Variant report

Variant	rs2476166
Chromosome Location	chr1:47030295-47030296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1258010	0.96[ASN][1000 genomes]
rs1258022	0.96[ASN][1000 genomes]
rs1258050	0.96[ASN][1000 genomes]
rs1258051	0.96[ASN][1000 genomes]
rs1767598	0.96[ASN][1000 genomes]
rs1767612	0.96[ASN][1000 genomes]
rs6429603	1.00[EUR][1000 genomes]
rs6673787	1.00[EUR][1000 genomes]
rs946321	0.96[ASN][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
9	chr1:47019800-47043600	Weak transcription	Dnd41	blood
10	chr1:47020600-47031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
12	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
13	chr1:47021200-47045000	Weak transcription	K562	blood
14	chr1:47021600-47032800	Weak transcription	GM12878-XiMat	blood
15	chr1:47021800-47054600	Weak transcription	A549	lung
16	chr1:47022000-47031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:47022200-47043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
19	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:47022600-47051600	Strong transcription	Liver	Liver
21	chr1:47023000-47034600	Strong transcription	Adipose Nuclei	Adipose
22	chr1:47023000-47039200	Strong transcription	Fetal Intestine Small	intestine
23	chr1:47023000-47044200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
25	chr1:47023200-47030400	Weak transcription	Psoas Muscle	Psoas
26	chr1:47023200-47031600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:47023200-47031600	Strong transcription	Gastric	stomach
28	chr1:47023200-47031800	Strong transcription	Aorta	Aorta
29	chr1:47023200-47031800	Strong transcription	Left Ventricle	heart
30	chr1:47023200-47031800	Strong transcription	Lung	lung
31	chr1:47023200-47033800	Strong transcription	Placenta	Placenta
32	chr1:47023200-47034200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:47023200-47034200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:47023200-47034400	Strong transcription	Fetal Stomach	stomach
35	chr1:47023200-47034400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:47023200-47036400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:47023200-47036600	Strong transcription	Ovary	ovary
38	chr1:47023200-47036800	Strong transcription	Pancreas	Pancrea
39	chr1:47023200-47044400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:47023200-47046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:47023200-47047200	Strong transcription	Fetal Thymus	thymus
42	chr1:47023200-47051200	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:47023400-47031200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:47023400-47031800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:47023400-47034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:47023400-47034400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:47023400-47034400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:47023400-47038400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:47023400-47044600	Weak transcription	Muscle Satellite Cultured Cells	--

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