Variant report

Variant	rs11126998
Chromosome Location	chr2:85978786-85978787
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	CTCF	chr2:85978660-85978810	HEK293	kidney:	n/a	n/a
2	ZNF263	chr2:85978320-85980052	HEK293-T-REx	kidney:	n/a	chr2:85979004-85979013

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:
2	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10172667	1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs1111527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431188	0.80[LWK][hapmap]
rs1356621	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs1356622	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1356623	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs1356624	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1465822	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568310	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2118401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366816	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832007	0.93[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4832008	0.93[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4832190	0.93[CEU][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4832191	0.86[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs732155	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557287	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567852	0.82[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
rs11126998	CAPG	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
4	chr2:85975200-85979400	Enhancers	Fetal Lung	lung
5	chr2:85975600-85979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:85975600-85980000	Enhancers	Brain Substantia Nigra	brain
7	chr2:85975800-85978800	Enhancers	Hela-S3	cervix
8	chr2:85975800-85979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:85975800-85980000	Enhancers	HSMM	muscle
10	chr2:85975800-85980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:85976000-85978800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:85976000-85979600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:85976000-85979800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:85976000-85979800	Enhancers	A549	lung
15	chr2:85976600-85979000	Enhancers	HSMMtube	muscle
16	chr2:85976600-85980200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:85976800-85979000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:85977000-85980000	Weak transcription	Gastric	stomach
19	chr2:85977000-85980200	Weak transcription	Aorta	Aorta
20	chr2:85977400-85980000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:85977600-85978800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:85977600-85979000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:85977600-85979000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:85977600-85979400	Enhancers	NHDF-Ad	bronchial
25	chr2:85977600-85980200	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:85977600-85980200	Enhancers	Left Ventricle	heart
27	chr2:85977600-85980200	Enhancers	Right Ventricle	heart
28	chr2:85977600-85980400	Enhancers	Lung	lung
29	chr2:85977600-85980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr2:85977800-85978800	Enhancers	Esophagus	oesophagus
31	chr2:85977800-85978800	Enhancers	Pancreas	Pancrea
32	chr2:85977800-85979200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:85977800-85979200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:85977800-85979200	Bivalent Enhancer	Placenta	Placenta
35	chr2:85977800-85979200	Enhancers	NHLF	lung
36	chr2:85977800-85979400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr2:85977800-85979600	Enhancers	Right Atrium	heart
38	chr2:85977800-85979600	Enhancers	Spleen	Spleen
39	chr2:85977800-85980200	Enhancers	Brain Angular Gyrus	brain
40	chr2:85977800-85980200	Enhancers	Ovary	ovary
41	chr2:85977800-85980400	Enhancers	Liver	Liver
42	chr2:85977800-85980400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr2:85977800-85980400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr2:85977800-85980400	Bivalent Enhancer	HepG2	liver
45	chr2:85978000-85979000	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr2:85978000-85979200	Enhancers	Brain Anterior Caudate	brain
47	chr2:85978200-85980400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:85978400-85979000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:85978400-85979200	Enhancers	Brain Germinal Matrix	brain
50	chr2:85978400-85979400	Enhancers	Rectal Smooth Muscle	rectum

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