Variant report

Variant	rs13390766
Chromosome Location	chr2:174124605-174124606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174120483..174122007-chr2:174124282..174126096,2	K562	blood:
2	chr2:174119813..174122007-chr2:174124282..174126096,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1822335	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35608243	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972541	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
4	chr2:174096600-174130800	Weak transcription	Gastric	stomach
5	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
8	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
9	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
10	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:174105000-174133400	Weak transcription	NHLF	lung
13	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:174106600-174125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:174106800-174125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:174106800-174128400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:174107000-174125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:174108200-174128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:174111600-174129000	Weak transcription	Small Intestine	intestine
20	chr2:174111800-174124800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:174111800-174125200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:174113000-174130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:174117600-174129400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:174117800-174126200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:174117800-174129000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:174118000-174128600	Weak transcription	Aorta	Aorta
27	chr2:174118000-174130800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:174118000-174132400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:174118800-174128400	Weak transcription	Lung	lung
30	chr2:174119000-174125400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:174119600-174129400	Weak transcription	Fetal Kidney	kidney
32	chr2:174120000-174128600	Weak transcription	HMEC	breast
33	chr2:174120200-174126800	Weak transcription	NHEK	skin
34	chr2:174120400-174124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:174121000-174127800	Weak transcription	Primary B cells from cord blood	blood
36	chr2:174121200-174124800	Weak transcription	Fetal Stomach	stomach
37	chr2:174121600-174132800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:174121600-174133600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:174122200-174128600	Weak transcription	GM12878-XiMat	blood
40	chr2:174122600-174126800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:174122600-174133200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
43	chr2:174122800-174126400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:174122800-174126400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:174123000-174129000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:174123400-174126400	Strong transcription	NHDF-Ad	bronchial
47	chr2:174123400-174126600	Strong transcription	Osteobl	bone
48	chr2:174123400-174133000	Strong transcription	Liver	Liver
49	chr2:174123400-174133200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:174123400-174133400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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