Variant report

Variant	rs12191119
Chromosome Location	chr6:139928377-139928378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139926929..139929579-chr6:139947168..139949800,3	K562	blood:
2	chr6:139920565..139922279-chr6:139926729..139929215,2	K562	blood:
3	chr6:139926812..139929737-chr6:139944252..139946929,2	K562	blood:
4	chr6:139691266..139693546-chr6:139926316..139928670,2	K562	blood:
5	chr6:139927028..139928862-chr6:139932935..139935592,3	K562	blood:
6	chr6:139695492..139698098-chr6:139928166..139930067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11155079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4486037	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6570368	0.82[EUR][1000 genomes]
rs6917245	0.82[EUR][1000 genomes]
rs6917394	0.82[EUR][1000 genomes]
rs6917655	0.81[EUR][1000 genomes]
rs6940157	0.82[EUR][1000 genomes]
rs7349945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7759402	0.80[EUR][1000 genomes]
rs9321736	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9321745	0.88[ASW][hapmap]
rs9495538	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9495557	0.88[ASW][hapmap]

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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139913000-139928600	Weak transcription	Ovary	ovary
2	chr6:139920800-139928600	Weak transcription	Osteobl	bone
3	chr6:139924400-139928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:139924600-139928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:139925000-139928600	Weak transcription	K562	blood
6	chr6:139925400-139928400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:139925400-139928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:139925400-139928400	Weak transcription	Fetal Stomach	stomach
9	chr6:139925400-139928600	Weak transcription	Fetal Brain Male	brain
10	chr6:139925400-139928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:139925400-139928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:139925400-139928800	Weak transcription	Aorta	Aorta
13	chr6:139926800-139928600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:139927400-139930600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:139927600-139930000	Enhancers	Fetal Kidney	kidney
16	chr6:139928000-139929200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:139928000-139929400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:139928000-139930000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:139928000-139930200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:139928000-139930400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:139928200-139930000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:139928200-139930000	Enhancers	Fetal Lung	lung

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