Variant report

Variant	rs7588817
Chromosome Location	chr2:182885438-182885439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182602919..182608806-chr2:182883835..182887841,7	MCF-7	breast:
2	chr2:182815537..182821500-chr2:182882210..182887020,9	MCF-7	breast:
3	chr2:182885314..182886019-chr2:182941870..182942703,2	MCF-7	breast:
4	chr2:182882960..182887260-chr2:182931387..182935614,8	MCF-7	breast:
5	chr2:182882713..182885519-chr2:182907947..182910260,2	K562	blood:
6	chr2:182775265..182779288-chr2:182885219..182887763,3	MCF-7	breast:
7	chr2:182884072..182887118-chr2:182924056..182928704,4	MCF-7	breast:
8	chr2:182880540..182889219-chr2:182930483..182937514,17	MCF-7	breast:
9	chr2:182878350..182883617-chr2:182884641..182888824,4	MCF-7	breast:
10	chr2:182746032..182748076-chr2:182883942..182885472,2	MCF-7	breast:
11	chr2:182755546..182763410-chr2:182881457..182887322,14	MCF-7	breast:
12	chr2:182754599..182765670-chr2:182881701..182887661,28	MCF-7	breast:
13	chr2:182884188..182888119-chr2:182990048..182995139,6	MCF-7	breast:
14	chr2:182879005..182882272-chr2:182882883..182886992,5	MCF-7	breast:
15	chr2:182880362..182889935-chr2:182937119..182944893,30	MCF-7	breast:
16	chr2:182885316..182887646-chr2:182929633..182931322,2	MCF-7	breast:
17	chr2:182788506..182790558-chr2:182882645..182885587,2	MCF-7	breast:
18	chr2:182767750..182771715-chr2:182883912..182886743,3	MCF-7	breast:
19	chr2:182885291..182885856-chr2:182941893..182942872,2	MCF-7	breast:
20	chr2:182798416..182800516-chr2:182884535..182886696,2	MCF-7	breast:
21	chr2:182885247..182888264-chr2:182945298..182948359,3	MCF-7	breast:
22	chr2:182880158..182888359-chr2:182937576..182947086,29	MCF-7	breast:
23	chr2:182792850..182795214-chr2:182884772..182886542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221023	Chromatin interaction
ENSG00000150722	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10497591	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10497592	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497593	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105839	1.00[MEX][hapmap]
rs16822346	1.00[MEX][hapmap]
rs16822397	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16822446	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16822453	1.00[MEX][hapmap]
rs16822454	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16822458	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16822460	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs16822482	1.00[MEX][hapmap]
rs58836112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61711545	1.00[AMR][1000 genomes]
rs6750153	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7569843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7608147	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182883000-182886000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:182883000-182886800	Enhancers	Hela-S3	cervix
4	chr2:182883600-182885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182884000-182886000	Enhancers	Fetal Lung	lung
6	chr2:182884400-182886800	Enhancers	Dnd41	blood
7	chr2:182884600-182886000	Enhancers	NH-A	brain
8	chr2:182884800-182885600	Weak transcription	NHLF	lung
9	chr2:182884800-182886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:182884800-182888400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:182885000-182886000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:182885000-182886000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:182885000-182886000	Enhancers	Osteobl	bone
14	chr2:182885000-182886200	Enhancers	Fetal Thymus	thymus
15	chr2:182885200-182885600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:182885200-182885800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:182885200-182885800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:182885200-182885800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:182885200-182885800	Enhancers	NHEK	skin
20	chr2:182885200-182886000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:182885200-182886000	Enhancers	HepG2	liver
22	chr2:182885200-182886000	Enhancers	HMEC	breast
23	chr2:182885400-182885600	Enhancers	HSMM	muscle
24	chr2:182885400-182886000	Enhancers	Stomach Mucosa	stomach

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