Variant report

Variant	rs12622601
Chromosome Location	chr2:190382243-190382244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190379388..190384195-chr2:190384322..190387858,5	K562	blood:
2	chr2:190378521..190380492-chr2:190380676..190383131,3	MCF-7	breast:
3	chr2:190380308..190383170-chr2:190385325..190387858,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10206543	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677198	1.00[CHB][hapmap]
rs11677494	1.00[CHB][hapmap]
rs11682165	1.00[CHB][hapmap]
rs11694976	1.00[CHB][hapmap]
rs12465339	0.82[CHB][hapmap]
rs12474223	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616162	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622578	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1371469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198934	1.00[CHB][hapmap]
rs17198941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352262	0.81[CEU][hapmap]
rs4145236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508634	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6732419	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751664	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608796	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12622601	COL5A2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:190377400-190383000	Weak transcription	Fetal Lung	lung
4	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:190379600-190382400	Enhancers	K562	blood
6	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
7	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:190380800-190382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190380800-190385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190380800-190385800	Weak transcription	Aorta	Aorta
11	chr2:190380800-190386000	Weak transcription	Stomach Mucosa	stomach
12	chr2:190381000-190383800	Weak transcription	Ovary	ovary
13	chr2:190381800-190385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:190382000-190385800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:190382000-190387200	Weak transcription	Primary monocytes fromperipheralblood	blood

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