Variant report

Variant	rs17122305
Chromosome Location	chr10:91237003-91237004
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	chr10:91235846..91237981-chr10:91253017..91254786,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11203135	0.85[CHB][hapmap]
rs11203136	0.90[CHB][hapmap]
rs11593758	0.84[CHB][hapmap]
rs11594380	0.90[CHB][hapmap]
rs1331147	0.94[CHB][hapmap];0.92[ASN][1000 genomes]
rs17122097	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs17122257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387244	0.84[CHB][hapmap]
rs3740029	0.84[CHB][hapmap]
rs3740030	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56034228	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56086829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56272844	0.83[EUR][1000 genomes]
rs56280029	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56398433	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56908797	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56962658	0.84[EUR][1000 genomes]
rs57304744	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58982954	0.83[EUR][1000 genomes]
rs72816713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72816714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72816718	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816722	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72816723	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72816726	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72816729	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72816736	0.84[EUR][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91226800-91237800	Weak transcription	Stomach Mucosa	stomach
2	chr10:91227000-91237800	Weak transcription	Osteobl	bone
3	chr10:91230800-91237800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:91234000-91237200	Enhancers	Fetal Lung	lung
5	chr10:91234600-91237200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:91234600-91237400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:91234600-91238800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:91234600-91240400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:91234600-91242400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:91234600-91242600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:91234800-91237200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:91235200-91240400	Enhancers	NH-A	brain
13	chr10:91235600-91238800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:91235600-91239200	Enhancers	HMEC	breast
15	chr10:91235600-91239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:91235600-91243400	Enhancers	HSMM	muscle
17	chr10:91235800-91237400	Enhancers	Pancreas	Pancrea
18	chr10:91235800-91237400	Enhancers	Right Atrium	heart
19	chr10:91235800-91237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:91235800-91239000	Enhancers	Left Ventricle	heart
21	chr10:91236000-91237200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:91236000-91238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:91236200-91237200	Enhancers	Liver	Liver
24	chr10:91236200-91237800	Weak transcription	Adipose Nuclei	Adipose
25	chr10:91236200-91237800	Weak transcription	Esophagus	oesophagus
26	chr10:91236400-91237200	Enhancers	Fetal Muscle Trunk	muscle
27	chr10:91236400-91237600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:91236400-91237600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:91236400-91237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:91236400-91237800	Weak transcription	NHDF-Ad	bronchial
31	chr10:91236400-91238000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:91236400-91238000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:91236400-91238000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:91236600-91237200	Enhancers	Colon Smooth Muscle	Colon
35	chr10:91236600-91237400	Enhancers	Stomach Smooth Muscle	stomach
36	chr10:91236600-91237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:91236600-91237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:91236600-91238000	Weak transcription	Aorta	Aorta
39	chr10:91236600-91238000	Weak transcription	NHLF	lung
40	chr10:91236600-91238400	Weak transcription	Brain Substantia Nigra	brain
41	chr10:91236800-91237800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:91236800-91237800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:91236800-91237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:91236800-91237800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:91236800-91237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:91236800-91237800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:91236800-91237800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:91236800-91237800	Weak transcription	Fetal Intestine Large	intestine
49	chr10:91236800-91237800	Weak transcription	Fetal Intestine Small	intestine
50	chr10:91236800-91237800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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