Variant report

Variant	rs10132752
Chromosome Location	chr14:31805095-31805096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10130574	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134212	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10145767	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10147468	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10148707	0.93[ASN][1000 genomes]
rs10149123	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11156668	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627179	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11844036	0.95[EUR][1000 genomes]
rs11850326	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586712	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12883276	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12885363	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886557	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094131	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378851	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378852	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378853	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378857	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28396248	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28505754	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28738723	1.00[EUR][1000 genomes]
rs28791187	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3736918	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3887865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4595710	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981093	0.95[EUR][1000 genomes]
rs4981838	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981840	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5025288	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571408	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571409	0.83[AMR][1000 genomes]
rs7149420	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151153	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7151378	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156569	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158257	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159084	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160175	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161078	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642559	0.93[ASN][1000 genomes]
rs8007411	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008358	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012940	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016487	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942907	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31768000-31805800	Weak transcription	NHEK	skin
3	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
7	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
9	chr14:31782200-31875200	Weak transcription	Gastric	stomach
10	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
11	chr14:31787200-31809200	Weak transcription	NHLF	lung
12	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
14	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:31791600-31806000	Weak transcription	NHDF-Ad	bronchial
16	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:31798200-31807600	Strong transcription	Osteobl	bone
19	chr14:31799200-31805200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr14:31799600-31806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
22	chr14:31799800-31805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:31799800-31805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31799800-31808000	Weak transcription	Lung	lung
25	chr14:31799800-31811800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
28	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
30	chr14:31800000-31806200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:31800400-31807400	Strong transcription	Adipose Nuclei	Adipose
33	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:31800600-31806400	Weak transcription	Primary T cells from cord blood	blood
35	chr14:31800800-31812200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:31801000-31812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:31801000-31812800	Weak transcription	HMEC	breast
38	chr14:31801200-31805800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:31801200-31810200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:31801200-31812600	Weak transcription	Brain Angular Gyrus	brain
41	chr14:31801200-31823400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
43	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
45	chr14:31801600-31805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:31801600-31805600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:31801600-31805800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:31801600-31806000	Weak transcription	HSMM	muscle
49	chr14:31801600-31824000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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