Variant report

Variant	rs13388427
Chromosome Location	chr2:11449703-11449704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11449416..11451875-chr2:11454672..11457949,3	K562	blood:
2	chr2:11422735..11425372-chr2:11448792..11450664,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10183373	1.00[AFR][1000 genomes]
rs10201229	1.00[AFR][1000 genomes]
rs10495580	0.91[AFR][1000 genomes]
rs10495581	0.83[AFR][1000 genomes]
rs12329049	0.91[AFR][1000 genomes]
rs13416047	0.84[AFR][1000 genomes]
rs13420367	0.91[AFR][1000 genomes]
rs13431906	0.91[AFR][1000 genomes]
rs1375853	0.84[AFR][1000 genomes]
rs28441302	0.84[AFR][1000 genomes]
rs4267491	0.84[AFR][1000 genomes]
rs55931955	0.83[AFR][1000 genomes]
rs6705981	0.83[AFR][1000 genomes]
rs6748868	0.83[AFR][1000 genomes]
rs7583049	0.83[AFR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv962059	chr2:11447027-11450757	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
4	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
9	chr2:11445800-11449800	Weak transcription	Lung	lung
10	chr2:11446200-11453200	Weak transcription	K562	blood
11	chr2:11446800-11449800	Weak transcription	HMEC	breast
12	chr2:11447000-11449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:11447000-11449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:11447000-11449800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11447000-11449800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
21	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
22	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
24	chr2:11447000-11460000	Weak transcription	Ovary	ovary
25	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
26	chr2:11447200-11449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:11447200-11449800	Weak transcription	Liver	Liver
28	chr2:11447200-11449800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:11447200-11449800	Weak transcription	Osteobl	bone
30	chr2:11447200-11450200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11447200-11450200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:11447200-11450800	Weak transcription	A549	lung
33	chr2:11447200-11451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:11447200-11451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
36	chr2:11447200-11454400	Weak transcription	HSMM	muscle
37	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:11447400-11450200	Weak transcription	NHLF	lung
41	chr2:11447400-11450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:11447400-11451400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:11447600-11449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:11447600-11449800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:11447800-11450800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:11448000-11454400	Weak transcription	NHDF-Ad	bronchial
47	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:11448200-11451400	Weak transcription	Psoas Muscle	Psoas
49	chr2:11448800-11450000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:11449400-11452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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