Variant report

Variant	rs417215
Chromosome Location	chr5:145211115-145211116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145203763..145206199-chr5:145209923..145212863,2	K562	blood:
2	chr5:145204699..145206468-chr5:145210985..145212863,2	K562	blood:
3	chr5:145209353..145211706-chr5:145407093..145409192,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs104186	0.83[ASW][hapmap];0.82[CHB][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes]
rs11745319	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654166	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189294	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1984956	0.82[CHB][hapmap]
rs1985684	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569010	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636306	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs340033	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs340048	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35774662	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs371480	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs385175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386547	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs387269	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394717	0.85[AFR][1000 genomes]
rs420915	0.82[AFR][1000 genomes]
rs421289	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs421310	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs421582	0.83[AFR][1000 genomes]
rs430811	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334932	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs436465	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs440939	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443033	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs453355	0.82[EUR][1000 genomes]
rs453811	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624380	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs681591	0.82[CHB][hapmap];0.87[LWK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs6883479	0.82[EUR][1000 genomes]
rs9716435	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv19333	chr5:145209035-145213523	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:145170600-145213400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:145172800-145214200	Weak transcription	Right Ventricle	heart
4	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
5	chr5:145195200-145212800	Weak transcription	Colonic Mucosa	Colon
6	chr5:145196200-145211800	Weak transcription	Gastric	stomach
7	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
8	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:145198800-145212000	Weak transcription	Aorta	Aorta
10	chr5:145201400-145214200	Weak transcription	Lung	lung
11	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:145207400-145212600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:145207400-145214000	Weak transcription	NHEK	skin
16	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:145209000-145211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:145209000-145211200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:145209000-145211200	Enhancers	HUVEC	blood vessel
21	chr5:145209000-145211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:145209000-145211600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:145209000-145211600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:145209000-145213400	Enhancers	HepG2	liver
25	chr5:145209200-145211200	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:145209200-145211200	Enhancers	Colon Smooth Muscle	Colon
27	chr5:145209200-145211400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:145209200-145212600	Enhancers	K562	blood
29	chr5:145209400-145212800	Weak transcription	Ovary	ovary
30	chr5:145209400-145212800	Weak transcription	Pancreas	Pancrea
31	chr5:145209600-145211200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:145209600-145211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:145209600-145213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:145209800-145212200	Weak transcription	Fetal Intestine Large	intestine
35	chr5:145209800-145214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:145209800-145214200	Weak transcription	Small Intestine	intestine
37	chr5:145209800-145214200	Weak transcription	Hela-S3	cervix
38	chr5:145210000-145211400	Weak transcription	Stomach Mucosa	stomach
39	chr5:145210400-145211200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:145210400-145211200	Enhancers	NH-A	brain
41	chr5:145210400-145212800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr5:145210400-145213400	Weak transcription	Fetal Heart	heart
43	chr5:145210400-145213600	Weak transcription	A549	lung
44	chr5:145210400-145214000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:145210600-145211400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:145210600-145212000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:145210600-145214400	Weak transcription	Primary T cells from cord blood	blood
48	chr5:145210800-145213000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:145210800-145213600	Weak transcription	NHDF-Ad	bronchial
50	chr5:145210800-145214200	Weak transcription	Liver	Liver

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