Variant report

Variant	rs10130574
Chromosome Location	chr14:31799216-31799217
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]
rs10132752	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134212	0.95[EUR][1000 genomes]
rs10145767	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10147468	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10148707	0.93[ASN][1000 genomes]
rs10149123	0.95[EUR][1000 genomes]
rs11156668	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627179	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11844036	0.95[EUR][1000 genomes]
rs11850326	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586712	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12883276	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12885363	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097814	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094131	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182256	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378851	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378852	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378853	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378857	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28396248	1.00[EUR][1000 genomes]
rs28505754	1.00[EUR][1000 genomes]
rs28738723	1.00[EUR][1000 genomes]
rs28791187	0.95[EUR][1000 genomes]
rs3736918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3887865	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4595710	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981093	0.95[EUR][1000 genomes]
rs4981838	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981840	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5025288	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571408	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571409	0.85[AMR][1000 genomes]
rs7149420	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151153	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7151378	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156569	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158257	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160175	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161078	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642559	0.93[ASN][1000 genomes]
rs8007411	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008358	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012940	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016487	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942907	0.91[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:94 , 50 per page) page: 1 2

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	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
9	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
12	chr14:31782200-31875200	Weak transcription	Gastric	stomach
13	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
14	chr14:31786200-31799400	Weak transcription	Pancreas	Pancrea
15	chr14:31787200-31809200	Weak transcription	NHLF	lung
16	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
18	chr14:31790000-31801000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:31790600-31799400	Weak transcription	Ovary	ovary
20	chr14:31790800-31801000	Weak transcription	HSMMtube	muscle
21	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:31791600-31801000	Weak transcription	HSMM	muscle
23	chr14:31791600-31801200	Weak transcription	Hela-S3	cervix
24	chr14:31791600-31806000	Weak transcription	NHDF-Ad	bronchial
25	chr14:31793000-31800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:31794600-31800400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:31797200-31801000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:31797600-31800600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:31797600-31801800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:31797800-31801200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr14:31798000-31799600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:31798000-31800000	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr14:31798000-31802000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr14:31798200-31799600	Strong transcription	Right Ventricle	heart
37	chr14:31798200-31799800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:31798200-31800800	ZNF genes & repeats	HepG2	liver
39	chr14:31798200-31801400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr14:31798200-31807600	Strong transcription	Osteobl	bone
41	chr14:31798400-31799800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:31798400-31800200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr14:31798400-31804000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:31798600-31799400	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr14:31798600-31799600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr14:31798600-31799600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:31798600-31799600	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr14:31798600-31799600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:31798600-31799600	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr14:31798600-31799600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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