731	chr6:1994895-1994896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571738474	chr6:1994908-1994909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146482427	chr6:1994964-1994965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182300929	chr6:1995013-1995014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573755282	chr6:1995031-1995032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542625337	chr6:1995040-1995041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78842656	chr6:1995103-1995104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111271461	chr6:1995139-1995140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540960583	chr6:1995190-1995191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564355129	chr6:1995223-1995224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532987204	chr6:1995233-1995234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143484092	chr6:1995250-1995251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563388756	chr6:1995328-1995329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528970074	chr6:1995364-1995365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549027564	chr6:1995391-1995392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530296089	chr6:1995416-1995417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186022713	chr6:1995460-1995461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528820304	chr6:1995467-1995468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551783238	chr6:1995468-1995469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6596866	chr6:1995508-1995509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537255978	chr6:1995518-1995519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79981322	chr6:1995522-1995523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566950667	chr6:1995550-1995551	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs62390706	chr6:1995606-1995607	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536322088	chr6:1995623-1995624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552992572	chr6:1995686-1995687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573155279	chr6:1995733-1995734	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200281961	chr6:1995738-1995739	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs34348160	chr6:1995741-1995742	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs75700338	chr6:1995743-1995744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545340936	chr6:1995766-1995767	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs557778871	chr6:1995772-1995773	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs577836514	chr6:1995784-1995785	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543664284	chr6:1995815-1995816	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs190893604	chr6:1995824-1995825	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs528347977	chr6:1995825-1995826	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs531752393	chr6:1995860-1995861	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs180992450	chr6:1995932-1995933	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs559347458	chr6:1995975-1995976	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs528077041	chr6:1995979-1995980	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs551315255	chr6:1995992-1995993	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs146741986	chr6:1996075-1996076	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148905628	chr6:1996080-1996081	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs34655912	chr6:1996121-1996122	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs77989488	chr6:1996123-1996124	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs199746993	chr6:1996124-1996125	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs35546016	chr6:1996139-1996140	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375962221	chr6:1996174-1996175	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185337722	chr6:1996175-1996176	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1985000-2010200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:1987400-2003600	Weak transcription	Aorta	Aorta
3	chr6:1988400-2008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:1988800-1995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:1990200-2008600	Weak transcription	Pancreas	Pancrea
6	chr6:1990400-2010800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:1992800-1997800	Weak transcription	Gastric	stomach
8	chr6:1992800-2010200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:1993000-2021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:1993200-1995000	Enhancers	GM12878-XiMat	blood
11	chr6:1993200-2005400	Weak transcription	HepG2	liver
12	chr6:1993200-2007200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:1993400-2000400	Weak transcription	Primary T cells from cord blood	blood
14	chr6:1993800-2001000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:1994400-1995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:1995000-1996200	Weak transcription	GM12878-XiMat	blood
17	chr6:1995400-1996200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:1995800-1996200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:1995800-1996400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:1996000-1996200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:1996200-1996400	Enhancers	GM12878-XiMat	blood
22	chr6:1997800-1998200	Enhancers	Gastric	stomach
23	chr6:1997800-1998800	Enhancers	Liver	Liver
24	chr6:1998200-2002400	Weak transcription	Gastric	stomach
25	chr6:2000000-2021200	Weak transcription	Small Intestine	intestine
26	chr6:2000800-2001200	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr6:2001000-2001200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:2001000-2009600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:2002400-2002600	Enhancers	Gastric	stomach
30	chr6:2002600-2008600	Weak transcription	Gastric	stomach
31	chr6:2002800-2008800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:2003600-2003800	Enhancers	Aorta	Aorta
33	chr6:2004000-2004400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:2005400-2006200	Genic enhancers	HepG2	liver

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