Variant report

Variant	rs7557287
Chromosome Location	chr2:85979520-85979521
allele	C/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	ZNF263	chr2:85978320-85980052	HEK293-T-REx	kidney:	n/a	chr2:85979004-85979013

Variant related genes	Relation type
ATOH8	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10172667	0.80[ASN][1000 genomes]
rs1111527	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126998	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356621	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1356622	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1356623	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1356624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1465822	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465823	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473275	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568310	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118401	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366816	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832007	0.83[ASN][1000 genomes]
rs4832008	0.83[ASN][1000 genomes]
rs4832190	0.81[ASN][1000 genomes]
rs4832191	0.83[ASN][1000 genomes]
rs732155	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567852	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7557287	TCF7L1	cis	brain	BrainEAC

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
3	chr2:85975600-85979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:85975600-85980000	Enhancers	Brain Substantia Nigra	brain
5	chr2:85975800-85979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:85975800-85980000	Enhancers	HSMM	muscle
7	chr2:85975800-85980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:85976000-85979600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:85976000-85979800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:85976000-85979800	Enhancers	A549	lung
11	chr2:85976600-85980200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:85977000-85980000	Weak transcription	Gastric	stomach
13	chr2:85977000-85980200	Weak transcription	Aorta	Aorta
14	chr2:85977400-85980000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:85977600-85980200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:85977600-85980200	Enhancers	Left Ventricle	heart
17	chr2:85977600-85980200	Enhancers	Right Ventricle	heart
18	chr2:85977600-85980400	Enhancers	Lung	lung
19	chr2:85977600-85980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:85977800-85979600	Enhancers	Right Atrium	heart
21	chr2:85977800-85979600	Enhancers	Spleen	Spleen
22	chr2:85977800-85980200	Enhancers	Brain Angular Gyrus	brain
23	chr2:85977800-85980200	Enhancers	Ovary	ovary
24	chr2:85977800-85980400	Enhancers	Liver	Liver
25	chr2:85977800-85980400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr2:85977800-85980400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:85977800-85980400	Bivalent Enhancer	HepG2	liver
28	chr2:85978200-85980400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:85978600-85979600	Weak transcription	Psoas Muscle	Psoas
30	chr2:85978600-85980000	Enhancers	Adipose Nuclei	Adipose
31	chr2:85978600-85980400	Weak transcription	Osteobl	bone
32	chr2:85978800-85979600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr2:85978800-85980200	Weak transcription	Esophagus	oesophagus
34	chr2:85978800-85980400	Weak transcription	Pancreas	Pancrea
35	chr2:85978800-85980600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:85978800-85980600	Weak transcription	Hela-S3	cervix
37	chr2:85979000-85980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:85979000-85980000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:85979000-85980200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:85979000-85980200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:85979000-85980200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:85979000-85980600	Weak transcription	HSMMtube	muscle
43	chr2:85979200-85979600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:85979200-85979800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:85979400-85979600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:85979400-85979800	Weak transcription	Fetal Lung	lung
47	chr2:85979400-85979800	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:85979400-85979800	Weak transcription	NHDF-Ad	bronchial
49	chr2:85979400-85980000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:85979400-85980000	Bivalent Enhancer	Rectal Smooth Muscle	rectum

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