Variant report

Variant	rs977020
Chromosome Location	chr1:160549579-160549580
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	IRF1	chr1:160549176-160549589	K562	blood:	n/a	n/a
2	SPI1	chr1:160549054-160549606	HL-60	blood:	n/a	n/a
3	CUX1	chr1:160548080-160549630	K562	blood:	n/a	n/a
4	SPI1	chr1:160548907-160549678	GM12878	blood:	n/a	n/a
5	MAFF	chr1:160548190-160549641	K562	blood:	n/a	n/a

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];1.00[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]
rs1875766	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]
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]

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160546000-160549800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr1:160546600-160549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:160546800-160549800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:160547000-160549600	Active TSS	Adipose Nuclei	Adipose
5	chr1:160547200-160549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:160547600-160549600	Active TSS	Thymus	Thymus
7	chr1:160548000-160549600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:160548000-160549800	Flanking Active TSS	Dnd41	blood
9	chr1:160548600-160549600	Active TSS	Right Atrium	heart
10	chr1:160548800-160549600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:160548800-160549600	Flanking Active TSS	Fetal Thymus	thymus
12	chr1:160548800-160549600	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:160548800-160550600	Enhancers	Small Intestine	intestine
14	chr1:160549200-160549600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:160549200-160549600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:160549200-160549600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:160549200-160549600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:160549200-160549600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:160549200-160549800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:160549200-160549800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:160549200-160554600	Weak transcription	Liver	Liver
22	chr1:160549400-160549600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:160549400-160549600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:160549400-160549600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:160549400-160549600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:160549400-160549800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:160549400-160549800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:160549400-160549800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:160549400-160549800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:160549400-160549800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:160549400-160549800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:160549400-160549800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:160549400-160550400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:160549400-160550600	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:160549400-160550600	Enhancers	Primary T cells from cord blood	blood
36	chr1:160549400-160551000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:160549400-160552000	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:160549400-160552400	Enhancers	K562	blood

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