Variant report

Variant	rs1597491
Chromosome Location	chr4:121810237-121810238
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10006287	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1015219	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10518380	0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11943025	0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499872	0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501914	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12503895	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12507367	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12510578	1.00[ASN][1000 genomes]
rs12511422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639719	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639772	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12640648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648660	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1397768	0.89[JPT][hapmap]
rs1397771	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1397774	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1450461	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1470695	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1511302	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1588524	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs168226	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs17051240	0.89[JPT][hapmap]
rs17051244	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs17051252	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs17051254	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs17051259	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs17051271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17051275	0.84[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171068	0.81[ASN][1000 genomes]
rs1809075	0.81[ASN][1000 genomes]
rs2136999	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2167208	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667171	0.81[ASN][1000 genomes]
rs343182	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs343185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs343189	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3789139	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs3806807	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4833672	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs4833688	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833689	0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57023921	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680418	0.81[ASN][1000 genomes]
rs72680432	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680433	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680438	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680440	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680445	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680451	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680462	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680476	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680477	1.00[ASN][1000 genomes]
rs72680480	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680484	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680490	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680497	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680498	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs896060	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs994831	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv980152	chr4:121807702-121817738	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv3387720	chr4:121808252-121810250	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121797000-121823800	Weak transcription	Osteobl	bone
3	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121798800-121810600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:121799200-121811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:121802600-121813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:121802800-121813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:121803200-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:121803400-121810800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:121803400-121813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:121803400-121813800	Weak transcription	Pancreas	Pancrea
15	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
16	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
17	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
19	chr4:121807400-121813800	Weak transcription	Ovary	ovary
20	chr4:121808600-121810600	Weak transcription	Left Ventricle	heart
21	chr4:121808600-121810800	Weak transcription	Psoas Muscle	Psoas
22	chr4:121808800-121811000	Weak transcription	Fetal Lung	lung

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