Variant report

Variant	rs7808554
Chromosome Location	chr7:122410939-122410940
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:13)

rs_ID	r²[population]
rs10228314	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10234934	0.90[AFR][1000 genomes]
rs10236319	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10261207	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10261921	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10263996	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10265082	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11971752	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11977146	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11981227	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6963770	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6969464	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7796794	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1796894	chr7:122406585-122422387	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122405200-122411600	Weak transcription	Fetal Kidney	kidney
2	chr7:122406800-122416000	Weak transcription	Fetal Lung	lung
3	chr7:122407200-122411800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:122407600-122432000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:122408400-122411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:122409600-122411000	Weak transcription	Fetal Heart	heart
7	chr7:122409600-122428000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:122409600-122432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:122409800-122411800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:122410000-122411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:122410200-122411000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:122410200-122411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:122410400-122411800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:122410600-122411000	Enhancers	Esophagus	oesophagus
15	chr7:122410600-122411000	Enhancers	Left Ventricle	heart
16	chr7:122410600-122411000	Enhancers	Psoas Muscle	Psoas
17	chr7:122410600-122411200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:122410600-122411400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:122410800-122411000	Enhancers	Gastric	stomach
20	chr7:122410800-122411000	Enhancers	Lung	lung
21	chr7:122410800-122411000	Enhancers	Pancreas	Pancrea
22	chr7:122410800-122411200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:122410800-122411200	Enhancers	Fetal Muscle Leg	muscle
24	chr7:122410800-122411400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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