Variant report

Variant	rs4529254
Chromosome Location	chr5:145209035-145209036
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145207703..145209217-chr5:145264749..145267646,2	K562	blood:
2	chr5:145207820..145210884-chr5:145212299..145217868,7	K562	blood:
3	chr5:145206512..145209895-chr5:145210961..145215368,4	MCF-7	breast:
4	chr5:145207166..145210517-chr5:145212091..145218293,8	K562	blood:
5	chr5:145191897..145193671-chr5:145207985..145210429,2	MCF-7	breast:
6	chr2:58199993..58202992-chr5:145207291..145209292,2	K562	blood:

Variant related genes	Relation type
ENSG00000186314	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10052931	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742313	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11951153	0.90[ASN][1000 genomes]
rs1549900	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2029486	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087562	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340044	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs340046	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs340047	0.96[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs394386	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs413654	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs4334931	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4495235	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs453090	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620327	0.89[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs663205	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs681582	0.88[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6870210	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898776	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816435	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704574	0.88[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9716744	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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:50 , 50 per page) page: 1

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	chr5:145174200-145209200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:145177200-145209200	Weak transcription	NH-A	brain
6	chr5:145179400-145209400	Weak transcription	Stomach Mucosa	stomach
7	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
8	chr5:145187000-145209200	Weak transcription	A549	lung
9	chr5:145192800-145209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:145195200-145212800	Weak transcription	Colonic Mucosa	Colon
11	chr5:145196200-145211800	Weak transcription	Gastric	stomach
12	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
13	chr5:145197800-145209200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:145198200-145210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:145198800-145212000	Weak transcription	Aorta	Aorta
17	chr5:145201400-145209400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:145201400-145214200	Weak transcription	Lung	lung
19	chr5:145201800-145210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:145204000-145209200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:145204000-145209600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:145204200-145209200	Weak transcription	Fetal Lung	lung
23	chr5:145204200-145209600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:145205400-145209400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:145207400-145212600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:145207400-145214000	Weak transcription	NHEK	skin
30	chr5:145207600-145209200	Weak transcription	K562	blood
31	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:145208600-145209400	Enhancers	Pancreas	Pancrea
33	chr5:145208600-145209800	Enhancers	Fetal Heart	heart
34	chr5:145208800-145209800	Enhancers	Hela-S3	cervix
35	chr5:145208800-145210400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:145209000-145209200	Enhancers	Small Intestine	intestine
38	chr5:145209000-145209400	Enhancers	Ovary	ovary
39	chr5:145209000-145209800	Enhancers	Fetal Intestine Large	intestine
40	chr5:145209000-145210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:145209000-145210000	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:145209000-145210800	Enhancers	Liver	Liver
43	chr5:145209000-145211000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:145209000-145211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:145209000-145211200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:145209000-145211200	Enhancers	HUVEC	blood vessel
47	chr5:145209000-145211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:145209000-145211600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:145209000-145211600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:145209000-145213400	Enhancers	HepG2	liver

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