Variant report

Variant	rs1635474
Chromosome Location	chr5:142622669-142622670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142618037..142621776-chr5:142622576..142626628,5	K562	blood:
2	chr5:142614986..142618525-chr5:142619164..142623308,4	K562	blood:
3	chr5:142615820..142618020-chr5:142622200..142624463,2	K562	blood:
4	chr5:142575935..142578121-chr5:142621635..142624220,2	K562	blood:

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

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

rs_ID	r²[population]
rs190488	0.82[EUR][1000 genomes]
rs258750	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs258753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258756	0.87[AFR][1000 genomes]
rs258813	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs258814	0.81[EUR][1000 genomes]
rs2918416	0.80[ASN][1000 genomes]
rs2918417	0.82[ASN][1000 genomes]
rs2963149	0.82[ASN][1000 genomes]
rs2963153	0.80[ASN][1000 genomes]
rs6188	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs852975	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs852977	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs852979	0.80[EUR][1000 genomes]
rs853154	0.96[ASN][1000 genomes]
rs853177	0.91[ASN][1000 genomes]
rs853178	0.91[ASN][1000 genomes]
rs860457	0.80[EUR][1000 genomes]
rs860465	0.91[ASN][1000 genomes]
rs862489	0.91[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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142603600-142628400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:142613000-142623000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:142614000-142623400	Weak transcription	Fetal Lung	lung
4	chr5:142618800-142628400	Weak transcription	Left Ventricle	heart
5	chr5:142619200-142624000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:142619600-142623200	Enhancers	NHLF	lung
7	chr5:142619600-142626400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:142620000-142623200	Weak transcription	K562	blood
9	chr5:142620000-142626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:142620200-142622800	Weak transcription	Aorta	Aorta
11	chr5:142620200-142622800	Weak transcription	Fetal Stomach	stomach
12	chr5:142620200-142623200	Weak transcription	HepG2	liver
13	chr5:142620200-142628200	Weak transcription	Liver	Liver
14	chr5:142620800-142623400	Weak transcription	Right Atrium	heart
15	chr5:142621200-142622800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:142621200-142622800	Enhancers	NHEK	skin
17	chr5:142621400-142623200	Enhancers	NHDF-Ad	bronchial
18	chr5:142621400-142623200	Enhancers	Osteobl	bone
19	chr5:142621400-142624800	Enhancers	HUVEC	blood vessel
20	chr5:142621400-142626400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:142621600-142623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:142621600-142623200	Enhancers	NH-A	brain
23	chr5:142621600-142623400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:142621600-142626400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:142621800-142623200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:142621800-142623200	Enhancers	HSMM	muscle
27	chr5:142621800-142625000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:142621800-142626600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:142622000-142623400	Enhancers	HSMMtube	muscle
30	chr5:142622000-142623600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:142622200-142622800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:142622200-142623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:142622200-142623400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:142622200-142624200	Enhancers	Stomach Mucosa	stomach
35	chr5:142622400-142622800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:142622400-142623600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:142622400-142623600	Enhancers	Fetal Muscle Leg	muscle
38	chr5:142622400-142624400	Enhancers	Psoas Muscle	Psoas
39	chr5:142622400-142624600	Flanking Active TSS	HMEC	breast
40	chr5:142622400-142625000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:142622600-142623800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:142622600-142624400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:142622600-142624800	Flanking Active TSS	Hela-S3	cervix
44	chr5:142622600-142626200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:142622600-142626400	Flanking Active TSS	A549	lung

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