Variant report

Variant	rs10242744
Chromosome Location	chr7:11579793-11579794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10250564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12112423	0.81[CHD][hapmap]
rs12699211	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12699241	0.82[JPT][hapmap]
rs12699242	0.82[JPT][hapmap]
rs12699243	0.82[JPT][hapmap]
rs12699244	0.82[JPT][hapmap]
rs12699245	0.82[JPT][hapmap]
rs12699246	0.82[JPT][hapmap]
rs62432857	0.93[ASN][1000 genomes]
rs6460821	0.87[ASN][1000 genomes]
rs6980325	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv887609	chr7:11547284-11581121	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv887610	chr7:11548082-11581121	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11564800-11582200	Weak transcription	A549	lung
2	chr7:11565000-11582200	Weak transcription	Fetal Kidney	kidney
3	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
4	chr7:11575600-11582000	Weak transcription	Fetal Brain Female	brain
5	chr7:11576400-11580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:11577200-11580200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:11577400-11581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
9	chr7:11577600-11579800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:11577800-11580600	Enhancers	Fetal Lung	lung
11	chr7:11578000-11581200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:11578200-11581400	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:11578400-11579800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:11578400-11579800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:11578400-11581600	Enhancers	Dnd41	blood
16	chr7:11578600-11580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:11579000-11580200	Enhancers	Adipose Nuclei	Adipose
18	chr7:11579200-11580200	Enhancers	Liver	Liver
19	chr7:11579200-11580600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:11579200-11580800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:11579400-11580000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:11579400-11580200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:11579400-11580200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:11579400-11580200	Flanking Active TSS	HUVEC	blood vessel
25	chr7:11579400-11580400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:11579400-11580400	Enhancers	Hela-S3	cervix
27	chr7:11579400-11580600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:11579400-11580600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:11579400-11580600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:11579400-11580600	Enhancers	HMEC	breast
31	chr7:11579600-11579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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