Variant report

Variant	rs13415123
Chromosome Location	chr2:189251125-189251126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10167709	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10169317	0.82[ASN][1000 genomes]
rs10170220	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10174928	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10179504	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10180687	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10180956	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10182377	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10185828	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189376	0.80[ASN][1000 genomes]
rs10192374	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10198025	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199112	0.82[ASN][1000 genomes]
rs10199264	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10202605	0.80[ASN][1000 genomes]
rs10204674	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206167	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206696	0.82[ASN][1000 genomes]
rs10209733	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210696	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10211189	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931355	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931356	0.83[ASN][1000 genomes]
rs10931358	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1125099	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11682085	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151691	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12329399	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12624002	0.81[ASN][1000 genomes]
rs12693498	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12987194	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12990374	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13384413	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13387350	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13388723	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13388746	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13389155	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13389879	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13394421	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13397399	0.80[ASN][1000 genomes]
rs13412312	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13420369	0.82[ASN][1000 genomes]
rs13422246	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13422836	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13423891	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13424536	0.80[ASN][1000 genomes]
rs13426709	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28542209	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28564315	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34209722	0.80[ASN][1000 genomes]
rs34737832	0.80[ASN][1000 genomes]
rs35954758	0.80[ASN][1000 genomes]
rs36070354	0.80[ASN][1000 genomes]
rs3890574	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4261684	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4274570	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4340469	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4349309	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4361092	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4381754	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4398237	0.80[ASN][1000 genomes]
rs4430902	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4433962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4458180	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4476318	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4522565	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4564741	0.80[ASN][1000 genomes]
rs4592814	0.80[ASN][1000 genomes]
rs4640356	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4666758	0.80[ASN][1000 genomes]
rs4667221	0.82[ASN][1000 genomes]
rs4667225	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667226	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667227	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4992744	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55693630	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56072532	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58966470	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58978246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59206116	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60796263	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434280	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66923332	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66971459	0.80[ASN][1000 genomes]
rs6704814	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6706666	0.80[ASN][1000 genomes]
rs67086516	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67092191	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6718999	0.82[ASN][1000 genomes]
rs67240894	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6724867	0.83[ASN][1000 genomes]
rs6725860	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727850	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729182	0.80[ASN][1000 genomes]
rs6732963	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6737728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739162	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6743120	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743636	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6756220	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6759539	0.82[ASN][1000 genomes]
rs6759766	0.82[ASN][1000 genomes]
rs6761769	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761785	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67750782	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67790470	0.81[ASN][1000 genomes]
rs67798410	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67919447	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72907672	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73040452	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7420700	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561448	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7579610	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582137	0.82[ASN][1000 genomes]
rs7593215	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595327	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595377	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606178	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7607063	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9288157	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189245200-189259800	Weak transcription	Gastric	stomach
2	chr2:189247200-189252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:189247200-189252200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:189247600-189251200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:189247600-189253400	Weak transcription	Left Ventricle	heart
6	chr2:189247600-189259800	Weak transcription	Pancreas	Pancrea
7	chr2:189247800-189251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189247800-189252400	Weak transcription	Stomach Mucosa	stomach
9	chr2:189247800-189259600	Weak transcription	Fetal Heart	heart
10	chr2:189248200-189251800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr2:189248200-189253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:189248200-189254800	Weak transcription	HUVEC	blood vessel
13	chr2:189248400-189251200	Weak transcription	NHLF	lung
14	chr2:189248400-189251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:189248400-189253200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:189248400-189255400	Weak transcription	Osteobl	bone
17	chr2:189248600-189251800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:189248800-189251200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr2:189248800-189251200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:189248800-189251200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr2:189248800-189251200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189248800-189251200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189248800-189251200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr2:189248800-189251200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:189249000-189251200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:189249000-189251200	Strong transcription	Fetal Intestine Large	intestine
27	chr2:189249000-189251400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:189249200-189251200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:189249400-189251200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:189249400-189251200	Strong transcription	Ovary	ovary
31	chr2:189250000-189251200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:189250200-189251200	Strong transcription	Placenta	Placenta
33	chr2:189250200-189252600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:189250200-189259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:189250200-189261000	Weak transcription	Fetal Stomach	stomach
36	chr2:189250400-189251200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:189250400-189251200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:189250400-189259600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:189250600-189251200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:189250600-189251200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
41	chr2:189250600-189251200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:189250600-189251200	ZNF genes & repeats	Fetal Lung	lung
43	chr2:189250800-189251200	ZNF genes & repeats	Fetal Kidney	kidney
44	chr2:189251000-189251400	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:189251000-189251600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:189251000-189251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:189251000-189252000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:189251000-189252400	Weak transcription	A549	lung
49	chr2:189251000-189253600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:189251000-189253600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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