Variant report

Variant	rs12503636
Chromosome Location	chr4:186529468-186529469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10009169	0.82[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881506	chr4:186309757-186531693	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1023437	chr4:186378601-186532806	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12503636	CLDN22	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186498400-186534000	Weak transcription	Spleen	Spleen
3	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:186511200-186532200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:186513000-186536200	Weak transcription	Right Atrium	heart
7	chr4:186514400-186535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:186514400-186540200	Weak transcription	Ovary	ovary
9	chr4:186515000-186534000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:186519000-186529800	Weak transcription	Osteobl	bone
11	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
16	chr4:186520600-186533000	Weak transcription	Fetal Brain Female	brain
17	chr4:186521200-186530000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:186521200-186542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:186521200-186542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:186521200-186543800	Weak transcription	Brain Anterior Caudate	brain
21	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:186521400-186533400	Weak transcription	Right Ventricle	heart
23	chr4:186521400-186544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:186522200-186529800	Strong transcription	Liver	Liver
26	chr4:186522200-186529800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:186523000-186534000	Weak transcription	Brain Germinal Matrix	brain
28	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:186524000-186532800	Weak transcription	HUVEC	blood vessel
30	chr4:186524200-186536600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:186524200-186541400	Strong transcription	HSMMtube	muscle
32	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:186524800-186531800	Weak transcription	HSMM	muscle
34	chr4:186527000-186529600	Strong transcription	Fetal Intestine Large	intestine
35	chr4:186527200-186542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:186528400-186529600	Weak transcription	Fetal Heart	heart
37	chr4:186528400-186530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:186528400-186532800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:186528400-186533800	Weak transcription	Aorta	Aorta
40	chr4:186528400-186534200	Weak transcription	Gastric	stomach
41	chr4:186528400-186534200	Weak transcription	HepG2	liver
42	chr4:186528400-186537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:186528400-186537800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:186528400-186544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:186528400-186544800	Weak transcription	Lung	lung
46	chr4:186528600-186532800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:186528600-186532800	Weak transcription	Pancreas	Pancrea
48	chr4:186528600-186533800	Weak transcription	Fetal Intestine Small	intestine
49	chr4:186528600-186533800	Weak transcription	Fetal Stomach	stomach
50	chr4:186528600-186533800	Weak transcription	Left Ventricle	heart

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