Variant report

Variant	rs17112770
Chromosome Location	chr1:95384905-95384906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12058858	0.88[AMR][1000 genomes]
rs12401925	0.88[AMR][1000 genomes]
rs17112682	0.80[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes]
rs17112728	0.90[AMR][1000 genomes]
rs17112857	1.00[CEU][hapmap]
rs2391390	1.00[CEU][hapmap]
rs3789711	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3860361	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs41497749	0.80[CHB][hapmap];0.94[MEX][hapmap]
rs884821	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9659040	0.88[AMR][1000 genomes]
rs9660177	0.88[AMR][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	nsv947291	chr1:95382933-95393244	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
2	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:95364000-95388600	Weak transcription	Fetal Brain Male	brain
4	chr1:95368400-95388400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:95368400-95390600	Weak transcription	Fetal Thymus	thymus
6	chr1:95369000-95388200	Weak transcription	Fetal Brain Female	brain
7	chr1:95372800-95385000	Weak transcription	Fetal Kidney	kidney
8	chr1:95375800-95385000	Weak transcription	A549	lung
9	chr1:95376400-95385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:95376600-95385000	Weak transcription	NHEK	skin
11	chr1:95377200-95385400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:95378200-95385200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:95378400-95385200	Weak transcription	Placenta	Placenta
14	chr1:95378600-95385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:95378600-95388600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:95379800-95385000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:95379800-95385000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:95379800-95385000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:95380200-95385200	Weak transcription	Gastric	stomach
20	chr1:95381000-95385000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:95381400-95385000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:95381400-95386400	Enhancers	Colon Smooth Muscle	Colon
23	chr1:95381600-95385000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:95381600-95385000	Weak transcription	Spleen	Spleen
25	chr1:95381600-95385200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:95381600-95385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:95381600-95387400	Weak transcription	Psoas Muscle	Psoas
28	chr1:95382000-95385200	Weak transcription	Aorta	Aorta
29	chr1:95382200-95385600	Weak transcription	Fetal Stomach	stomach
30	chr1:95382400-95385000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:95382800-95386000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:95383000-95385200	Enhancers	NH-A	brain
33	chr1:95383200-95385000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:95383200-95386000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:95383400-95388000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr1:95383400-95388000	Enhancers	Ovary	ovary
37	chr1:95383400-95389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:95383600-95385000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:95383600-95385000	Weak transcription	HMEC	breast
40	chr1:95383800-95385000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:95383800-95385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:95383800-95385000	Weak transcription	HSMMtube	muscle
43	chr1:95383800-95385200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:95383800-95386000	Enhancers	Right Ventricle	heart
45	chr1:95384000-95385000	Weak transcription	Right Atrium	heart
46	chr1:95384000-95385200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:95384000-95385200	Weak transcription	Esophagus	oesophagus
48	chr1:95384200-95385200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:95384200-95386800	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:95384400-95386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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