Variant report

Variant	rs10045215
Chromosome Location	chr5:95990871-95990872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95985441..95987708-chr5:95989589..95992814,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10067766	0.84[ASN][1000 genomes]
rs10075736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421911	0.84[ASN][1000 genomes]
rs152005	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152014	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152020	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351245	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26482	0.91[ASN][1000 genomes]
rs26483	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26484	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26485	0.87[ASN][1000 genomes]
rs28040	0.87[ASN][1000 genomes]
rs31248	0.88[ASN][1000 genomes]
rs31249	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs31250	0.87[ASN][1000 genomes]
rs4267886	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4590196	0.93[ASN][1000 genomes]
rs6556937	0.91[ASN][1000 genomes]
rs6860934	0.87[ASN][1000 genomes]
rs6897588	0.83[ASN][1000 genomes]
rs7704167	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7705824	0.88[ASN][1000 genomes]
rs7733671	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs10045215	CTC-506B8.1	cis	Whole Blood	GTEx
rs10045215	CAST	cis	Whole Blood	GTEx
rs10045215	CAST	cis	lung	GTEx
rs10045215	CTC-506B8.1	cis	Artery Tibial	GTEx
rs10045215	CTC-506B8.1	cis	Adipose Subcutaneous	GTEx
rs10045215	CAST	cis	Artery Tibial	GTEx
rs10045215	CAST	Cis_1M	lymphoblastoid	RTeQTL
rs10045215	CAST	cis	Esophagus Muscularis	GTEx
rs10045215	CAST	cis	Adipose Subcutaneous	GTEx
rs10045215	CTC-506B8.1	cis	Nerve Tibial	GTEx
rs10045215	CTC-506B8.1	cis	Esophagus Muscularis	GTEx
rs10045215	CAST	cis	Nerve Tibial	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95983200-95994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95984800-95991000	Weak transcription	Psoas Muscle	Psoas
3	chr5:95984800-95991400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:95985400-95992000	Weak transcription	Pancreas	Pancrea
5	chr5:95986000-95991000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:95986000-95991000	Weak transcription	Liver	Liver
7	chr5:95986200-95992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:95986200-95992000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:95986200-95992000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:95986400-95991000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:95986600-95991000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:95986600-95992000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:95988400-95994600	Enhancers	NHEK	skin
14	chr5:95988800-95991400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:95988800-95992000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:95989000-95992000	Weak transcription	Esophagus	oesophagus
17	chr5:95989000-95996200	Weak transcription	Fetal Lung	lung
18	chr5:95989200-95991400	Weak transcription	Fetal Kidney	kidney
19	chr5:95989200-95996400	Weak transcription	Placenta	Placenta
20	chr5:95989400-95991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:95989600-95993000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:95990000-95991000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:95990000-95996400	Enhancers	Hela-S3	cervix
24	chr5:95990200-95991000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:95990200-95991000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:95990200-95993400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:95990200-95994400	Enhancers	HSMM	muscle
28	chr5:95990400-95994400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:95990400-95994600	Enhancers	NHDF-Ad	bronchial
30	chr5:95990600-95992600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:95990600-95995000	Enhancers	HMEC	breast
32	chr5:95990600-95996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:95990800-95991000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:95990800-95991000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:95990800-95991200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:95990800-95991200	Enhancers	Gastric	stomach
37	chr5:95990800-95991400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:95990800-95991400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:95990800-95991400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr5:95990800-95991600	Flanking Active TSS	A549	lung
41	chr5:95990800-95991600	Enhancers	HSMMtube	muscle
42	chr5:95990800-95992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:95990800-95993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:95990800-95993600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:95990800-95993600	Enhancers	HUVEC	blood vessel
46	chr5:95990800-95994000	Enhancers	NHLF	lung
47	chr5:95990800-95994200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:95990800-95994200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:95990800-95994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:95990800-95994200	Enhancers	NH-A	brain

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