Variant report

Variant	rs2724598
Chromosome Location	chr12:11904685-11904686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10491988	1.00[EUR][1000 genomes]
rs11054431	1.00[EUR][1000 genomes]
rs12303444	1.00[EUR][1000 genomes]
rs12310333	1.00[EUR][1000 genomes]
rs13377661	1.00[EUR][1000 genomes]
rs2710267	1.00[EUR][1000 genomes]
rs2724602	1.00[EUR][1000 genomes]
rs2724637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2856340	1.00[EUR][1000 genomes]
rs57222202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59302227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638501	1.00[AMR][1000 genomes]
rs7133092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7302827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288759	1.00[AMR][1000 genomes]
rs73288792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:11883800-11906000	Weak transcription	Liver	Liver
3	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:11894600-11905200	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11894600-11905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:11894600-11905400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:11894600-11906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:11894600-11908400	Weak transcription	Psoas Muscle	Psoas
12	chr12:11894800-11906000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:11894800-11906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:11895000-11906000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:11895000-11906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:11895000-11912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:11895400-11906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:11895600-11908800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:11896000-11906200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:11897000-11905400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:11897000-11906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:11897000-11906400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:11897000-11908800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:11897200-11905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:11897800-11905200	Weak transcription	Esophagus	oesophagus
27	chr12:11897800-11905400	Weak transcription	Aorta	Aorta
28	chr12:11898400-11905400	Weak transcription	Fetal Brain Male	brain
29	chr12:11898800-11905200	Weak transcription	Fetal Stomach	stomach
30	chr12:11899200-11904800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:11899200-11905200	Weak transcription	Placenta	Placenta
32	chr12:11899200-11905200	Weak transcription	Left Ventricle	heart
33	chr12:11899200-11905600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:11899400-11905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:11899400-11905400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:11899400-11905400	Weak transcription	Gastric	stomach
37	chr12:11899400-11905400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:11899400-11905400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:11899400-11908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:11899400-11908200	Weak transcription	HSMMtube	muscle
41	chr12:11899400-11908400	Weak transcription	HSMM	muscle
42	chr12:11899600-11905200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:11899600-11906000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:11899600-11906800	Weak transcription	NH-A	brain
45	chr12:11900000-11905000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:11900000-11905400	Weak transcription	Osteobl	bone
47	chr12:11900000-11907000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:11900200-11905400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:11900200-11906000	Weak transcription	Right Atrium	heart
50	chr12:11900400-11905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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