Variant report

Variant	rs2119133
Chromosome Location	chr2:64223526-64223527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12463827	0.81[ASN][1000 genomes]
rs12466966	0.81[ASN][1000 genomes]
rs12990604	0.81[ASN][1000 genomes]
rs13009774	0.81[ASN][1000 genomes]
rs13014781	0.81[ASN][1000 genomes]
rs13025640	0.81[ASN][1000 genomes]
rs34043307	0.81[ASN][1000 genomes]
rs35648996	0.81[ASN][1000 genomes]
rs35810427	0.81[ASN][1000 genomes]
rs35975566	0.81[ASN][1000 genomes]
rs66476638	0.81[ASN][1000 genomes]
rs66650505	0.81[ASN][1000 genomes]
rs72808236	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72808245	1.00[AFR][1000 genomes]
rs72808248	0.81[ASN][1000 genomes]
rs72808254	0.81[ASN][1000 genomes]
rs72808255	0.87[AMR][1000 genomes]
rs72808262	0.81[ASN][1000 genomes]
rs893779	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64194000-64243200	Weak transcription	NHLF	lung
5	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
6	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64203400-64228000	Weak transcription	Ovary	ovary
9	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:64209400-64244800	Weak transcription	HSMM	muscle
13	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:64212800-64228400	Weak transcription	NHEK	skin
15	chr2:64213000-64224200	Weak transcription	A549	lung
16	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
17	chr2:64217200-64227800	Weak transcription	Left Ventricle	heart
18	chr2:64217800-64224000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:64217800-64224200	Weak transcription	Fetal Lung	lung
20	chr2:64217800-64225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:64218800-64224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:64219200-64224200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:64219200-64227800	Weak transcription	Fetal Stomach	stomach
24	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
25	chr2:64219400-64238400	Weak transcription	Gastric	stomach
26	chr2:64221000-64228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:64221400-64228600	Weak transcription	Thymus	Thymus
28	chr2:64221600-64223600	Weak transcription	Fetal Intestine Large	intestine
29	chr2:64221800-64226000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:64222400-64224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:64222400-64228600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:64222400-64230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:64222600-64228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:64222800-64224200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:64223000-64224200	Weak transcription	HepG2	liver

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