Variant report

Variant	rs371480
Chromosome Location	chr5:145209816-145209817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145207820..145210884-chr5:145212299..145217868,7	K562	blood:
2	chr5:145206512..145209895-chr5:145210961..145215368,4	MCF-7	breast:
3	chr5:145209353..145211706-chr5:145407093..145409192,2	MCF-7	breast:
4	chr5:145207166..145210517-chr5:145212091..145218293,8	K562	blood:
5	chr5:145191897..145193671-chr5:145207985..145210429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186314	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11745319	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1654166	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs189294	0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs1985684	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009683	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2569010	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2636306	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340048	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35774662	0.89[EUR][1000 genomes]
rs371991	0.90[AFR][1000 genomes]
rs385175	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs386547	0.93[EUR][1000 genomes]
rs387269	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs417215	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]
rs421289	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes]
rs421310	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes]
rs430811	0.93[EUR][1000 genomes]
rs4334932	0.89[EUR][1000 genomes]
rs436465	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs440939	1.00[CEU][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes]
rs441076	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs442708	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs443033	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]
rs4516907	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4518453	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs453355	0.82[EUR][1000 genomes]
rs453811	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[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]
rs620323	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs624380	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6883479	0.82[EUR][1000 genomes]
rs9716435	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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:55 , 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	chr5:145198200-145210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:145198800-145212000	Weak transcription	Aorta	Aorta
11	chr5:145201400-145214200	Weak transcription	Lung	lung
12	chr5:145201800-145210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:145207400-145212600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:145207400-145214000	Weak transcription	NHEK	skin
18	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:145208800-145210400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:145209000-145210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:145209000-145210000	Enhancers	Duodenum Mucosa	Duodenum
23	chr5:145209000-145210800	Enhancers	Liver	Liver
24	chr5:145209000-145211000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:145209000-145211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:145209000-145211200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:145209000-145211200	Enhancers	HUVEC	blood vessel
28	chr5:145209000-145211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:145209000-145211600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:145209000-145211600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:145209000-145213400	Enhancers	HepG2	liver
32	chr5:145209200-145210400	Enhancers	A549	lung
33	chr5:145209200-145211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:145209200-145211000	Enhancers	Fetal Lung	lung
35	chr5:145209200-145211000	Enhancers	NHLF	lung
36	chr5:145209200-145211000	Enhancers	Osteobl	bone
37	chr5:145209200-145211200	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:145209200-145211200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:145209200-145211400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:145209200-145212600	Enhancers	K562	blood
41	chr5:145209400-145210000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:145209400-145210000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr5:145209400-145210000	Enhancers	Stomach Mucosa	stomach
44	chr5:145209400-145210400	Weak transcription	NH-A	brain
45	chr5:145209400-145212800	Weak transcription	Ovary	ovary
46	chr5:145209400-145212800	Weak transcription	Pancreas	Pancrea
47	chr5:145209600-145211200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:145209600-145211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:145209600-145213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:145209800-145210200	Weak transcription	Fetal Heart	heart

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