Variant report

Variant	rs4495675
Chromosome Location	chr1:192127637-192127638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:192127305-192127707	HL-60	blood:	n/a	n/a
2	SPI1	chr1:192127323-192127798	HL-60	blood:	n/a	n/a
3	CEBPB	chr1:192127277-192127662	IMR90	lung:	n/a	n/a
4	SPI1	chr1:192127372-192127660	GM12891	blood:	n/a	n/a
5	SPI1	chr1:192127332-192127746	HL-60	blood:	n/a	n/a
6	GABPA	chr1:192127280-192127829	HL-60	blood:	n/a	n/a
7	CEBPB	chr1:192127248-192127677	K562	blood:	n/a	n/a
8	SPI1	chr1:192127377-192127703	GM12891	blood:	n/a	n/a
9	SPI1	chr1:192127388-192127678	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:192127301-192127828	HL-60	blood:	n/a	n/a
11	SPI1	chr1:192127467-192127664	K562	blood:	n/a	n/a
12	RUNX3	chr1:192127318-192127704	GM12878	blood:	n/a	n/a
13	TEAD4	chr1:192127344-192127664	K562	blood:	n/a	n/a
14	CEBPB	chr1:192127264-192127664	K562	blood:	n/a	n/a
15	EP300	chr1:192127569-192127767	GM12878	blood:	n/a	n/a
16	BATF	chr1:192127400-192127663	GM12878	blood:	n/a	chr1:192127421-192127430 chr1:192127521-192127532
17	CEBPB	chr1:192127352-192127663	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS21-1	chr1:192127615-192127656	NONHSAT008527

Variant related genes	Relation type
RGS18	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10754003	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801099	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801100	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921092	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921097	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921099	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921100	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921107	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11581394	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1175170	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1175171	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12034983	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12037701	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12117018	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138354	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1937235	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247566	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247567	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077239	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4128880	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4540639	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618947	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6687273	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7526348	0.87[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[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	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192126800-192128600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:192126800-192130000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:192127000-192129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:192127200-192134200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:192127400-192127800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:192127400-192128400	Enhancers	Primary T cells from cord blood	blood
7	chr1:192127400-192128600	Flanking Active TSS	Dnd41	blood
8	chr1:192127400-192129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:192127400-192129600	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:192127600-192127800	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:192127600-192129000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:192127600-192129200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:192127600-192129200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:192127600-192129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:192127600-192129600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:192127600-192129800	Active TSS	Primary monocytes fromperipheralblood	blood

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