Variant report

Variant	rs2774932
Chromosome Location	chr1:62608613-62608614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1811891	0.83[EUR][1000 genomes]
rs2251367	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2264960	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457821	0.95[ASN][1000 genomes]
rs2457832	0.84[EUR][1000 genomes]
rs2476195	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2476196	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2476197	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2476200	0.83[EUR][1000 genomes]
rs2481667	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2481668	0.92[EUR][1000 genomes]
rs2481669	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2481672	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481673	0.82[EUR][1000 genomes]
rs2481674	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2481675	0.95[ASN][1000 genomes]
rs2481680	0.84[EUR][1000 genomes]
rs2481706	0.84[EUR][1000 genomes]
rs2666468	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2666491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666494	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2984823	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2989012	0.84[EUR][1000 genomes]
rs6587956	0.80[ASN][1000 genomes]
rs7520269	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7530787	0.87[EUR][1000 genomes]
rs7535875	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7538266	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9436220	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:62551800-62614000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:62554200-62614000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:62563600-62617400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:62566200-62614000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:62576600-62618000	Weak transcription	Psoas Muscle	Psoas
9	chr1:62580000-62611600	Weak transcription	Pancreas	Pancrea
10	chr1:62580200-62617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:62588600-62622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:62590800-62609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:62593200-62621800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:62593400-62617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
16	chr1:62594400-62614800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:62595000-62612600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:62595200-62614200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:62595200-62625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:62595400-62614000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:62596000-62614000	Weak transcription	Left Ventricle	heart
22	chr1:62596000-62617800	Weak transcription	Aorta	Aorta
23	chr1:62596200-62614200	Weak transcription	Ovary	ovary
24	chr1:62598600-62614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:62598800-62612600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:62599000-62616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:62599400-62609000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:62602800-62614000	Weak transcription	HMEC	breast
29	chr1:62603000-62614200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:62603600-62609200	Weak transcription	NHEK	skin
31	chr1:62603800-62613800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:62603800-62617200	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:62603800-62617400	Weak transcription	Gastric	stomach
34	chr1:62603800-62617800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:62604000-62614000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:62604000-62614000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:62604600-62617800	Weak transcription	Esophagus	oesophagus
38	chr1:62605000-62631800	Weak transcription	Lung	lung
39	chr1:62605200-62614000	Weak transcription	Liver	Liver
40	chr1:62605200-62622400	Weak transcription	Fetal Brain Female	brain
41	chr1:62605200-62624400	Weak transcription	Right Atrium	heart
42	chr1:62605400-62613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:62606000-62612600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:62606000-62617400	Weak transcription	A549	lung
45	chr1:62606400-62628600	Weak transcription	Stomach Mucosa	stomach
46	chr1:62606800-62614000	Weak transcription	Fetal Stomach	stomach
47	chr1:62607000-62612600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:62607000-62630000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:62607200-62609400	Weak transcription	Fetal Intestine Small	intestine
50	chr1:62607600-62609000	Enhancers	HUES48 Cell Line	embryonic stem cell

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