Variant report

Variant	rs2949626
Chromosome Location	chr4:107282656-107282657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107275880..107279456-chr4:107281523..107285039,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10004034	0.94[ASN][1000 genomes]
rs10017707	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11097923	0.94[ASN][1000 genomes]
rs1134648	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11938792	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512475	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17036581	0.92[ASN][1000 genomes]
rs2691805	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691806	0.99[ASN][1000 genomes]
rs2728176	0.99[ASN][1000 genomes]
rs2728177	0.99[ASN][1000 genomes]
rs2949645	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2949646	0.89[CEU][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2949647	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2949649	0.93[ASN][1000 genomes]
rs2949651	0.93[ASN][1000 genomes]
rs3018057	0.92[ASN][1000 genomes]
rs3018059	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018060	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3018061	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3018062	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3018063	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3018064	0.81[AMR][1000 genomes]
rs3018065	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3018067	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3109950	0.99[ASN][1000 genomes]
rs3109951	0.99[ASN][1000 genomes]
rs3109952	0.99[ASN][1000 genomes]
rs3109954	0.81[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs3109956	0.99[ASN][1000 genomes]
rs3109959	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3113246	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3113251	0.99[ASN][1000 genomes]
rs3133167	0.97[ASN][1000 genomes]
rs3133172	0.99[ASN][1000 genomes]
rs3133173	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34305991	0.93[ASN][1000 genomes]
rs4415033	0.92[ASN][1000 genomes]
rs4441824	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4560491	0.87[CHB][hapmap];0.94[ASN][1000 genomes]
rs4582218	0.93[ASN][1000 genomes]
rs57983950	0.93[ASN][1000 genomes]
rs6533241	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6533244	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs6848855	0.94[ASN][1000 genomes]
rs727618	0.88[CEU][hapmap]
rs7442226	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7677394	0.93[ASN][1000 genomes]
rs7680756	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7694217	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2949626	OSTC	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107260800-107285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:107270600-107286200	Weak transcription	HepG2	liver
3	chr4:107270800-107283200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
6	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:107280400-107286400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:107280800-107285400	Weak transcription	HSMM	muscle
10	chr4:107280800-107285400	Weak transcription	NHLF	lung
11	chr4:107280800-107285400	Weak transcription	Osteobl	bone
12	chr4:107280800-107285600	Weak transcription	HSMMtube	muscle
13	chr4:107280800-107286200	Weak transcription	NH-A	brain
14	chr4:107281000-107285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:107281000-107286200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:107281200-107285400	Weak transcription	NHDF-Ad	bronchial

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