Variant report

Variant	rs2731031
Chromosome Location	chr12:105226122-105226123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105224461..105226185-chr12:105230145..105232486,2	K562	blood:
2	chr12:104849993..104852556-chr12:105225356..105227215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10507183	0.95[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs10861280	0.82[EUR][1000 genomes]
rs10861281	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112207	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs11112208	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs11112210	0.85[EUR][1000 genomes]
rs1466718	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.99[ASN][1000 genomes]
rs1494099	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965977	0.99[ASN][1000 genomes]
rs2029736	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047125	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047126	0.82[EUR][1000 genomes]
rs2047127	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453163	0.82[EUR][1000 genomes]
rs2453164	0.82[EUR][1000 genomes]
rs2453169	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2453171	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453172	1.00[ASN][1000 genomes]
rs2468091	0.99[ASN][1000 genomes]
rs2468093	0.99[ASN][1000 genomes]
rs2468095	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs2468096	0.81[EUR][1000 genomes]
rs2468097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468098	0.81[EUR][1000 genomes]
rs2468102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468103	0.82[EUR][1000 genomes]
rs2468104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468107	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2468108	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2468339	0.95[CEU][hapmap]
rs2468341	0.95[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs2468343	0.95[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs2642119	0.82[EUR][1000 genomes]
rs2642120	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2642121	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730294	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs6539169	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs969629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:105219800-105240800	Weak transcription	Gastric	stomach
3	chr12:105220400-105229000	Strong transcription	Liver	Liver
4	chr12:105220400-105239600	Weak transcription	Aorta	Aorta
5	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:105221000-105227000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
10	chr12:105223400-105232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:105223600-105237000	Weak transcription	Rectal Mucosa Donor 29	rectum

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