Variant report

Variant	rs1003816
Chromosome Location	chr7:139653612-139653613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034791	0.85[CHB][hapmap]
rs11762754	0.80[ASN][1000 genomes]
rs1544451	0.85[CHB][hapmap]
rs1557967	0.82[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1557968	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs2107901	0.85[CHB][hapmap]
rs2190087	0.85[CHB][hapmap]
rs2284207	0.85[CHB][hapmap]
rs2284210	0.85[CHB][hapmap]
rs2299894	0.85[CHB][hapmap]
rs3735355	0.83[EUR][1000 genomes]
rs4140996	0.85[CHB][hapmap]
rs4629769	0.85[CHB][hapmap]
rs4725560	0.85[CHB][hapmap]
rs4725563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4726477	0.85[CHB][hapmap]
rs6950008	0.96[ASN][1000 genomes]
rs6958975	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs757760	0.85[CHB][hapmap]
rs886697	0.85[CHB][hapmap]
rs917147	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
2	chr7:139646800-139658600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:139647000-139654800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:139647000-139660600	Weak transcription	K562	blood
5	chr7:139648400-139655200	Weak transcription	Spleen	Spleen
6	chr7:139649800-139658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:139650800-139656400	Weak transcription	Lung	lung
8	chr7:139651400-139662400	Weak transcription	Pancreas	Pancrea
9	chr7:139651400-139670000	Weak transcription	Gastric	stomach
10	chr7:139652000-139668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:139652200-139691600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:139652800-139668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:139653000-139654800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:139653000-139678200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:139653200-139657200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:139653200-139658000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:139653200-139672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:139653200-139678000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:139653400-139654000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:139653400-139654800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:139653400-139659800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:139653400-139676000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:139653600-139654800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:139653600-139655000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:139653600-139655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:139653600-139661600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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