Variant report

Variant	rs10911109
Chromosome Location	chr1:172117232-172117233
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	chr1:172114639..172117543-chr1:172117607..172120253,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218612	1.00[JPT][hapmap]
rs10442603	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10489730	0.94[JPT][hapmap]
rs10797719	0.94[JPT][hapmap]
rs10797735	0.94[JPT][hapmap]
rs10797791	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10910966	0.94[JPT][hapmap]
rs10911101	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10911110	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10911111	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs10911112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911116	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10911121	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10911122	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10911123	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10911124	0.94[CEU][hapmap]
rs10911125	0.94[CEU][hapmap]
rs12047492	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12120556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12141278	0.95[EUR][1000 genomes]
rs1475230	0.94[CEU][hapmap]
rs1475231	0.94[CEU][hapmap]
rs1555383	0.94[JPT][hapmap]
rs2038481	0.94[JPT][hapmap]
rs2057302	0.94[JPT][hapmap]
rs2146901	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2181624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2208367	0.94[JPT][hapmap]
rs2295610	0.94[JPT][hapmap]
rs2295611	0.94[JPT][hapmap]
rs2421986	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421987	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3736791	0.94[JPT][hapmap]
rs4076678	0.94[JPT][hapmap]
rs4604727	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs6425599	0.94[JPT][hapmap]
rs6669406	0.94[JPT][hapmap]
rs72719075	0.85[EUR][1000 genomes]
rs7518865	0.94[JPT][hapmap]
rs7530970	0.94[JPT][hapmap]
rs9286842	0.94[JPT][hapmap]

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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172113800-172117800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:172114400-172137000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:172114800-172117800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:172114800-172117800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:172114800-172118200	Enhancers	NHEK	skin
6	chr1:172114800-172123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:172115000-172117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:172115000-172118000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:172115000-172119600	Weak transcription	Ovary	ovary
10	chr1:172115000-172119800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:172115000-172123400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:172115000-172123600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:172115000-172133800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:172115200-172117400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:172115200-172117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:172115200-172117800	Enhancers	Osteobl	bone
17	chr1:172115200-172118000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:172115200-172118800	Enhancers	NHDF-Ad	bronchial
19	chr1:172115200-172119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:172115200-172119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:172115400-172117800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:172115400-172118000	Enhancers	HMEC	breast
23	chr1:172115400-172119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:172115600-172117600	Weak transcription	HUVEC	blood vessel
25	chr1:172115600-172117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:172115600-172132600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:172115800-172117600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:172116000-172123400	Weak transcription	NH-A	brain
29	chr1:172116200-172117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:172116200-172117800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:172116400-172117600	Weak transcription	Fetal Stomach	stomach
32	chr1:172116400-172123200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:172116600-172117600	Weak transcription	Fetal Lung	lung
34	chr1:172116600-172117800	Weak transcription	NHLF	lung
35	chr1:172116800-172117800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:172116800-172123400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:172117200-172119200	Enhancers	Fetal Kidney	kidney

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