Variant report

Variant	rs6943656
Chromosome Location	chr7:136639436-136639437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136638125..136641155-chr7:136643037..136646443,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10488600	0.84[JPT][hapmap]
rs1111418	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs12155015	0.86[CHD][hapmap]
rs1364408	0.91[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1424546	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1455857	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs17168815	0.89[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17168819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1824024	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs2350782	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs58394792	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6952499	0.96[ASN][1000 genomes]
rs73158732	0.83[AMR][1000 genomes]
rs73158742	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73158743	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73158749	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73158750	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7806357	0.89[JPT][hapmap]
rs960677	0.84[JPT][hapmap]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6943656	CHCHD3	cis	parietal	SCAN
rs6943656	WDR91	cis	parietal	SCAN
rs6943656	MKRN1	cis	cerebellum	SCAN
rs6943656	BPGM	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
2	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
3	chr7:136633800-136641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136635600-136641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:136637200-136639800	Weak transcription	Fetal Heart	heart
6	chr7:136638000-136641200	Enhancers	HUVEC	blood vessel
7	chr7:136638400-136640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:136638400-136640600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136638400-136642200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:136638800-136640200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:136638800-136640200	Weak transcription	NH-A	brain
12	chr7:136638800-136640200	Weak transcription	Osteobl	bone
13	chr7:136638800-136641600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:136638800-136641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:136638800-136641600	Weak transcription	Gastric	stomach
16	chr7:136638800-136641600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:136639000-136640000	Weak transcription	NHLF	lung
18	chr7:136639000-136640200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:136639000-136640400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:136639000-136641400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:136639400-136641600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links