Variant report

Variant	rs6852045
Chromosome Location	chr4:152997872-152997873
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152994631..152998650-chr4:152999260..153001615,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10006527	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10029800	0.81[AMR][1000 genomes]
rs11099841	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11724208	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737270	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11935999	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13130541	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13131963	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2059490	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059493	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696129	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4696313	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6535834	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6823781	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7656585	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7656970	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681486	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7695187	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7695682	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9996858	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6852045	RNF175	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:152989400-153000400	Enhancers	Thymus	Thymus
5	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:152994600-152998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:152995400-153000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:152995400-153000800	Enhancers	Primary T cells from cord blood	blood
10	chr4:152996000-153000000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:152996200-152998400	Enhancers	Dnd41	blood
12	chr4:152996600-153002800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:152996800-153000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:152997400-153011800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:152997600-152998400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:152997600-152998400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:152997600-152998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:152997600-153003400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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