Variant report

Variant	rs2267681
Chromosome Location	chr7:139540935-139540936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139539840..139543405-chr7:139545009..139547964,3	K562	blood:
2	chr7:139532720..139535197-chr7:139540862..139542480,2	K562	blood:
3	chr7:139540100..139542008-chr7:139632227..139634589,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1019178	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10228337	0.85[EUR][1000 genomes]
rs10277434	0.85[EUR][1000 genomes]
rs12532701	0.85[EUR][1000 genomes]
rs2267680	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726997	0.84[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56168252	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60503820	0.85[EUR][1000 genomes]
rs6969517	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6972693	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs723670	0.90[EUR][1000 genomes]
rs7804587	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192803	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531200-139542000	Weak transcription	Right Atrium	heart
2	chr7:139531400-139542200	Weak transcription	Spleen	Spleen
3	chr7:139531400-139544600	Weak transcription	Gastric	stomach
4	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:139531600-139542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:139538000-139541800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:139538400-139541800	Weak transcription	GM12878-XiMat	blood
9	chr7:139538600-139541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:139539400-139542000	Weak transcription	Fetal Lung	lung
11	chr7:139540400-139541000	Strong transcription	Thymus	Thymus
12	chr7:139540600-139541200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:139540600-139541600	Genic enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:139540600-139545000	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:139540800-139541200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:139540800-139541400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:139540800-139541800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:139540800-139541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:139540800-139542000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:139540800-139542200	Weak transcription	Lung	lung
21	chr7:139540800-139544400	Weak transcription	Pancreas	Pancrea
22	chr7:139540800-139544800	Weak transcription	Esophagus	oesophagus

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