Variant report

Variant	rs6757729
Chromosome Location	chr2:11846696-11846697
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	chr2:11845672..11848485-chr2:11854738..11857350,2	K562	blood:
2	chr2:11846487..11849163-chr2:11861394..11864820,3	K562	blood:

Variant related genes	Relation type
ENSG00000203643	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs11886664	1.00[CEU][hapmap]
rs11890286	0.83[EUR][1000 genomes]
rs11895768	1.00[CEU][hapmap]
rs13421766	1.00[CEU][hapmap]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857649	1.00[CEU][hapmap]
rs16857699	1.00[CEU][hapmap]
rs4233903	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4387757	1.00[CEU][hapmap]
rs55676775	0.83[EUR][1000 genomes]
rs56858654	0.83[EUR][1000 genomes]
rs58273936	0.83[EUR][1000 genomes]
rs59502453	0.83[EUR][1000 genomes]
rs59838011	0.83[EUR][1000 genomes]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap]
rs6754255	0.92[EUR][1000 genomes]
rs73179361	0.83[EUR][1000 genomes]
rs73179363	0.83[EUR][1000 genomes]
rs73179396	0.92[EUR][1000 genomes]
rs73179398	0.83[EUR][1000 genomes]
rs73181372	0.83[EUR][1000 genomes]
rs73181378	0.92[EUR][1000 genomes]
rs7556803	0.83[EUR][1000 genomes]
rs7562399	1.00[CEU][hapmap]
rs7580386	0.83[EUR][1000 genomes]
rs7580501	0.83[EUR][1000 genomes]
rs7581186	0.83[EUR][1000 genomes]
rs7581192	0.83[EUR][1000 genomes]
rs7583977	0.83[EUR][1000 genomes]
rs7583991	0.83[EUR][1000 genomes]
rs7585718	1.00[CEU][hapmap]
rs7594198	0.83[EUR][1000 genomes]
rs7594406	0.83[EUR][1000 genomes]
rs7597552	0.83[EUR][1000 genomes]
rs7597790	0.83[EUR][1000 genomes]
rs7598255	0.83[EUR][1000 genomes]
rs7601181	0.83[EUR][1000 genomes]
rs7606137	0.83[EUR][1000 genomes]
rs7606378	0.83[EUR][1000 genomes]
rs7606724	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11837800-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:11838600-11848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11841600-11850000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:11841600-11850000	Weak transcription	Ovary	ovary
5	chr2:11841600-11850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:11841800-11850200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:11842200-11847600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:11843200-11847800	Weak transcription	Placenta	Placenta
9	chr2:11844200-11854200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:11844400-11847800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:11844600-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:11844600-11849800	Weak transcription	NH-A	brain
13	chr2:11844600-11849800	Weak transcription	NHLF	lung
14	chr2:11844600-11856400	Weak transcription	Psoas Muscle	Psoas
15	chr2:11844800-11850000	Weak transcription	NHDF-Ad	bronchial
16	chr2:11845000-11848200	Weak transcription	Osteobl	bone
17	chr2:11845000-11849800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:11845800-11847400	Weak transcription	Esophagus	oesophagus
19	chr2:11845800-11848000	Weak transcription	Pancreas	Pancrea
20	chr2:11845800-11851000	Weak transcription	Liver	Liver

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