Variant report

Variant	rs6869519
Chromosome Location	chr5:79685564-79685565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79684949..79686674-chr5:79697714..79700517,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10433	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs10474621	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474629	1.00[CEU][hapmap];0.93[TSI][hapmap]
rs10942926	0.92[EUR][1000 genomes]
rs1097307	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1097308	0.87[ASN][1000 genomes]
rs1097309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1104243	0.89[EUR][1000 genomes]
rs13354660	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13359253	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1423113	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16877755	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877757	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877760	0.82[AFR][1000 genomes]
rs168938	0.87[ASN][1000 genomes]
rs168939	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs168940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs171596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs171821	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs173599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs174076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs185100	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs187479	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap]
rs192313	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs194541	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2251759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs248995	0.85[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap]
rs248999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs249000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249003	1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs249004	0.92[EUR][1000 genomes]
rs249006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs249016	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs249021	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs249023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs249024	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249030	1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs249032	0.90[EUR][1000 genomes]
rs249033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249037	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs249038	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs249039	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2544591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544592	0.87[ASN][1000 genomes]
rs2544593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2544598	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2544600	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2544604	0.92[EUR][1000 genomes]
rs2547487	0.87[ASN][1000 genomes]
rs259023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259025	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs259026	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259027	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259028	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes]
rs259029	1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs259030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs259032	0.92[EUR][1000 genomes]
rs259033	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs259036	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259039	0.85[CHB][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259040	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259041	0.92[ASN][1000 genomes]
rs259042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259043	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs259044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259046	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259049	1.00[JPT][hapmap]
rs259051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs259053	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2599508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28496723	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28555465	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3096111	0.82[ASN][1000 genomes]
rs394076	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs394170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4704674	0.94[EUR][1000 genomes]
rs557346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6885891	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6898411	1.00[CEU][hapmap]
rs701380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835726	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs835729	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs856765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs856772	0.92[EUR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv965552	chr5:79680761-79686085	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79685000-79685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:79685000-79685600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr5:79685000-79685800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:79685000-79685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:79685000-79685800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:79685200-79685600	Active TSS	Primary B cells from cord blood	blood
7	chr5:79685200-79685600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:79685200-79685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:79685200-79685600	Active TSS	Brain Hippocampus Middle	brain
10	chr5:79685200-79685800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:79685400-79685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:79685400-79685600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:79685400-79685600	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr5:79685400-79685800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:79685400-79685800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:79685400-79686400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:79685400-79686800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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