Variant report

Variant	rs34527376
Chromosome Location	chr2:112755699-112755700
allele	A/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:82)

rs_ID	r²[population]
rs10192602	1.00[ASN][1000 genomes]
rs10195619	1.00[ASN][1000 genomes]
rs10496439	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10864895	1.00[ASN][1000 genomes]
rs1122970	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673729	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11674226	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11674883	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11674891	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675946	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678522	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11679593	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11679801	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680463	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11681063	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682629	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683694	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11684321	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11685190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686647	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11687451	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11692445	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12995767	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13001162	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13003919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006203	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006228	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13013340	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13013943	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13020304	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020353	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025651	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13027171	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033393	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17174697	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17779482	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1967530	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271701	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871876	0.85[EUR][1000 genomes]
rs34128716	0.80[EUR][1000 genomes]
rs34240639	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34705448	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34875611	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928784	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34974369	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34983493	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35189728	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35379879	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35382200	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35471545	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643003	0.94[EUR][1000 genomes]
rs35757708	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3761699	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3811633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264571	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4441478	0.80[ASN][1000 genomes]
rs4848229	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4848238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848241	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848861	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4848874	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4848899	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4848971	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4848973	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56361454	0.80[ASN][1000 genomes]
rs6541942	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6716528	0.83[AMR][1000 genomes]
rs6731215	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736093	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6743523	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754526	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755101	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71414616	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7349221	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7370418	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74182850	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7578435	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595212	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7604403	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870761	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870763	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112718400-112776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:112723400-112758400	Weak transcription	Dnd41	blood
4	chr2:112723400-112789200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:112726200-112767600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:112730800-112770400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:112732600-112771200	Strong transcription	Liver	Liver
8	chr2:112733200-112789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:112740400-112768400	Weak transcription	Colonic Mucosa	Colon
10	chr2:112741400-112777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:112741400-112777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:112741600-112761800	Weak transcription	Small Intestine	intestine
13	chr2:112742000-112761200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:112742000-112776800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:112742400-112765800	Weak transcription	Placenta	Placenta
16	chr2:112742600-112761600	Weak transcription	Esophagus	oesophagus
17	chr2:112743000-112758000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:112744200-112777000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:112744200-112777200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:112744400-112767800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:112744600-112757000	Weak transcription	Fetal Kidney	kidney
22	chr2:112744600-112774000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:112745800-112756200	Strong transcription	Brain Anterior Caudate	brain
24	chr2:112746200-112761800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:112748600-112757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:112749000-112756200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:112749200-112756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:112749400-112755800	Strong transcription	Aorta	Aorta
29	chr2:112751000-112756200	Strong transcription	Ovary	ovary
30	chr2:112751400-112755800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:112751400-112756200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:112751400-112756200	Strong transcription	Fetal Stomach	stomach
33	chr2:112751400-112756800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:112751600-112756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:112751600-112759400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:112751800-112756000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:112751800-112757800	Strong transcription	Left Ventricle	heart
38	chr2:112752400-112757800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:112752600-112755800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:112752600-112756400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:112752600-112756400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:112752600-112759400	Weak transcription	Fetal Heart	heart
43	chr2:112753000-112761200	Weak transcription	Lung	lung
44	chr2:112753000-112784000	Weak transcription	Fetal Lung	lung
45	chr2:112753200-112757200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:112753200-112761400	Weak transcription	Stomach Mucosa	stomach
47	chr2:112753400-112756000	Strong transcription	Fetal Intestine Small	intestine
48	chr2:112753400-112761200	Weak transcription	Pancreas	Pancrea
49	chr2:112753600-112761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:112753600-112771600	Strong transcription	HepG2	liver

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