Variant report

Variant	rs73405550
Chromosome Location	chr6:1718352-1718353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1022548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12110888	1.00[EUR][1000 genomes]
rs12111369	1.00[EUR][1000 genomes]
rs2230096	1.00[EUR][1000 genomes]
rs2569852	1.00[EUR][1000 genomes]
rs2745582	1.00[EUR][1000 genomes]
rs2745583	1.00[EUR][1000 genomes]
rs2745584	1.00[EUR][1000 genomes]
rs2745590	1.00[EUR][1000 genomes]
rs2816230	1.00[EUR][1000 genomes]
rs2816231	1.00[EUR][1000 genomes]
rs2816232	1.00[EUR][1000 genomes]
rs58299283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524499	1.00[EUR][1000 genomes]
rs6912170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73406890	1.00[EUR][1000 genomes]
rs73406891	1.00[EUR][1000 genomes]
rs73406893	1.00[EUR][1000 genomes]
rs73716255	1.00[EUR][1000 genomes]
rs7753155	1.00[EUR][1000 genomes]
rs7771636	1.00[EUR][1000 genomes]
rs9392323	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv432843	chr6:1694719-1725261	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1694200-1724400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:1695400-1729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:1695800-1731400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
5	chr6:1703600-1720800	Weak transcription	Right Atrium	heart
6	chr6:1704000-1721000	Weak transcription	Lung	lung
7	chr6:1704200-1725200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:1704600-1720800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:1705800-1724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:1706000-1724200	Weak transcription	NHEK	skin
11	chr6:1706800-1726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:1707200-1724600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:1707800-1724600	Weak transcription	GM12878-XiMat	blood
14	chr6:1708200-1724600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:1709800-1720800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:1709800-1724400	Weak transcription	Spleen	Spleen
17	chr6:1710000-1718400	Weak transcription	Gastric	stomach
18	chr6:1710000-1718400	Weak transcription	Pancreas	Pancrea
19	chr6:1711000-1724200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:1712400-1720800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:1713200-1719800	Strong transcription	HepG2	liver
22	chr6:1713400-1724800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:1713400-1726000	Weak transcription	Dnd41	blood
24	chr6:1713800-1722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:1714600-1719800	Strong transcription	Fetal Intestine Small	intestine
26	chr6:1715800-1720800	Weak transcription	Left Ventricle	heart
27	chr6:1715800-1724400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:1716000-1749200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:1716400-1724800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:1716600-1728200	Weak transcription	Liver	Liver
31	chr6:1716800-1720800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:1717000-1726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:1717200-1718800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:1717600-1719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:1717600-1723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:1717600-1724200	Weak transcription	Primary T cells from cord blood	blood
37	chr6:1717600-1731600	Weak transcription	Aorta	Aorta
38	chr6:1717800-1718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:1717800-1719800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:1717800-1721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:1718200-1718800	Strong transcription	Primary hematopoietic stem cells	blood

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