Variant report

Variant	nsv969343
Chromosome Location	chr6:2108400-2134218
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:14)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
2	chr6:1607577..1610037-chr6:2107747..2109346,3	MCF-7	breast:
3	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
4	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
5	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
6	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
7	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
8	chr6:2040794..2041414-chr6:2132566..2133423,2	MCF-7	breast:
9	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
10	chr6:2119577..2122402-chr6:2352666..2355381,2	MCF-7	breast:
11	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
12	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:
13	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
14	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-12	chr6:2122596-2122839	NONHSAT106600
2	lnc-FOXC1-12	chr6:2122596-2124499	NONHSAT106601
3	lnc-FOXC1-12	chr6:2125723-2125802	NONHSAT106599
4	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106600
5	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106601
6	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106601
7	lnc-FOXC1-12	chr6:2120363-2120431	NONHSAT106599
8	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106599
9	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106599
10	lnc-FOXC1-12	chr6:2125895-2126649	NONHSAT106599
11	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106600
12	lnc-FOXC1-12	chr6:2123357-2124499	NONHSAT106600

No data

Extended variants
information (count: 917 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572823618	chr6:2108451-2108452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541004228	chr6:2108492-2108493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568296853	chr6:2108500-2108501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533865429	chr6:2108564-2108565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10484948	chr6:2108585-2108586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371864979	chr6:2108588-2108589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76182643	chr6:2108620-2108621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533106560	chr6:2108649-2108650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180869479	chr6:2108655-2108656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563297959	chr6:2108711-2108712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150346024	chr6:2108748-2108749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111264941	chr6:2108769-2108770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185418722	chr6:2108795-2108796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556341164	chr6:2108803-2108804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528406085	chr6:2108885-2108886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376512313	chr6:2108889-2108890	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190180471	chr6:2108922-2108923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547441944	chr6:2108923-2108924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182577184	chr6:2108929-2108930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73414544	chr6:2108965-2108966	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541770000	chr6:2108995-2108996	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555074025	chr6:2109018-2109019	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114169463	chr6:2109068-2109069	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375709387	chr6:2109073-2109074	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149510848	chr6:2109082-2109083	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35358444	chr6:2109119-2109120	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556022768	chr6:2109199-2109200	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144099459	chr6:2109249-2109250	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535361540	chr6:2109281-2109282	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186366737	chr6:2109301-2109302	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541343756	chr6:2109302-2109303	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369951664	chr6:2109309-2109310	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577576135	chr6:2109330-2109331	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543092208	chr6:2109346-2109347	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140624012	chr6:2109368-2109369	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191669275	chr6:2109399-2109400	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112908317	chr6:2109416-2109417	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564327798	chr6:2109433-2109434	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147359242	chr6:2109444-2109445	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528338895	chr6:2109445-2109446	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533392108	chr6:2109446-2109447	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545289173	chr6:2109507-2109508	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564279882	chr6:2109539-2109540	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533349519	chr6:2109565-2109566	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543499498	chr6:2109576-2109577	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563759341	chr6:2109591-2109592	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549954331	chr6:2109612-2109613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529371219	chr6:2109626-2109627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113668760	chr6:2109630-2109631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570143099	chr6:2109693-2109694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Schizophrenia	23813976	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
2	chr6:2079000-2108800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2081000-2108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:2081200-2113000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:2082800-2109000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:2088800-2112200	Weak transcription	Small Intestine	intestine
8	chr6:2099400-2109200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:2104400-2109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:2104400-2132000	Weak transcription	Fetal Intestine Large	intestine
11	chr6:2104600-2108800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:2104600-2108800	Weak transcription	HepG2	liver
13	chr6:2104600-2109000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:2104600-2109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:2104600-2110000	Weak transcription	Osteobl	bone
16	chr6:2104600-2110800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:2104600-2111000	Weak transcription	Hela-S3	cervix
18	chr6:2104600-2111200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:2104600-2111200	Weak transcription	Brain Anterior Caudate	brain
20	chr6:2104600-2111200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:2104600-2112000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:2104600-2116600	Weak transcription	Dnd41	blood
23	chr6:2104600-2128200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:2104800-2109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:2104800-2110200	Weak transcription	HUVEC	blood vessel
26	chr6:2104800-2112200	Weak transcription	Left Ventricle	heart
27	chr6:2105000-2109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:2105200-2123400	Weak transcription	Gastric	stomach
29	chr6:2107400-2116800	Weak transcription	Colonic Mucosa	Colon
30	chr6:2107800-2111800	Weak transcription	Fetal Stomach	stomach
31	chr6:2108000-2110600	Weak transcription	GM12878-XiMat	blood
32	chr6:2108000-2111600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:2108000-2126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:2108200-2110400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:2108200-2113000	Weak transcription	Esophagus	oesophagus
36	chr6:2108400-2110800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:2108600-2109800	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:2108600-2110600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:2108800-2109600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr6:2108800-2110200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:2108800-2110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:2108800-2118600	Strong transcription	HepG2	liver
43	chr6:2109000-2109600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:2109000-2109600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:2109000-2110000	Strong transcription	Primary T cells from cord blood	blood
46	chr6:2109000-2110600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:2109200-2109600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:2109200-2110200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:2109400-2110400	Weak transcription	Lung	lung
50	chr6:2109400-2110800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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