Variant report

Variant	rs12193494
Chromosome Location	chr6:143937943-143937944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143936810..143939021-chr6:143939704..143941251,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11155311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11155314	0.83[MEX][hapmap]
rs12200809	0.81[EUR][1000 genomes]
rs13191026	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs13195900	0.92[ASN][1000 genomes]
rs13199393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338535	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2328506	0.84[ASN][1000 genomes]
rs35296418	0.84[ASN][1000 genomes]
rs67470559	0.95[ASN][1000 genomes]
rs6911970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6937798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745970	0.92[ASN][1000 genomes]
rs9496699	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143917200-143941400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:143929600-143938600	Weak transcription	Fetal Heart	heart
4	chr6:143929600-143941800	Weak transcription	Esophagus	oesophagus
5	chr6:143929600-143943400	Weak transcription	Left Ventricle	heart
6	chr6:143930400-143949400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:143930800-143946600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:143935400-143938000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:143935600-143941000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:143935600-143942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:143935600-143946600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:143936000-143938800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:143936000-143939000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:143936000-143941000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:143936000-143941400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:143936000-143941400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:143936200-143940800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:143936400-143938000	Weak transcription	Stomach Mucosa	stomach
19	chr6:143936400-143946200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:143937000-143946600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:143937000-143947000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:143937600-143938200	Enhancers	HepG2	liver
23	chr6:143937600-143938400	Enhancers	Placenta	Placenta
24	chr6:143937800-143939200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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