Variant report

Variant	rs17286988
Chromosome Location	chr2:173369000-173369001
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10497383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10497384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11883720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11896937	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11897024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs12469788	0.81[CEU][hapmap]
rs1344272	0.93[CEU][hapmap]
rs1574258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17676243	1.00[JPT][hapmap]
rs17676773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17677404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17727678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17727732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17739735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17739946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2178475	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2272498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2293649	0.93[CEU][hapmap]
rs3792255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs3792256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3828342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4619573	0.93[CEU][hapmap];0.83[YRI][hapmap]
rs4972510	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4972511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4972832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6433359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6433360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6715294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6717877	0.82[CEU][hapmap]
rs6728419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6731691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6755605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7564591	0.93[CEU][hapmap]
rs7564654	0.93[CEU][hapmap]
rs7582972	0.93[CEU][hapmap];0.83[YRI][hapmap]
rs7609465	0.93[CEU][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
3	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:173330600-173373200	Strong transcription	NHEK	skin
6	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
10	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:173331000-173373800	Strong transcription	HMEC	breast
14	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:173346400-173371400	Weak transcription	NHLF	lung
20	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
21	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
22	chr2:173349400-173370400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
24	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
25	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
26	chr2:173354000-173370400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:173354200-173369000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:173356800-173369200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:173356800-173369200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
34	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:173357000-173371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:173357000-173371200	Weak transcription	Ovary	ovary
38	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
41	chr2:173357200-173369200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
43	chr2:173357600-173371400	Weak transcription	NH-A	brain
44	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:173359200-173371400	Weak transcription	Lung	lung
47	chr2:173359200-173372400	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:173360400-173371400	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:173360800-173371800	Weak transcription	Thymus	Thymus
50	chr2:173361000-173369200	Weak transcription	Gastric	stomach

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