Variant report

Variant	rs16831028
Chromosome Location	chr2:153241206-153241207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10432492	0.91[MEX][hapmap]
rs10931069	0.80[MEX][hapmap]
rs11674872	0.91[MEX][hapmap];0.82[TSI][hapmap]
rs12466536	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478426	0.91[MEX][hapmap]
rs13402243	1.00[YRI][hapmap]
rs13405341	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13405868	0.82[AFR][1000 genomes]
rs13418521	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13419000	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs16831013	0.81[JPT][hapmap]
rs2345873	0.83[CHD][hapmap];0.90[MEX][hapmap]
rs2345903	0.80[MEX][hapmap]
rs36039059	0.85[AMR][1000 genomes]
rs3762622	0.93[JPT][hapmap]
rs3811577	0.83[MKK][hapmap]
rs3890370	0.83[CHD][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs4528717	0.82[CHD][hapmap]
rs4664103	0.80[MEX][hapmap]
rs4664106	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56095564	0.82[AFR][1000 genomes]
rs6715843	0.80[MEX][hapmap]
rs6737699	0.83[CHD][hapmap]
rs73967855	0.82[AFR][1000 genomes]
rs7593505	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9677380	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
3	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
4	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
5	chr2:153227000-153242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:153233200-153242200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:153233400-153249000	Weak transcription	Gastric	stomach
9	chr2:153233600-153246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:153233800-153245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:153233800-153255400	Weak transcription	NHEK	skin
12	chr2:153235400-153243200	Weak transcription	Stomach Mucosa	stomach
13	chr2:153237400-153246200	Weak transcription	Placenta	Placenta
14	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:153237400-153255400	Weak transcription	HMEC	breast
17	chr2:153237800-153241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:153238000-153241600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:153238200-153241600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:153238200-153241800	Weak transcription	Aorta	Aorta
21	chr2:153238400-153242000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:153238400-153242400	Weak transcription	Fetal Brain Female	brain
23	chr2:153238400-153246400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:153238600-153241600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:153238600-153243400	Weak transcription	Fetal Lung	lung
26	chr2:153238600-153245600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:153238600-153246600	Weak transcription	Ovary	ovary
28	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
29	chr2:153238800-153242200	Weak transcription	Fetal Kidney	kidney
30	chr2:153239000-153241600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:153239000-153241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153239000-153242600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153239200-153243400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:153239400-153242200	Enhancers	NHDF-Ad	bronchial
35	chr2:153239400-153242600	Enhancers	Brain Angular Gyrus	brain
36	chr2:153239600-153242400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:153239800-153241800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:153240000-153242600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:153240200-153243400	Enhancers	HepG2	liver
40	chr2:153240600-153241600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:153240600-153243000	Enhancers	Brain Anterior Caudate	brain
42	chr2:153240600-153243600	Enhancers	Brain Hippocampus Middle	brain
43	chr2:153240600-153244400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:153240800-153241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:153240800-153242800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153240800-153242800	Enhancers	Psoas Muscle	Psoas
47	chr2:153240800-153242800	Enhancers	A549	lung
48	chr2:153240800-153243600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:153240800-153243600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:153240800-153243800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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