Variant report

Variant	rs6563768
Chromosome Location	chr13:40410174-40410175
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	chr13:40401176..40404650-chr13:40409020..40412707,3	K562	blood:
2	chr13:40408882..40410773-chr13:40419711..40421745,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12865501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555629	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2209234	0.81[ASN][1000 genomes]
rs2324458	0.87[EUR][1000 genomes]
rs3012139	0.81[ASN][1000 genomes]
rs35023159	0.95[ASN][1000 genomes]
rs4379951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4432144	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4447298	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4556674	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4575406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4943703	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4943705	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61955567	0.95[ASN][1000 genomes]
rs6563756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563757	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563758	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563764	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563765	0.94[ASN][1000 genomes]
rs6563766	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7323371	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7325743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336265	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7997407	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs912421	0.86[EUR][1000 genomes]
rs9285137	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9532443	0.87[ASN][1000 genomes]
rs9548943	0.87[ASN][1000 genomes]
rs9548944	0.98[ASN][1000 genomes]
rs9548945	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576905	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576907	0.81[ASN][1000 genomes]
rs9594373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603628	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9603632	0.81[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	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40409000-40410200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:40409000-40410200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:40409000-40410600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:40409200-40410200	Active TSS	Osteobl	bone
5	chr13:40409200-40410600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:40409200-40410800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:40409400-40410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:40409400-40410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:40409400-40411800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:40409400-40412000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:40409400-40412000	Enhancers	HMEC	breast
12	chr13:40409400-40412600	Enhancers	NHEK	skin
13	chr13:40409600-40410200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:40409600-40410800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:40409600-40411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:40409800-40410600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:40410000-40414000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:40410000-40414000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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