Variant report

Variant	rs767628
Chromosome Location	chr2:110320075-110320076
allele	C/T
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:42)

rs_ID	r²[population]
rs11541143	0.82[CHB][hapmap];0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs1560884	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1808722	0.81[EUR][1000 genomes]
rs2043462	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs2060402	0.81[ASN][1000 genomes]
rs2060403	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs28369323	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28544318	0.82[ASN][1000 genomes]
rs28567471	0.80[ASN][1000 genomes]
rs28583991	0.80[ASN][1000 genomes]
rs28588372	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28624186	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2867277	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28853417	0.96[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs34557890	0.82[ASN][1000 genomes]
rs4953760	0.87[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs4953784	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs4953843	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs56364682	0.82[ASN][1000 genomes]
rs56402128	0.82[ASN][1000 genomes]
rs58012425	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61215808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61548546	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6594037	0.87[CHB][hapmap];0.80[CHD][hapmap]
rs6594041	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6705503	0.85[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6716287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723295	0.87[CHB][hapmap]
rs6735752	0.88[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6745809	0.82[ASN][1000 genomes]
rs6752531	0.89[EUR][1000 genomes]
rs6760478	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs717189	0.89[EUR][1000 genomes]
rs72938271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7572991	0.91[MKK][hapmap]
rs7579996	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs892464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919941	0.82[CHB][hapmap]
rs9330316	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9751601	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9751717	0.85[EUR][1000 genomes]
rs9752350	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
2	chr2:110293400-110352200	Weak transcription	Gastric	stomach
3	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
5	chr2:110299600-110320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:110299600-110324200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:110301400-110325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:110301600-110321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:110302000-110333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:110302400-110343000	Weak transcription	Psoas Muscle	Psoas
12	chr2:110303000-110320400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:110304800-110320800	Weak transcription	Fetal Heart	heart
14	chr2:110307200-110322800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
17	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:110309800-110323000	Weak transcription	Aorta	Aorta
19	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
20	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
21	chr2:110310400-110321000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:110310400-110323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:110310400-110323000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:110310400-110337800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:110310400-110338400	Weak transcription	Lung	lung
26	chr2:110310400-110342000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
29	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:110310600-110341400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:110310800-110320200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:110310800-110336800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:110312200-110321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:110312200-110326000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:110312200-110328400	Weak transcription	Ovary	ovary
37	chr2:110313000-110321400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:110313400-110325200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:110313400-110337000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:110313600-110323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:110315200-110322800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:110315400-110324000	Strong transcription	Fetal Stomach	stomach
43	chr2:110316000-110320200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:110316000-110323200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:110316200-110321000	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:110316200-110324000	Weak transcription	Fetal Kidney	kidney
47	chr2:110316400-110320200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:110317000-110321200	Strong transcription	Placenta	Placenta
49	chr2:110317000-110325000	Strong transcription	Fetal Lung	lung
50	chr2:110317000-110326800	Strong transcription	Fetal Muscle Trunk	muscle

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