Variant report

Variant	rs643381
Chromosome Location	chr6:139839423-139839424
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:139839378..139842332-chr6:139842713..139845287,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11155072	0.87[ASN][1000 genomes]
rs11155073	0.87[ASN][1000 genomes]
rs17513809	0.84[ASN][1000 genomes]
rs17585887	0.87[ASN][1000 genomes]
rs17585915	0.87[ASN][1000 genomes]
rs2908522	0.83[ASN][1000 genomes]
rs2982521	0.86[ASN][1000 genomes]
rs3861397	0.86[ASN][1000 genomes]
rs4896468	0.90[ASN][1000 genomes]
rs589235	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590856	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs592423	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605066	0.87[ASN][1000 genomes]
rs60562771	0.83[ASN][1000 genomes]
rs607342	0.87[ASN][1000 genomes]
rs608736	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632057	0.81[CEU][hapmap];0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs634869	0.87[ASN][1000 genomes]
rs635243	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs635769	0.87[ASN][1000 genomes]
rs636202	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes]
rs651837	0.87[ASN][1000 genomes]
rs654689	0.87[ASN][1000 genomes]
rs668459	0.87[ASN][1000 genomes]
rs672457	0.87[ASN][1000 genomes]
rs679582	0.87[ASN][1000 genomes]
rs72976928	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Mean corpuscular volume	19862010	GWAS catalog

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139832000-139855200	Weak transcription	Right Atrium	heart
2	chr6:139837000-139840000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:139837000-139840000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:139837000-139840000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:139837000-139840400	Weak transcription	HSMMtube	muscle
6	chr6:139837000-139840600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:139837000-139840600	Weak transcription	NHDF-Ad	bronchial
8	chr6:139837000-139840600	Weak transcription	Osteobl	bone
9	chr6:139837000-139843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:139837000-139843600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:139837000-139843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:139837000-139843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:139837200-139840400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:139837200-139840600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:139837200-139840600	Weak transcription	Placenta	Placenta
16	chr6:139837200-139840800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:139837800-139840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:139837800-139840600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:139838000-139840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:139838000-139841000	Weak transcription	HMEC	breast
21	chr6:139838000-139844000	Weak transcription	Hela-S3	cervix
22	chr6:139838200-139839800	Enhancers	K562	blood
23	chr6:139838200-139841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:139838400-139840400	Weak transcription	NHEK	skin
25	chr6:139838400-139840800	Weak transcription	Stomach Mucosa	stomach
26	chr6:139838800-139841600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:139839000-139839600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:139839000-139840400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:139839200-139840400	Enhancers	Fetal Heart	heart
30	chr6:139839400-139839800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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