Variant report

Variant	rs7581692
Chromosome Location	chr2:39586622-39586623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1012689	0.91[ASN][1000 genomes]
rs10169329	0.81[AFR][1000 genomes]
rs10179302	0.82[AMR][1000 genomes]
rs10185961	0.83[EUR][1000 genomes]
rs10193807	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10196447	0.86[AFR][1000 genomes]
rs10197632	0.84[AFR][1000 genomes]
rs10199948	0.86[AFR][1000 genomes]
rs10865148	0.88[EUR][1000 genomes]
rs10865151	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11124671	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11124672	0.84[AFR][1000 genomes]
rs11124674	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11124675	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11124678	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11124680	0.86[ASN][1000 genomes]
rs11677383	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11677611	0.86[ASN][1000 genomes]
rs11688033	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11688352	0.84[ASN][1000 genomes]
rs12151392	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12162306	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12328727	0.81[ASN][1000 genomes]
rs12618944	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12624242	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12712634	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12712640	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12712642	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12997072	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13015356	0.81[EUR][1000 genomes]
rs13405577	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1861733	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1861734	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2024514	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2058863	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2302749	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2373528	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2888593	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3732053	0.81[AMR][1000 genomes]
rs3755171	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3755172	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3755176	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770662	0.89[ASN][1000 genomes]
rs3770663	0.83[AMR][1000 genomes]
rs3770664	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3770671	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770672	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770674	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4488638	0.81[EUR][1000 genomes]
rs4630750	0.81[AMR][1000 genomes]
rs6544214	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6544215	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6544216	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709424	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6714566	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6719469	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6753014	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7340455	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7421175	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7561630	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7569037	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569492	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7573923	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7582848	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7594145	0.88[ASN][1000 genomes]
rs7595469	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7596222	0.83[AFR][1000 genomes]
rs7597300	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7605427	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7608958	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9037	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9309036	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9309037	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9309038	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9309039	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking 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	35 gene(s)	inside rSNPs	diseases
3	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
7	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
10	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	esv1828851	chr2:39508121-39588797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	esv1806203	chr2:39570427-39588797	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39557000-39586800	Weak transcription	Aorta	Aorta
2	chr2:39572200-39597600	Weak transcription	Osteobl	bone
3	chr2:39579200-39587600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:39582800-39587200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:39583000-39587000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:39584200-39588400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:39584400-39598400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
9	chr2:39584800-39591600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:39585000-39588400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:39585000-39591400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:39585200-39590600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:39585200-39590600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:39585200-39591400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr2:39585400-39587200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:39585400-39588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:39585400-39590200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr2:39585600-39587400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr2:39585600-39588000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr2:39585600-39588400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr2:39585600-39588400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:39585600-39591600	Weak transcription	Fetal Heart	heart
23	chr2:39585800-39586800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:39585800-39587400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:39585800-39588000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr2:39585800-39588400	ZNF genes & repeats	Dnd41	blood
27	chr2:39586000-39586800	ZNF genes & repeats	Esophagus	oesophagus
28	chr2:39586000-39586800	ZNF genes & repeats	K562	blood
29	chr2:39586000-39587000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:39586000-39587800	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr2:39586000-39588000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:39586000-39588000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:39586000-39588000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:39586000-39588000	ZNF genes & repeats	Placenta	Placenta
35	chr2:39586000-39588200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:39586000-39588200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:39586000-39588200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:39586000-39588200	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr2:39586000-39588200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr2:39586000-39588200	ZNF genes & repeats	Fetal Lung	lung
41	chr2:39586000-39588200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr2:39586000-39588200	ZNF genes & repeats	A549	lung
43	chr2:39586000-39588400	ZNF genes & repeats	HepG2	liver
44	chr2:39586000-39590800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr2:39586200-39587000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:39586200-39587000	ZNF genes & repeats	NHEK	skin
47	chr2:39586200-39587200	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr2:39586200-39588000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:39586200-39588000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr2:39586200-39588000	ZNF genes & repeats	Fetal Stomach	stomach

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