Variant report

Variant	rs12536946
Chromosome Location	chr7:99349871-99349872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99348892..99351554-chr7:99353145..99355344,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12333983	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161880	0.87[ASN][1000 genomes]
rs2404955	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28878860	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34880695	0.87[ASN][1000 genomes]
rs35909867	0.87[ASN][1000 genomes]
rs35974388	0.87[ASN][1000 genomes]
rs35984428	0.87[ASN][1000 genomes]
rs3735451	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3991809	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58986456	0.89[ASN][1000 genomes]
rs59836234	0.98[ASN][1000 genomes]
rs60153739	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6945984	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6955424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72494458	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv981555	chr7:99346675-99355848	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99339200-99352200	Weak transcription	Left Ventricle	heart
2	chr7:99346200-99350200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:99346400-99350400	Enhancers	HMEC	breast
4	chr7:99346600-99350200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:99346600-99350200	Enhancers	NHEK	skin
6	chr7:99346600-99350400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:99346800-99350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99347800-99350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:99348000-99350800	Enhancers	Fetal Intestine Small	intestine
10	chr7:99348000-99351000	Enhancers	Fetal Intestine Large	intestine
11	chr7:99348000-99351000	Enhancers	Stomach Mucosa	stomach
12	chr7:99348200-99350000	Enhancers	K562	blood
13	chr7:99348200-99351000	Enhancers	HepG2	liver
14	chr7:99348400-99350000	Enhancers	Colon Smooth Muscle	Colon
15	chr7:99348400-99350200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:99348400-99350200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:99348400-99350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:99348600-99350000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:99348600-99350000	Weak transcription	Lung	lung
20	chr7:99348600-99350200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:99349000-99350200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:99349000-99350200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:99349000-99350200	Enhancers	HSMM	muscle
24	chr7:99349000-99350400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:99349000-99350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:99349400-99350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:99349400-99350200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:99349600-99350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:99349600-99350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:99349600-99350000	Flanking Active TSS	A549	lung
31	chr7:99349600-99350200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:99349600-99350200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:99349600-99350200	Enhancers	Colonic Mucosa	Colon
34	chr7:99349600-99350200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:99349600-99350200	Flanking Active TSS	Hela-S3	cervix
36	chr7:99349600-99350400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:99349600-99350400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:99349600-99350800	Enhancers	Esophagus	oesophagus
39	chr7:99349600-99350800	Enhancers	Fetal Lung	lung
40	chr7:99349600-99350800	Enhancers	Pancreas	Pancrea
41	chr7:99349800-99350000	Enhancers	Liver	Liver
42	chr7:99349800-99350000	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:99349800-99350200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr7:99349800-99350400	Weak transcription	Brain Germinal Matrix	brain

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