Variant report

Variant	rs2894394
Chromosome Location	chr6:34428712-34428713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34390709..34393281-chr6:34426024..34429452,3	K562	blood:
2	chr6:34426426..34428741-chr6:34445639..34448002,2	K562	blood:
3	chr6:34213313..34215727-chr6:34426612..34429528,2	K562	blood:

Variant related genes	Relation type
ENSG00000124614	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16885036	1.00[CEU][hapmap]
rs16889678	1.00[CEU][hapmap]
rs16889690	1.00[CEU][hapmap]
rs16889754	1.00[CEU][hapmap]
rs58837036	0.82[EUR][1000 genomes]
rs61034957	0.90[EUR][1000 genomes]
rs62399898	0.82[EUR][1000 genomes]
rs9380430	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr6:34394400-34433200	Weak transcription	Right Atrium	heart
2	chr6:34425000-34429000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:34425600-34429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:34426000-34430400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:34426000-34430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:34426400-34430000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:34426600-34429400	Weak transcription	K562	blood
8	chr6:34426600-34430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:34428000-34428800	Enhancers	A549	lung
10	chr6:34428000-34429000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:34428000-34429200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:34428000-34429200	Enhancers	NHEK	skin
13	chr6:34428000-34430200	Weak transcription	Liver	Liver
14	chr6:34428000-34432200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:34428200-34430000	Weak transcription	HepG2	liver
16	chr6:34428200-34430400	Weak transcription	Stomach Mucosa	stomach
17	chr6:34428600-34428800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:34428600-34429200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:34428600-34429200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:34428600-34429200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:34428600-34429200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:34428600-34429200	Enhancers	HMEC	breast
23	chr6:34428600-34429400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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