Variant report

Variant	rs12213878
Chromosome Location	chr6:143947014-143947015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143834115..143837109-chr6:143945007..143947118,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10457749	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12191296	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12196002	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199016	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12203367	0.81[ASN][1000 genomes]
rs12204876	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12205130	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12206116	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208160	1.00[CHB][hapmap]
rs12208244	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210250	0.81[ASN][1000 genomes]
rs12212759	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12216096	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs17368239	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17368267	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027280	0.81[ASN][1000 genomes]
rs55854171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381834	0.81[AMR][1000 genomes]
rs6919613	0.87[EUR][1000 genomes]
rs6937056	1.00[CHB][hapmap]
rs72995603	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73003366	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73005383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744771	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9321924	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9484777	0.85[EUR][1000 genomes]
rs9496677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143930400-143949400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:143939000-143955800	Weak transcription	Stomach Mucosa	stomach
4	chr6:143942200-143950600	Weak transcription	Esophagus	oesophagus
5	chr6:143942200-143955600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:143942400-143947400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:143943600-143950400	Weak transcription	Fetal Stomach	stomach
8	chr6:143943800-143950600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:143946200-143947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:143946200-143947400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:143946200-143947400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:143946200-143947800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:143946600-143947400	Enhancers	Primary T cells from cord blood	blood
14	chr6:143946600-143947400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:143946800-143947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr6:143946800-143947400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:143947000-143947400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:143947000-143948400	Weak transcription	Primary T cells fromperipheralblood	blood

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