Variant report

Variant	rs12466705
Chromosome Location	chr2:211423777-211423778
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	chr2:211423706..211424704-chrX:49040858..49041500,2	Hela-S3	cervix:
2	chr19:1491056..1491638-chr2:211423206..211423879,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000115255	Chromatin interaction
ENSG00000012211	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10490318	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10804183	0.81[CHB][hapmap]
rs10804184	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10804185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888506	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11889228	0.81[CHB][hapmap]
rs12463895	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12468052	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12611623	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619519	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13031561	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16844534	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17771664	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17772042	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17822981	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17824552	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287424	0.81[CHB][hapmap]
rs2287429	0.81[CHB][hapmap]
rs2287431	0.81[CHB][hapmap]
rs2287432	0.81[CHB][hapmap]
rs2370949	0.81[CHB][hapmap]
rs28485712	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2887899	0.91[CHB][hapmap]
rs3755184	0.81[CHB][hapmap]
rs3845633	0.81[CHB][hapmap]
rs3856339	0.81[CHB][hapmap]
rs4372818	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56098529	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6711129	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6725303	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725770	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725979	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6729280	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6752320	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs725379	0.81[CHB][hapmap]
rs72932418	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72932421	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932424	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932427	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72932430	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932437	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932439	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932447	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72932449	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72934320	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72934330	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72934339	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72934370	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7594883	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211416800-211425800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:211418200-211424400	Genic enhancers	Fetal Intestine Large	intestine
3	chr2:211418600-211443200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211419600-211423800	Enhancers	Fetal Intestine Small	intestine
5	chr2:211421200-211424600	Active TSS	Hela-S3	cervix
6	chr2:211421200-211425400	Active TSS	Liver	Liver
7	chr2:211421600-211423800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:211422000-211424600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:211422400-211423800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:211422600-211427800	Weak transcription	Fetal Kidney	kidney
11	chr2:211423000-211426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:211423200-211424200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:211423400-211423800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:211423400-211423800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:211423400-211423800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:211423400-211424000	Enhancers	NHDF-Ad	bronchial
17	chr2:211423400-211424200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:211423400-211424200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:211423600-211424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:211423600-211432600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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