Variant report

Variant	rs2472180
Chromosome Location	chr10:38386506-38386507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11011452	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11011461	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548255	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs176877	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176880	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176881	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176886	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176887	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1813028	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1854563	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1985707	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998062	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2008449	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2021649	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023351	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2180412	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2263163	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2384730	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2472173	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2472174	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2472175	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2472176	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2472177	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2472178	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2472181	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2472183	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474563	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2474565	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2474566	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474567	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474568	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474569	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474571	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474572	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2474574	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474575	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474579	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474580	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2474581	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2474584	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474586	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474587	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474588	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474590	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2474594	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474595	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474598	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2474599	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2504140	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504142	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2504143	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2504148	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504149	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2505186	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505187	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505188	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505189	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2505191	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505193	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505194	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2505195	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2505196	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505197	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505198	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2505237	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2505241	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2505248	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2505259	0.82[EUR][1000 genomes]
rs2505260	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2983343	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71491246	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9299760	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs932538	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9417297	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9418322	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
7	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv6465	chr10:38377662-38422125	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2472180	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs2472180	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL
rs2472180	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38384000-38388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:38384200-38389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:38384200-38389200	Weak transcription	Aorta	Aorta
4	chr10:38384400-38386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:38384400-38388200	Weak transcription	Psoas Muscle	Psoas
6	chr10:38384400-38388800	Weak transcription	Fetal Intestine Small	intestine
7	chr10:38384400-38389200	Weak transcription	Small Intestine	intestine
8	chr10:38384400-38389400	Weak transcription	Thymus	Thymus
9	chr10:38384400-38396400	Weak transcription	HUVEC	blood vessel
10	chr10:38384600-38386600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:38384600-38386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:38384600-38386800	Strong transcription	Fetal Lung	lung
13	chr10:38384600-38387800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:38384600-38388000	Strong transcription	Placenta	Placenta
15	chr10:38384600-38388000	Weak transcription	NHLF	lung
16	chr10:38384600-38388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:38384600-38388200	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:38384600-38388600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr10:38384600-38388600	ZNF genes & repeats	A549	lung
20	chr10:38384600-38388600	Strong transcription	NH-A	brain
21	chr10:38384600-38388800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:38384600-38389200	Weak transcription	Esophagus	oesophagus
23	chr10:38384600-38390600	Weak transcription	Fetal Heart	heart
24	chr10:38384600-38390800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:38384600-38390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:38384600-38391200	Weak transcription	Colonic Mucosa	Colon
27	chr10:38384600-38391400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:38384600-38391400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:38384600-38391400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:38384600-38391800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:38384600-38392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:38384600-38392800	Weak transcription	Gastric	stomach
33	chr10:38384800-38386600	Strong transcription	Fetal Stomach	stomach
34	chr10:38384800-38386800	Weak transcription	Brain Angular Gyrus	brain
35	chr10:38384800-38387000	Strong transcription	Fetal Intestine Large	intestine
36	chr10:38384800-38387200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:38384800-38387400	Strong transcription	HMEC	breast
38	chr10:38384800-38387600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:38384800-38387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr10:38384800-38387800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:38384800-38387800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:38384800-38387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:38384800-38387800	Strong transcription	Osteobl	bone
44	chr10:38384800-38388200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:38384800-38388200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr10:38384800-38388400	Strong transcription	Brain Hippocampus Middle	brain
47	chr10:38384800-38388600	Strong transcription	Brain Substantia Nigra	brain
48	chr10:38384800-38388600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:38384800-38388600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr10:38384800-38388600	Strong transcription	K562	blood

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