Variant report

Variant	rs17651231
Chromosome Location	chr11:93454524-93454525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12793625	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12801458	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12802285	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12803913	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17573753	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs34140012	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35805434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61918484	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17651231	FOLR4	cis	parietal	SCAN
rs17651231	C11orf54	cis	parietal	SCAN
rs17651231	SCARNA9	cis	parietal	SCAN
rs17651231	C11orf54	cis	cerebellum	SCAN
rs17651231	MED17	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:93440200-93460000	Weak transcription	NHLF	lung
5	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
6	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
7	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
8	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
9	chr11:93444000-93455200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
12	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:93446200-93454800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
17	chr11:93447600-93457800	Strong transcription	Liver	Liver
18	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:93448000-93460000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:93448000-93465600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:93448600-93461400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:93448600-93465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:93449000-93462200	Weak transcription	Small Intestine	intestine
24	chr11:93449200-93462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
26	chr11:93449400-93455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:93449400-93455600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:93449400-93458800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:93449400-93461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:93449400-93463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:93449400-93465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:93449600-93455000	Weak transcription	Brain Anterior Caudate	brain
33	chr11:93449600-93457400	Weak transcription	Fetal Brain Female	brain
34	chr11:93449600-93462200	Weak transcription	Spleen	Spleen
35	chr11:93449600-93462400	Weak transcription	Right Ventricle	heart
36	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
37	chr11:93450000-93454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:93450000-93455200	Weak transcription	Left Ventricle	heart
39	chr11:93450000-93458800	Weak transcription	Lung	lung
40	chr11:93450000-93459400	Weak transcription	Aorta	Aorta
41	chr11:93450000-93462200	Weak transcription	Pancreas	Pancrea
42	chr11:93450200-93454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:93450200-93461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:93450200-93461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:93450600-93471800	Weak transcription	Gastric	stomach
46	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:93450800-93458600	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:93450800-93459400	Weak transcription	Osteobl	bone
49	chr11:93451000-93454600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:93451000-93455000	Weak transcription	Ovary	ovary

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