Variant report

Variant	rs17198934
Chromosome Location	chr2:190378371-190378372
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	chr2:190371597..190374886-chr2:190378213..190380643,4	K562	blood:
2	chr2:190306153..190309507-chr2:190376850..190380744,3	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10189190	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10202029	1.00[JPT][hapmap]
rs10206543	1.00[CHB][hapmap]
rs11674773	1.00[JPT][hapmap]
rs11677198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11677494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11680808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11685775	1.00[JPT][hapmap]
rs11691332	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465339	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13007486	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13018571	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13027987	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13029665	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13032311	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1371468	1.00[CHB][hapmap]
rs1371469	1.00[CHB][hapmap]
rs1469967	0.87[AMR][1000 genomes]
rs17198941	1.00[CHB][hapmap]
rs17198955	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17271134	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119070	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35000023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078179	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35209105	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35574177	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4277558	1.00[JPT][hapmap]
rs62184660	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62187110	0.89[AFR][1000 genomes]
rs726093	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190367000-190378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:190371400-190378600	Weak transcription	Psoas Muscle	Psoas
3	chr2:190375600-190380600	Weak transcription	Stomach Mucosa	stomach
4	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:190376400-190378400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:190376400-190382000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:190376800-190379000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190377000-190378800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190377400-190383000	Weak transcription	Fetal Lung	lung
11	chr2:190377600-190378600	Enhancers	Adipose Nuclei	Adipose
12	chr2:190377800-190379600	Weak transcription	Aorta	Aorta
13	chr2:190378000-190379200	Enhancers	Ovary	ovary
14	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum

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