Variant report

Variant	rs28737367
Chromosome Location	chr12:117626749-117626750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11068394	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11068395	0.81[AFR][1000 genomes]
rs11068396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309102	0.84[AFR][1000 genomes];1.00[AMR][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised 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	14 gene(s)	inside rSNPs	diseases
2	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv560346	chr12:117623651-117642113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv560347	chr12:117623651-117643067	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
4	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
5	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
6	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
8	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
9	chr12:117620400-117626800	Weak transcription	Gastric	stomach
10	chr12:117621400-117626800	Weak transcription	Aorta	Aorta
11	chr12:117622400-117626800	Weak transcription	NHDF-Ad	bronchial
12	chr12:117622600-117627000	Weak transcription	Thymus	Thymus
13	chr12:117622800-117626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117622800-117627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:117623200-117627000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:117623400-117626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:117623400-117626800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:117623400-117626800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:117623400-117626800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:117624200-117627000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:117624400-117626800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:117624400-117626800	Weak transcription	HSMMtube	muscle
23	chr12:117624600-117626800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:117624600-117626800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:117625000-117626800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:117625400-117627000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:117625400-117627000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:117625400-117627800	Flanking Active TSS	Liver	Liver
29	chr12:117625600-117626800	Enhancers	Fetal Lung	lung
30	chr12:117625600-117626800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:117625600-117627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:117625800-117626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117625800-117626800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:117625800-117626800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:117625800-117627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:117625800-117628800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:117626000-117626800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117626000-117626800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr12:117626000-117626800	Enhancers	Lung	lung
40	chr12:117626000-117627000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:117626000-117627000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:117626000-117627200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:117626200-117626800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:117626200-117627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:117626200-117627200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:117626200-117628600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:117626200-117628600	Active TSS	Ovary	ovary
48	chr12:117626200-117629000	Active TSS	Brain Angular Gyrus	brain
49	chr12:117626400-117626800	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:117626400-117626800	Enhancers	Fetal Heart	heart

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