Variant report

Variant	rs56015540
Chromosome Location	chr12:12661234-12661235
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11833012	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312912	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377986	1.00[ASN][1000 genomes]
rs4529965	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763288	1.00[ASN][1000 genomes]
rs4763289	1.00[ASN][1000 genomes]
rs73063421	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063424	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063430	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063437	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12663600	Weak transcription	Lung	lung
5	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:12647000-12661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
11	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:12658200-12661800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:12658200-12662800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:12658400-12662000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:12658400-12662600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:12658400-12662800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:12658800-12662200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:12658800-12662600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:12659000-12662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:12659000-12667000	Weak transcription	Fetal Thymus	thymus
21	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:12659200-12661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:12659400-12661400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:12659400-12663800	Enhancers	Brain Angular Gyrus	brain
25	chr12:12659400-12665200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:12659600-12662000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:12659600-12662800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:12659600-12663200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:12659600-12663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:12659600-12664000	Enhancers	NHLF	lung
31	chr12:12659600-12664600	Enhancers	Osteobl	bone
32	chr12:12659600-12665800	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:12659800-12661400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:12659800-12661400	Enhancers	GM12878-XiMat	blood
35	chr12:12659800-12662000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:12659800-12662000	Weak transcription	Stomach Mucosa	stomach
37	chr12:12659800-12662800	Weak transcription	A549	lung
38	chr12:12659800-12663000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:12659800-12664600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:12659800-12664600	Weak transcription	Thymus	Thymus
41	chr12:12659800-12665200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:12659800-12665600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:12659800-12667800	Enhancers	Brain Hippocampus Middle	brain
44	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:12660000-12664400	Enhancers	NHDF-Ad	bronchial
50	chr12:12660000-12664600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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