Variant report

Variant	rs11588048
Chromosome Location	chr1:97811574-97811575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97792800..97795553-chr1:97810091..97812970,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11580977	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11582179	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12738091	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12739046	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12740800	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12754968	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12756826	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2152878	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34011849	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448971	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35398836	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35675942	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35767735	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4949947	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4950030	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6685859	1.00[JPT][hapmap]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11588048	GPR88	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97781600-97822200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:97789800-97823600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:97791800-97823600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:97792800-97820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
6	chr1:97795600-97823600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:97795600-97830000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:97801200-97822400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:97802200-97823200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:97803200-97843200	Weak transcription	Spleen	Spleen
12	chr1:97804200-97823400	Weak transcription	Esophagus	oesophagus
13	chr1:97805200-97823200	Weak transcription	Fetal Lung	lung
14	chr1:97805800-97816400	Weak transcription	Dnd41	blood
15	chr1:97805800-97846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:97807000-97813800	Weak transcription	Fetal Heart	heart
17	chr1:97807200-97815800	Weak transcription	HSMM	muscle
18	chr1:97807600-97815600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:97808400-97814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:97811400-97814200	Weak transcription	Monocytes-CD14+_RO01746	blood

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