Variant report

Variant	rs2016515
Chromosome Location	chr7:18874385-18874386
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:18873987-18875296	SK-N-MC	brain:	n/a	n/a
2	FOXP2	chr7:18874194-18874622	SK-N-MC	brain:	n/a	n/a
3	CEBPB	chr7:18874169-18874619	IMR90	lung:	n/a	chr7:18874265-18874278 chr7:18874255-18874268 chr7:18874257-18874268
4	POLR2A	chr7:18874043-18875219	SK-N-MC	brain:	n/a	n/a
5	TCF7L2	chr7:18874342-18874952	PANC-1	pancreas:	n/a	chr7:18874486-18874500

Variant related genes	Relation type
HDAC9	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10237149	0.83[GIH][hapmap]
rs10237280	0.81[GIH][hapmap]
rs10486314	0.81[GIH][hapmap]
rs11761877	0.83[EUR][1000 genomes]
rs12540774	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699994	0.80[GIH][hapmap]
rs13238389	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs17349860	0.85[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2028015	0.87[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs2073963	0.89[GIH][hapmap]
rs2073964	0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3852256	0.82[EUR][1000 genomes]
rs3852257	0.90[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461385	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6461386	0.87[GIH][hapmap]
rs6461389	0.83[GIH][hapmap]
rs6461394	0.85[GIH][hapmap]
rs6951522	0.81[CEU][hapmap];0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs6951745	0.80[GIH][hapmap]
rs957960	0.87[GIH][hapmap]

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	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18854000-18874400	Weak transcription	Aorta	Aorta
2	chr7:18866800-18885200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18867200-18882400	Weak transcription	Left Ventricle	heart
4	chr7:18868200-18879400	Weak transcription	HSMMtube	muscle
5	chr7:18868800-18887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:18869600-18874400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:18870000-18874400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:18870000-18874400	Weak transcription	Fetal Stomach	stomach
9	chr7:18870000-18874600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:18870000-18874600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:18871600-18874400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:18872000-18874400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:18872000-18874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:18872000-18874800	Weak transcription	NHDF-Ad	bronchial
15	chr7:18874200-18874400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:18874200-18874600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:18874200-18874800	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:18874200-18874800	Enhancers	Fetal Lung	lung
19	chr7:18874200-18875200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:18874200-18875200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:18874200-18875200	Enhancers	Fetal Kidney	kidney
22	chr7:18874200-18875600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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