Variant report

Variant	rs2984822
Chromosome Location	chr1:62562578-62562579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12746804	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2476188	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6699078	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:62536800-62566000	Weak transcription	Gastric	stomach
8	chr1:62541600-62563000	Weak transcription	Lung	lung
9	chr1:62542400-62586800	Weak transcription	NHEK	skin
10	chr1:62542400-62587400	Weak transcription	HMEC	breast
11	chr1:62542600-62563000	Weak transcription	Aorta	Aorta
12	chr1:62543400-62569400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:62544000-62575800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:62545000-62574800	Weak transcription	Fetal Kidney	kidney
15	chr1:62545400-62606800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:62548200-62594000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:62550200-62607800	Weak transcription	Right Ventricle	heart
19	chr1:62551400-62576000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:62551800-62594200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:62551800-62614000	Weak transcription	Primary T cells from cord blood	blood
22	chr1:62553000-62579000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:62553000-62582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:62553200-62594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:62553400-62579600	Weak transcription	Pancreas	Pancrea
26	chr1:62553600-62563000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:62553600-62579600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:62554200-62562800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:62554200-62614000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:62554400-62565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:62554400-62581600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:62555000-62589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:62555000-62594200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:62555200-62563000	Weak transcription	Esophagus	oesophagus
35	chr1:62555600-62563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:62555600-62563000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:62555600-62569400	Weak transcription	Ovary	ovary
38	chr1:62555800-62569600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:62555800-62571000	Weak transcription	HepG2	liver
40	chr1:62556000-62565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:62556000-62566600	Weak transcription	Fetal Heart	heart
42	chr1:62556000-62594200	Weak transcription	Left Ventricle	heart
43	chr1:62556600-62569400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:62557000-62562800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:62559000-62566200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:62559600-62582000	Weak transcription	Liver	Liver
47	chr1:62561000-62563600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:62562400-62563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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