Variant report

Variant	rs2949651
Chromosome Location	chr4:107285912-107285913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10004034	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10017707	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097923	0.88[ASN][1000 genomes]
rs1134648	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11938792	0.88[ASN][1000 genomes]
rs12512475	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691805	0.94[ASN][1000 genomes]
rs2691806	0.94[ASN][1000 genomes]
rs2728176	0.94[ASN][1000 genomes]
rs2728177	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2949626	0.93[ASN][1000 genomes]
rs2949649	1.00[ASN][1000 genomes]
rs3018057	0.86[ASN][1000 genomes]
rs3018059	0.93[ASN][1000 genomes]
rs3018067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3109950	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3109951	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3109952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109954	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109956	0.94[ASN][1000 genomes]
rs3109959	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3113246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3113251	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133167	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133172	0.94[ASN][1000 genomes]
rs3133173	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs34305991	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4415033	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4441824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4560491	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4582218	0.88[ASN][1000 genomes]
rs57983950	0.88[ASN][1000 genomes]
rs6533241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6533244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6848855	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7442226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7677394	0.88[ASN][1000 genomes]
rs7680756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7694217	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1008963	chr4:107282656-107384924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107270600-107286200	Weak transcription	HepG2	liver
2	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
4	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:107280400-107286400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:107280800-107286200	Weak transcription	NH-A	brain
8	chr4:107281000-107286200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:107283800-107286600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:107285200-107288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:107285400-107286000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:107285400-107286600	Enhancers	NHDF-Ad	bronchial
13	chr4:107285400-107287800	Enhancers	NHLF	lung
14	chr4:107285400-107287800	Enhancers	Osteobl	bone
15	chr4:107285400-107288400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:107285400-107288400	Enhancers	HSMM	muscle
17	chr4:107285600-107287600	Enhancers	HSMMtube	muscle
18	chr4:107285600-107287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:107285800-107286600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:107285800-107286800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:107285800-107287000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:107285800-107287000	Weak transcription	Psoas Muscle	Psoas
23	chr4:107285800-107288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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