Variant report

Variant	rs12196002
Chromosome Location	chr6:143955235-143955236
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	chr6:143949730..143952887-chr6:143954270..143956854,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10457749	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12191296	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12199016	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12203367	0.81[ASN][1000 genomes]
rs12204876	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12205130	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12206116	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208244	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210250	0.81[ASN][1000 genomes]
rs12212759	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12213878	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216096	0.86[EUR][1000 genomes]
rs17368239	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17368267	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027280	0.81[ASN][1000 genomes]
rs55854171	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919613	0.86[EUR][1000 genomes]
rs72995603	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73003366	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73005383	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744771	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9321924	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9484777	0.84[EUR][1000 genomes]
rs9496677	0.82[EUR][1000 genomes];0.81[ASN][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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv517253	chr6:143953672-143975157	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143939000-143955800	Weak transcription	Stomach Mucosa	stomach
3	chr6:143942200-143955600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:143951200-143955600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:143954400-143958200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:143955000-143955800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:143955000-143955800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:143955000-143956600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:143955200-143955800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:143955200-143956000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:143955200-143956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:143955200-143956200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links