Variant report

Variant	rs62193305
Chromosome Location	chr2:233679166-233679167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10176930	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178713	0.88[AMR][1000 genomes]
rs10190211	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10207739	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209575	0.86[EUR][1000 genomes]
rs10933407	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10933408	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11679581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684636	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11687379	0.90[EUR][1000 genomes]
rs11688622	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688691	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11689661	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694434	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11695762	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11904619	0.80[AMR][1000 genomes]
rs12052869	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12328140	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12328151	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12694915	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12694916	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12988087	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992588	0.82[AMR][1000 genomes]
rs13012585	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13035517	0.82[AMR][1000 genomes]
rs13383733	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13386650	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13387762	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13396293	0.90[EUR][1000 genomes]
rs13401578	0.90[ASN][1000 genomes]
rs13408229	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412034	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13412513	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13424896	0.80[AMR][1000 genomes]
rs13425525	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13425918	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13429857	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1446307	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044450	0.86[AMR][1000 genomes]
rs2289914	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289915	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292724	0.88[AMR][1000 genomes]
rs2293782	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305139	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28491817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34063802	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34652626	0.84[AMR][1000 genomes]
rs34832091	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35141217	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35778045	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35785837	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35928329	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41266951	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56054779	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747479	0.90[EUR][1000 genomes]
rs73005582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7557131	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7564554	0.88[EUR][1000 genomes]
rs9288675	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9288676	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9808146	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973586	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
4	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
7	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:233666600-233680000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:233669200-233682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:233669400-233690400	Strong transcription	Dnd41	blood
15	chr2:233669400-233703600	Strong transcription	Liver	Liver
16	chr2:233669600-233682400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:233669600-233686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
19	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:233669800-233681000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:233669800-233686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:233669800-233686400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:233670000-233679400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:233670000-233686200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:233670200-233682400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:233670200-233683200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:233670200-233684000	Strong transcription	GM12878-XiMat	blood
31	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:233670200-233702600	Strong transcription	HepG2	liver
35	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:233670800-233686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:233671000-233682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:233671000-233684800	Strong transcription	NHEK	skin
41	chr2:233671000-233686600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:233671000-233687000	Strong transcription	Fetal Thymus	thymus
43	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
45	chr2:233671200-233680600	Strong transcription	Fetal Intestine Small	intestine
46	chr2:233671200-233681800	Strong transcription	Fetal Stomach	stomach
47	chr2:233671200-233681800	Strong transcription	Thymus	Thymus
48	chr2:233671200-233682000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:233671200-233682000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:233671200-233682800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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