Variant report

Variant	rs17505447
Chromosome Location	chr2:171802828-171802829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171783760..171785431-chr2:171802647..171804228,2	MCF-7	breast:
2	chr2:171785826..171787756-chr2:171800851..171803005,2	MCF-7	breast:
3	chr2:171802019..171804408-chr2:171805701..171807588,2	MCF-7	breast:
4	chr2:171784246..171787209-chr2:171797776..171803442,6	MCF-7	breast:
5	chr2:171784925..171787339-chr2:171802152..171804969,3	K562	blood:
6	chr2:171801398..171803038-chr2:171808887..171810560,2	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10930447	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11682957	0.82[JPT][hapmap]
rs11899713	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11904750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12465605	0.84[ASN][1000 genomes]
rs12467411	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12468326	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12473741	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs13410683	0.81[CHB][hapmap]
rs16859026	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16859028	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16859050	0.86[CHB][hapmap]
rs16859076	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859157	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17608242	0.90[EUR][1000 genomes]
rs2059723	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2081767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081768	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098999	0.83[CHB][hapmap]
rs2356422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356424	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3731993	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3755124	0.86[CHB][hapmap]
rs3755126	0.86[CHB][hapmap]
rs3770419	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3770436	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770439	1.00[CEU][hapmap]
rs3886463	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4668343	0.83[CHB][hapmap]
rs4668354	0.83[CHB][hapmap]
rs57556696	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61233426	0.88[ASN][1000 genomes]
rs930035	0.81[CHB][hapmap]
rs964172	0.81[CHB][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:171787400-171806000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:171787400-171806000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:171787400-171806000	Weak transcription	Esophagus	oesophagus
5	chr2:171787400-171806000	Weak transcription	Psoas Muscle	Psoas
6	chr2:171787400-171807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
8	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
9	chr2:171787600-171806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
12	chr2:171787800-171806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:171787800-171806000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:171787800-171806200	Weak transcription	Fetal Kidney	kidney
15	chr2:171787800-171806600	Weak transcription	Fetal Brain Female	brain
16	chr2:171787800-171807000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:171787800-171807400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:171787800-171809200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:171788000-171805800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:171788000-171806000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:171788000-171806000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:171788000-171806200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:171788000-171806600	Weak transcription	Fetal Lung	lung
24	chr2:171788000-171806800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:171788000-171806800	Weak transcription	A549	lung
26	chr2:171788000-171807600	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:171788000-171808400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:171788200-171806200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:171788400-171805400	Weak transcription	HUVEC	blood vessel
30	chr2:171788400-171805600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:171788400-171806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:171789000-171805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:171789400-171805400	Weak transcription	Hela-S3	cervix
34	chr2:171789400-171805800	Weak transcription	Osteobl	bone
35	chr2:171789400-171806000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:171789600-171810000	Weak transcription	Stomach Mucosa	stomach
37	chr2:171790600-171806000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:171791600-171806000	Weak transcription	Lung	lung
39	chr2:171792400-171806000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:171793400-171803600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:171793400-171806000	Weak transcription	Thymus	Thymus
42	chr2:171793400-171806000	Weak transcription	NH-A	brain
43	chr2:171794000-171805400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:171794000-171805400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:171794000-171806000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:171794200-171805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:171794200-171805800	Weak transcription	Placenta	Placenta
48	chr2:171794200-171806000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:171794200-171806000	Weak transcription	Fetal Intestine Small	intestine
50	chr2:171794200-171806000	Weak transcription	Fetal Stomach	stomach

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