Variant report

Variant	rs17251667
Chromosome Location	chr5:14769103-14769104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14766810..14770157-chr5:14772222..14775732,5	K562	blood:
2	chr5:14768806..14770667-chr5:14771716..14774525,2	MCF-7	breast:
3	chr5:14766870..14769624-chr5:14872372..14874372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272057	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10513186	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17317417	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17317655	0.82[ASW][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs258360	0.85[CEU][hapmap]
rs55791375	0.94[ASN][1000 genomes]
rs72734707	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937568	0.95[AMR][1000 genomes];0.92[EUR][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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14744600-14775800	Weak transcription	NH-A	brain
3	chr5:14744800-14776000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:14746200-14775800	Weak transcription	Spleen	Spleen
6	chr5:14746600-14776000	Weak transcription	Placenta	Placenta
7	chr5:14749000-14776000	Weak transcription	Esophagus	oesophagus
8	chr5:14751400-14775800	Weak transcription	Pancreas	Pancrea
9	chr5:14752200-14776600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:14753400-14775600	Weak transcription	Lung	lung
11	chr5:14753400-14777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:14753600-14790000	Weak transcription	Ovary	ovary
13	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:14753800-14775800	Weak transcription	Gastric	stomach
15	chr5:14756800-14779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:14756800-14780200	Weak transcription	Fetal Stomach	stomach
17	chr5:14756800-14781200	Weak transcription	Thymus	Thymus
18	chr5:14757400-14775800	Weak transcription	HMEC	breast
19	chr5:14758800-14783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:14761000-14776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:14761000-14777800	Weak transcription	HSMMtube	muscle
23	chr5:14761400-14772200	Weak transcription	Aorta	Aorta
24	chr5:14761400-14772200	Weak transcription	Right Ventricle	heart
25	chr5:14761400-14775800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14761600-14772400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:14761600-14773800	Weak transcription	Fetal Heart	heart
28	chr5:14761600-14776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:14761800-14772800	Weak transcription	Brain Anterior Caudate	brain
30	chr5:14762800-14769600	Strong transcription	Osteobl	bone
31	chr5:14763200-14771400	Weak transcription	Psoas Muscle	Psoas
32	chr5:14763600-14769400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:14764000-14770000	Weak transcription	Fetal Brain Male	brain
34	chr5:14764000-14770600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:14764200-14769400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:14764400-14769400	Strong transcription	Left Ventricle	heart
37	chr5:14765200-14775800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:14766000-14773000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:14766600-14780000	Weak transcription	Fetal Intestine Large	intestine
40	chr5:14767200-14770400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:14768000-14769200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:14768400-14769400	Strong transcription	Fetal Intestine Small	intestine
44	chr5:14768400-14771200	Weak transcription	Fetal Brain Female	brain
45	chr5:14768400-14776000	Weak transcription	Hela-S3	cervix
46	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:14768600-14769200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:14768600-14769200	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:14768600-14769400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:14768600-14769400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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