Variant report

Variant	rs2724637
Chromosome Location	chr12:11898024-11898025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
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]
rs2724598	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2724602	1.00[EUR][1000 genomes]
rs2856340	1.00[EUR][1000 genomes]
rs57222202	0.91[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:11882400-11899200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:11882400-11902600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:11882400-11903200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:11883800-11906000	Weak transcription	Liver	Liver
7	chr12:11884200-11899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:11885600-11898600	Weak transcription	Primary T cells from cord blood	blood
10	chr12:11885600-11899000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:11885800-11898400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:11886000-11900000	Weak transcription	Colonic Mucosa	Colon
15	chr12:11889800-11901800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:11890000-11902400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:11892400-11898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:11893800-11901200	Enhancers	HMEC	breast
20	chr12:11894400-11898800	Weak transcription	Right Atrium	heart
21	chr12:11894400-11899000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:11894600-11898200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:11894600-11898200	Weak transcription	Gastric	stomach
24	chr12:11894600-11898400	Weak transcription	Pancreas	Pancrea
25	chr12:11894600-11898400	Weak transcription	NH-A	brain
26	chr12:11894600-11898600	Weak transcription	Osteobl	bone
27	chr12:11894600-11898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:11894600-11905200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:11894600-11905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:11894600-11905400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:11894600-11906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:11894600-11908400	Weak transcription	Psoas Muscle	Psoas
33	chr12:11894800-11899200	Weak transcription	HSMM	muscle
34	chr12:11894800-11906000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:11894800-11906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:11895000-11898200	Weak transcription	Small Intestine	intestine
37	chr12:11895000-11899200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:11895000-11906000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:11895000-11906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:11895000-11912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:11895400-11906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:11895600-11908800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:11895800-11901200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:11896000-11906200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:11896200-11899600	Enhancers	Colon Smooth Muscle	Colon
47	chr12:11896200-11900200	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:11896400-11898400	Genic enhancers	Primary B cells from cord blood	blood
49	chr12:11896400-11898400	Genic enhancers	Fetal Thymus	thymus
50	chr12:11896400-11900400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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