Variant report

Variant	rs2471177
Chromosome Location	chr7:122319068-122319069
allele	A/G
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	MAX	chr7:122318658-122319078	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RPS26P31	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1860858	1.00[AMR][1000 genomes]
rs1860860	1.00[AMR][1000 genomes]
rs2058444	1.00[AMR][1000 genomes]
rs2215666	1.00[AMR][1000 genomes]
rs2215667	1.00[AMR][1000 genomes]
rs2471179	1.00[AMR][1000 genomes]
rs3993668	1.00[AMR][1000 genomes]
rs6466835	1.00[AMR][1000 genomes]
rs6944692	1.00[AMR][1000 genomes]
rs6978244	1.00[AMR][1000 genomes]
rs763877	1.00[AMR][1000 genomes]
rs7788040	1.00[AMR][1000 genomes]
rs7792080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122314800-122322800	Weak transcription	Right Atrium	heart
2	chr7:122315400-122322200	Weak transcription	Fetal Lung	lung
3	chr7:122316600-122319200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:122316600-122319200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:122316600-122320200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:122316800-122320400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:122316800-122320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:122316800-122322800	Weak transcription	Left Ventricle	heart
9	chr7:122317000-122319200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:122317400-122319200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:122317600-122326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:122317600-122327000	Weak transcription	Fetal Stomach	stomach
13	chr7:122317800-122319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:122318400-122319600	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:122318600-122320000	Enhancers	Placenta	Placenta
16	chr7:122318800-122322200	Weak transcription	Gastric	stomach
17	chr7:122318800-122322800	Weak transcription	Pancreas	Pancrea
18	chr7:122318800-122323200	Weak transcription	Lung	lung
19	chr7:122318800-122325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:122319000-122319200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:122319000-122319600	Weak transcription	HepG2	liver
22	chr7:122319000-122319800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:122319000-122320000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:122319000-122322800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:122319000-122324800	Weak transcription	Stomach Mucosa	stomach

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