Variant report

Variant	rs343170
Chromosome Location	chr4:121811427-121811428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11931234	0.88[CHB][hapmap]
rs11935242	0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs11939905	0.86[CHB][hapmap];0.92[CHD][hapmap];0.81[ASN][1000 genomes]
rs11942376	0.81[ASN][1000 genomes]
rs11942389	0.85[CHB][hapmap]
rs1450476	0.93[CHB][hapmap];0.82[CHD][hapmap]
rs17051268	0.93[CHB][hapmap]
rs17051269	0.86[CHB][hapmap]
rs17051270	0.93[CHB][hapmap]
rs17051274	0.86[CHB][hapmap]
rs17051280	0.92[CHD][hapmap]
rs2667188	0.93[CHB][hapmap]
rs2667195	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115311	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115316	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343167	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343169	0.90[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs343172	0.88[YRI][hapmap];0.93[AFR][1000 genomes]
rs343199	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs4639096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833688	0.92[CHB][hapmap]
rs4833695	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55962052	0.83[ASN][1000 genomes]
rs56004809	0.83[ASN][1000 genomes]
rs56339840	0.81[ASN][1000 genomes]
rs6857653	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73843656	0.83[ASN][1000 genomes]
rs73843658	0.83[ASN][1000 genomes]
rs73843660	0.81[ASN][1000 genomes]
rs7689532	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs885460	0.86[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:23 , 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	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:121802600-121813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:121802800-121813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:121803200-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:121803400-121813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:121803400-121813800	Weak transcription	Pancreas	Pancrea
12	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
13	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
14	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
16	chr4:121807400-121813800	Weak transcription	Ovary	ovary
17	chr4:121810800-121811600	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr4:121810800-121812800	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr4:121811200-121813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:121811200-121813600	Weak transcription	Fetal Lung	lung
21	chr4:121811200-121813800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:121811400-121813800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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