Variant report

Variant	rs741244
Chromosome Location	chr12:4226888-4226889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10774193	0.98[EUR][1000 genomes]
rs10774197	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes]
rs10848978	0.84[EUR][1000 genomes]
rs10848979	0.86[EUR][1000 genomes]
rs10848981	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10848982	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10848983	0.91[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10848984	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10848985	0.96[EUR][1000 genomes]
rs11062999	0.83[EUR][1000 genomes]
rs11063000	0.83[EUR][1000 genomes]
rs11063002	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063003	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063004	0.91[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11063007	0.86[EUR][1000 genomes]
rs11063008	0.87[EUR][1000 genomes]
rs11063009	0.88[EUR][1000 genomes]
rs12228949	0.83[EUR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs12230013	0.83[EUR][1000 genomes]
rs12579541	0.88[EUR][1000 genomes]
rs12579556	0.88[EUR][1000 genomes]
rs12579813	0.88[EUR][1000 genomes]
rs2003578	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2003579	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2098332	0.81[EUR][1000 genomes]
rs2110592	0.88[EUR][1000 genomes]
rs2160160	0.87[EUR][1000 genomes]
rs2160161	0.88[EUR][1000 genomes]
rs2247533	0.83[EUR][1000 genomes]
rs2358593	0.83[EUR][1000 genomes]
rs2358836	0.88[EUR][1000 genomes]
rs2358837	0.88[EUR][1000 genomes]
rs2724204	0.85[EUR][1000 genomes]
rs3889565	0.82[EUR][1000 genomes]
rs4765769	0.84[EUR][1000 genomes]
rs4766207	0.92[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs4766208	0.87[EUR][1000 genomes]
rs4766209	0.88[EUR][1000 genomes]
rs4766211	0.88[EUR][1000 genomes]
rs58334161	0.88[EUR][1000 genomes]
rs60789908	0.83[EUR][1000 genomes]
rs6489518	0.88[EUR][1000 genomes]
rs7136346	0.88[EUR][1000 genomes]
rs741245	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759306	0.80[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs759312	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967520	0.96[EUR][1000 genomes]
rs7969060	0.83[EUR][1000 genomes]
rs7975418	0.82[AMR][1000 genomes]
rs873613	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9634153	0.88[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4219800-4228000	Enhancers	Fetal Muscle Leg	muscle
2	chr12:4223800-4227200	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:4223800-4227400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:4223800-4227600	Enhancers	Primary T cells from cord blood	blood
5	chr12:4223800-4228000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:4223800-4228200	Enhancers	HMEC	breast
7	chr12:4224000-4227000	Enhancers	Primary B cells from cord blood	blood
8	chr12:4224000-4227000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:4224000-4227400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:4224000-4228800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:4224000-4229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:4224000-4229000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:4224200-4227200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:4224200-4227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:4224200-4228200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:4224200-4228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:4224200-4228800	Enhancers	Fetal Thymus	thymus
18	chr12:4224200-4230000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:4224400-4227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:4224600-4228000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:4224600-4228200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:4224600-4228200	Enhancers	Fetal Intestine Large	intestine
23	chr12:4224600-4229000	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:4224800-4227000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr12:4224800-4227400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:4224800-4228000	Enhancers	Fetal Intestine Small	intestine
27	chr12:4224800-4228000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:4224800-4228200	Enhancers	Fetal Stomach	stomach
29	chr12:4224800-4228200	Enhancers	Spleen	Spleen
30	chr12:4225000-4227000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:4225000-4227200	Enhancers	Esophagus	oesophagus
32	chr12:4225200-4227000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:4225200-4227800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:4225400-4227000	Enhancers	NH-A	brain
35	chr12:4225400-4227200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:4225400-4227200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:4225400-4227200	Enhancers	NHLF	lung
38	chr12:4225400-4227400	Enhancers	Left Ventricle	heart
39	chr12:4225400-4227400	Enhancers	Right Atrium	heart
40	chr12:4225400-4227800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr12:4225400-4228000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:4225600-4227000	Enhancers	Duodenum Mucosa	Duodenum
43	chr12:4225600-4227400	Enhancers	Right Ventricle	heart
44	chr12:4225600-4228800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:4225800-4227400	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:4225800-4227800	Enhancers	Colon Smooth Muscle	Colon
47	chr12:4225800-4227800	Enhancers	Osteobl	bone
48	chr12:4225800-4228000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:4226000-4227000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:4226000-4227000	Enhancers	Fetal Muscle Trunk	muscle

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