Variant report

Variant	rs16831174
Chromosome Location	chr2:153333513-153333514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10173899	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10179418	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs10180542	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10194603	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10208776	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10432493	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12616906	0.83[ASN][1000 genomes]
rs12693378	1.00[JPT][hapmap]
rs13386403	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs13390698	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs13424038	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13427076	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs16831169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2078444	0.84[ASN][1000 genomes]
rs2346205	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2346209	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2881339	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4143274	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4146259	0.94[JPT][hapmap]
rs4664587	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4664589	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4664590	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58121347	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs59965317	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434059	1.00[JPT][hapmap]
rs6434061	0.82[ASN][1000 genomes]
rs6725661	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737699	0.94[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6747765	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6748954	0.94[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs73002264	0.87[ASN][1000 genomes]
rs73968029	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559217	0.88[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7582984	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586195	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7587794	0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7590207	0.82[ASN][1000 genomes]
rs7592283	0.82[ASN][1000 genomes]
rs7593411	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594969	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7606592	0.82[CHB][hapmap];1.00[JPT][hapmap];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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
3	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:153328600-153334600	Enhancers	Brain Substantia Nigra	brain
6	chr2:153329000-153337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:153329000-153337800	Weak transcription	Fetal Stomach	stomach
8	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153329400-153337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:153329400-153338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:153329600-153333600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:153329600-153337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:153329600-153338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:153329600-153338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:153329600-153340000	Weak transcription	Ovary	ovary
16	chr2:153330200-153337200	Weak transcription	Fetal Kidney	kidney
17	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:153330400-153333600	Enhancers	A549	lung
19	chr2:153330400-153334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:153330800-153334000	Weak transcription	Liver	Liver
21	chr2:153330800-153334600	Enhancers	HepG2	liver
22	chr2:153330800-153336200	Weak transcription	Pancreas	Pancrea
23	chr2:153330800-153337200	Weak transcription	Fetal Lung	lung
24	chr2:153330800-153337200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
26	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:153331200-153337800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:153332200-153334600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:153332400-153334200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:153332400-153334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:153332400-153334400	Enhancers	Brain Angular Gyrus	brain
32	chr2:153332400-153334400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:153332400-153334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:153332400-153334600	Enhancers	NHEK	skin
35	chr2:153332800-153334000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:153332800-153334000	Weak transcription	Hela-S3	cervix
37	chr2:153332800-153334000	Weak transcription	HMEC	breast
38	chr2:153332800-153338000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:153333200-153333800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153333200-153333800	Weak transcription	Psoas Muscle	Psoas
42	chr2:153333200-153335600	Weak transcription	Aorta	Aorta

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