Variant report

Variant	rs10164458
Chromosome Location	chr2:40677542-40677543
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	chr2:40675723..40677676-chr2:40685084..40687895,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1990610	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs4245783	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4411757	0.85[ASN][1000 genomes]
rs4557029	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4557030	0.80[ASN][1000 genomes]
rs4952414	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4952620	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6544338	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6544339	0.82[EUR][1000 genomes]
rs6719806	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6719986	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6737745	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6749800	0.87[EUR][1000 genomes]
rs7349326	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40663800-40677600	Weak transcription	HSMMtube	muscle
2	chr2:40672200-40678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:40674000-40679600	Enhancers	Fetal Heart	heart
4	chr2:40675200-40680000	Active TSS	Brain Anterior Caudate	brain
5	chr2:40675400-40677800	Active TSS	Brain Angular Gyrus	brain
6	chr2:40675600-40678000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:40675600-40680000	Active TSS	Fetal Brain Female	brain
8	chr2:40676400-40679600	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:40676400-40680200	Active TSS	NHLF	lung
10	chr2:40676600-40678000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40676600-40680000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:40676800-40678000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:40676800-40678000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:40676800-40678200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:40676800-40679600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:40676800-40680000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:40676800-40680200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:40677000-40677600	Active TSS	Primary B cells from cord blood	blood
19	chr2:40677000-40677600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr2:40677000-40677800	Flanking Active TSS	Osteobl	bone
21	chr2:40677000-40678000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr2:40677000-40678600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:40677000-40679400	Active TSS	Fetal Intestine Small	intestine
24	chr2:40677000-40679800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:40677000-40679800	Active TSS	Aorta	Aorta
26	chr2:40677000-40679800	Active TSS	Brain Germinal Matrix	brain
27	chr2:40677000-40679800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:40677000-40680000	Active TSS	Brain Cingulate Gyrus	brain
29	chr2:40677000-40680000	Active TSS	Fetal Kidney	kidney
30	chr2:40677000-40680000	Active TSS	Fetal Stomach	stomach
31	chr2:40677000-40680000	Active TSS	NH-A	brain
32	chr2:40677000-40680000	Active TSS	NHDF-Ad	bronchial
33	chr2:40677000-40680200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:40677200-40677600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:40677200-40677600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr2:40677200-40677600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:40677200-40677600	Active TSS	Brain Hippocampus Middle	brain
38	chr2:40677200-40677600	Flanking Active TSS	Fetal Brain Male	brain
39	chr2:40677200-40677600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr2:40677200-40677600	Enhancers	Psoas Muscle	Psoas
41	chr2:40677200-40677600	Flanking Active TSS	Right Atrium	heart
42	chr2:40677200-40677600	Enhancers	GM12878-XiMat	blood
43	chr2:40677200-40677600	Enhancers	HUVEC	blood vessel
44	chr2:40677200-40677800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:40677200-40677800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:40677200-40677800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:40677200-40677800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:40677200-40677800	Enhancers	Placenta	Placenta
49	chr2:40677200-40677800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr2:40677200-40678000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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