Variant report

Variant	rs2253568
Chromosome Location	chr7:99294607-99294608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1818796	0.94[AFR][1000 genomes]
rs1851424	0.88[AFR][1000 genomes]
rs2263421	0.88[AFR][1000 genomes]
rs2687083	0.88[AFR][1000 genomes]
rs2740580	0.88[AFR][1000 genomes]
rs28969397	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:99277000-99295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99291400-99297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:99291400-99297600	Weak transcription	Esophagus	oesophagus
4	chr7:99291400-99298800	Weak transcription	Aorta	Aorta
5	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
6	chr7:99291600-99295600	Weak transcription	Pancreas	Pancrea
7	chr7:99292200-99296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:99292200-99296200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:99292200-99297000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:99292400-99295800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:99292400-99295800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:99292400-99295800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:99292400-99295800	Weak transcription	Stomach Mucosa	stomach
14	chr7:99292400-99296000	Weak transcription	A549	lung
15	chr7:99292400-99296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:99292400-99298600	Enhancers	HepG2	liver
17	chr7:99293200-99295600	Weak transcription	Fetal Intestine Large	intestine
18	chr7:99293600-99296000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:99293600-99297000	Weak transcription	Gastric	stomach
20	chr7:99294200-99301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:99294400-99301400	Weak transcription	Liver	Liver
22	chr7:99294600-99295800	Weak transcription	K562	blood

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