Variant report

Variant	rs6710956
Chromosome Location	chr2:30391851-30391852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30391758..30394636-chr2:30396295..30399103,2	K562	blood:
2	chr2:30391218..30393006-chr2:30926387..30928024,2	K562	blood:
3	chr2:30379061..30381477-chr2:30389554..30391968,2	MCF-7	breast:
4	chr2:30388130..30392158-chr2:30882898..30886661,6	K562	blood:
5	chr2:30390741..30392529-chr2:30392950..30394868,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

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

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

rs_ID	r²[population]
rs12052275	0.87[ASN][1000 genomes]
rs1345151	0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1374724	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1509576	0.85[ASN][1000 genomes]
rs1509579	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17009154	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17009178	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2361751	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3768669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3768670	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3768671	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4951982	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4952094	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56696610	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57641749	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6547994	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6547997	0.80[CHD][hapmap];0.95[JPT][hapmap]
rs6718385	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6719849	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6739748	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6752385	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7558465	0.81[ASN][1000 genomes]
rs7585317	0.85[ASN][1000 genomes]
rs7585724	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7603389	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7608690	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs935486	0.85[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30382400-30392000	Weak transcription	Gastric	stomach
3	chr2:30382400-30393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30382400-30395600	Weak transcription	Aorta	Aorta
5	chr2:30382400-30400400	Weak transcription	Left Ventricle	heart
6	chr2:30382400-30400600	Weak transcription	Lung	lung
7	chr2:30382400-30400600	Weak transcription	Spleen	Spleen
8	chr2:30383400-30392000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:30383400-30392200	Weak transcription	Thymus	Thymus
10	chr2:30383400-30393400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:30383400-30395200	Weak transcription	Fetal Heart	heart
12	chr2:30383600-30400800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30384600-30392600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:30386200-30392600	Weak transcription	Fetal Brain Female	brain
15	chr2:30388400-30395400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:30388400-30401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:30388800-30401400	Weak transcription	HSMMtube	muscle
18	chr2:30388800-30407200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:30390800-30393400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:30390800-30399200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:30391600-30392000	Enhancers	Adipose Nuclei	Adipose
22	chr2:30391600-30392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:30391800-30392200	Enhancers	Fetal Lung	lung

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