Variant report

Variant	rs2694908
Chromosome Location	chr12:56939593-56939594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10747768	0.84[EUR][1000 genomes]
rs10876907	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10876908	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11833906	0.83[AFR][1000 genomes]
rs12822071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2638296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2638298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2657887	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2657891	1.00[AFR][1000 genomes]
rs2657904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694905	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2694914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2939305	0.84[EUR][1000 genomes]
rs2939306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4237803	0.92[EUR][1000 genomes]
rs4237804	0.84[EUR][1000 genomes]
rs4313612	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56917000-56958000	Weak transcription	Ovary	ovary
2	chr12:56917200-56956200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:56921400-56956200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:56922400-56956200	Weak transcription	HSMM	muscle
6	chr12:56922400-56959200	Weak transcription	Fetal Kidney	kidney
7	chr12:56923200-56949200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:56923800-56959400	Weak transcription	Aorta	Aorta
9	chr12:56924800-56959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:56925000-56959200	Weak transcription	HSMMtube	muscle
11	chr12:56927600-56946800	Weak transcription	Left Ventricle	heart
12	chr12:56928400-56952400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:56929800-56955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:56931000-56940800	Weak transcription	Lung	lung
15	chr12:56931000-56949600	Weak transcription	Placenta	Placenta
16	chr12:56931400-56956800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:56931400-56959400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:56931600-56939800	Weak transcription	NHDF-Ad	bronchial
19	chr12:56931600-56946000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:56931600-56952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:56931600-56954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:56931600-56955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:56931600-56956200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:56931600-56965000	Weak transcription	Hela-S3	cervix
25	chr12:56931800-56949200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:56931800-56956400	Weak transcription	NHLF	lung
27	chr12:56932200-56959200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:56932400-56939800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:56932800-56943400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:56933200-56940400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:56933200-56959000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:56933200-56959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:56933400-56959200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:56933600-56956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:56933600-56956200	Weak transcription	NH-A	brain
36	chr12:56933800-56941800	Weak transcription	A549	lung
37	chr12:56933800-56948600	Weak transcription	NHEK	skin
38	chr12:56934600-56952600	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:56934600-56955800	Weak transcription	Osteobl	bone
40	chr12:56934800-56946200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:56934800-56948000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:56934800-56955800	Weak transcription	HUVEC	blood vessel
43	chr12:56935600-56959200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:56936000-56946000	Weak transcription	Adipose Nuclei	Adipose
45	chr12:56936000-56952600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:56936200-56940200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:56936200-56956000	Weak transcription	Fetal Lung	lung
48	chr12:56936200-56956200	Weak transcription	Small Intestine	intestine
49	chr12:56937200-56959200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56937600-56952000	Weak transcription	Fetal Stomach	stomach

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