Variant report

Variant	rs6954520
Chromosome Location	chr7:139499771-139499772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139496148..139499029-chr7:139499477..139502002,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10248066	0.89[AMR][1000 genomes]
rs10252208	1.00[MEX][hapmap]
rs10255449	1.00[MEX][hapmap]
rs10261500	1.00[MEX][hapmap]
rs10261757	1.00[MEX][hapmap]
rs10271046	0.83[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap]
rs17161128	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17161198	1.00[MEX][hapmap]
rs17161200	1.00[MEX][hapmap]
rs17161201	1.00[MEX][hapmap]
rs17161202	1.00[MEX][hapmap]
rs17161230	1.00[MEX][hapmap]
rs17161272	1.00[MEX][hapmap]
rs1859568	1.00[MEX][hapmap]
rs2158667	1.00[MEX][hapmap]
rs28530639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714444	0.81[AFR][1000 genomes]
rs4529	1.00[MEX][hapmap]
rs55700662	0.85[AFR][1000 genomes]
rs56086211	0.88[AFR][1000 genomes]
rs60258209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947792	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs6950459	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963499	0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6963553	1.00[MEX][hapmap]
rs6964028	1.00[MEX][hapmap]
rs73735619	0.86[AFR][1000 genomes]
rs73735622	0.86[AFR][1000 genomes]
rs73735623	0.86[AFR][1000 genomes]
rs73735625	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7777901	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139485000-139502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:139489400-139502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:139497600-139499800	Weak transcription	Left Ventricle	heart
4	chr7:139497600-139503400	Weak transcription	Fetal Stomach	stomach
5	chr7:139497800-139500200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:139498000-139499800	Enhancers	Spleen	Spleen
7	chr7:139498000-139500000	Enhancers	Stomach Mucosa	stomach
8	chr7:139498000-139500200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:139498000-139500200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:139498200-139500600	Weak transcription	Gastric	stomach
11	chr7:139498200-139503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:139498400-139500000	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:139498600-139500000	Enhancers	GM12878-XiMat	blood
14	chr7:139498800-139501400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:139499000-139499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:139499000-139499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:139499200-139502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:139499400-139500000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:139499400-139500000	Enhancers	Adipose Nuclei	Adipose
20	chr7:139499600-139499800	Enhancers	Aorta	Aorta
21	chr7:139499600-139500000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:139499600-139500000	Enhancers	Fetal Muscle Leg	muscle
23	chr7:139499600-139500400	Enhancers	HSMMtube	muscle

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