Variant report

Variant	rs16831451
Chromosome Location	chr2:153475804-153475805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10178618	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10185455	0.85[CHD][hapmap]
rs11679491	0.89[ASN][1000 genomes]
rs11883762	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12052946	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13018870	0.90[ASN][1000 genomes]
rs1561267	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16831529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831728	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16831736	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2272535	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293680	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3748941	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3817620	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3845678	0.94[ASN][1000 genomes]
rs4146903	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs4664119	0.90[ASN][1000 genomes]
rs55986999	0.82[ASN][1000 genomes]
rs6710417	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6714218	0.90[ASN][1000 genomes]
rs72858735	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72871129	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72871192	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72872615	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746780	0.86[ASN][1000 genomes]
rs7592127	0.90[ASN][1000 genomes]
rs7604573	0.80[CHD][hapmap];0.81[ASN][1000 genomes]
rs893328	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:153451200-153476200	Weak transcription	Gastric	stomach
3	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
6	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:153464600-153480000	Strong transcription	NHEK	skin
10	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153468000-153480000	Strong transcription	HepG2	liver
12	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:153468200-153477800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:153468600-153479200	Strong transcription	HMEC	breast
17	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
19	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:153468800-153492000	Weak transcription	Liver	Liver
21	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
22	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
23	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
24	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
25	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
26	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:153469600-153479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
29	chr2:153469600-153496800	Weak transcription	HSMM	muscle
30	chr2:153469800-153479000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:153470400-153478800	Strong transcription	Left Ventricle	heart
32	chr2:153470400-153483600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:153470600-153480400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:153470600-153483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:153471400-153478000	Strong transcription	Adipose Nuclei	Adipose
37	chr2:153471400-153478600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:153471400-153478600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:153471400-153482800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:153471600-153477800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:153471600-153478800	Strong transcription	Lung	lung
42	chr2:153471600-153482200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:153472800-153480000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:153473000-153478400	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:153473200-153476400	Strong transcription	Fetal Stomach	stomach
48	chr2:153473200-153478600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:153473200-153479000	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:153473200-153479600	Strong transcription	H1 Cell Line	embryonic stem cell

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