Variant report

Variant	rs1875766
Chromosome Location	chr1:160550280-160550281
allele	C/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	SPI1	chr1:160550046-160550290	K562	blood:	n/a	n/a
2	SPI1	chr1:160550032-160550359	GM12891	blood:	n/a	n/a
3	CEBPB	chr1:160550189-160550470	HepG2	liver:	n/a	chr1:160550343-160550354 chr1:160550345-160550354
4	SPI1	chr1:160550007-160550362	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:160550203-160550469	K562	blood:	n/a	chr1:160550343-160550354 chr1:160550345-160550354
6	SPI1	chr1:160550017-160550331	GM12891	blood:	n/a	n/a
7	SPI1	chr1:160549966-160550529	HL-60	blood:	n/a	n/a
8	SPI1	chr1:160549949-160550412	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160510071..160512136-chr1:160549726..160552800,3	K562	blood:

Variant related genes	Relation type
CD84	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10737176	0.92[CHB][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10737177	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797079	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797080	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797081	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908787	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs10908788	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs10908795	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11265436	0.96[GIH][hapmap];0.82[TSI][hapmap]
rs11265437	0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11265439	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11265441	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11265448	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072476	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12134393	0.92[CHB][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1408595	0.85[AMR][1000 genomes]
rs1408597	0.85[GIH][hapmap];0.82[TSI][hapmap]
rs1466932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503859	0.82[TSI][hapmap]
rs2055549	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118424	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118425	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147466	0.92[CHB][hapmap];0.85[AMR][1000 genomes]
rs2369722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369724	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2887545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737792	0.92[CHB][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4332357	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565710	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689237	0.82[TSI][hapmap]
rs6690086	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543788	0.96[GIH][hapmap];0.82[TSI][hapmap]
rs7546013	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7550663	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556477	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs977018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160548800-160550600	Enhancers	Small Intestine	intestine
2	chr1:160549200-160554600	Weak transcription	Liver	Liver
3	chr1:160549400-160550400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:160549400-160550600	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:160549400-160550600	Enhancers	Primary T cells from cord blood	blood
6	chr1:160549400-160551000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:160549400-160552000	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:160549400-160552400	Enhancers	K562	blood
9	chr1:160549600-160550400	Enhancers	GM12878-XiMat	blood
10	chr1:160549600-160550600	Enhancers	Thymus	Thymus
11	chr1:160549600-160550800	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:160549600-160550800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:160549600-160551000	Enhancers	Fetal Thymus	thymus
14	chr1:160549600-160551600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:160549600-160551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:160549600-160551600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:160549600-160552000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:160549600-160552000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:160549600-160552000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:160549600-160552000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:160549600-160552400	Enhancers	Fetal Intestine Small	intestine
22	chr1:160549800-160550600	Enhancers	Dnd41	blood
23	chr1:160549800-160550800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:160549800-160551200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:160549800-160551200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:160549800-160551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:160549800-160551800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:160549800-160551800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:160549800-160552000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:160549800-160552000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:160550000-160550600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:160550000-160550600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:160550000-160552000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:160550200-160550400	Enhancers	Adipose Nuclei	Adipose
35	chr1:160550200-160550400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:160550200-160552400	Enhancers	Fetal Intestine Large	intestine

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