Variant report

Variant	rs11045232
Chromosome Location	chr12:20574818-20574819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10770656	1.00[CHB][hapmap]
rs1444628	0.88[JPT][hapmap]
rs1444641	0.88[JPT][hapmap]

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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20556600-20582400	Weak transcription	Osteobl	bone
2	chr12:20558600-20588000	Weak transcription	HUVEC	blood vessel
3	chr12:20559800-20577800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20566800-20576200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:20568200-20588600	Weak transcription	Small Intestine	intestine
6	chr12:20568600-20588800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:20568600-20595400	Weak transcription	Pancreas	Pancrea
8	chr12:20568800-20579400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:20569000-20577800	Weak transcription	NHDF-Ad	bronchial
10	chr12:20571400-20575200	Weak transcription	Psoas Muscle	Psoas
11	chr12:20572800-20575200	Enhancers	Fetal Intestine Large	intestine
12	chr12:20573200-20577800	Weak transcription	Aorta	Aorta
13	chr12:20573400-20575400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:20573600-20576600	Weak transcription	Right Ventricle	heart
15	chr12:20573800-20576200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
17	chr12:20574000-20576200	Weak transcription	Fetal Kidney	kidney
18	chr12:20574000-20577400	Weak transcription	Hela-S3	cervix
19	chr12:20574200-20575000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:20574400-20575400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:20574800-20575400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:20574800-20575800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:20574800-20576200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:20574800-20576200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:20574800-20576200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:20574800-20576200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:20574800-20576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:20574800-20576400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:20574800-20576800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:20574800-20577800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:20574800-20577800	Weak transcription	Colon Smooth Muscle	Colon

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