Variant report

Variant	rs16872701
Chromosome Location	chr5:74947983-74947984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74915137..74918881-chr5:74947780..74950531,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1004201	0.84[ASN][1000 genomes]
rs10942740	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10942741	0.86[AFR][1000 genomes]
rs11952534	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11953883	1.00[ASN][1000 genomes]
rs1422441	1.00[ASN][1000 genomes]
rs1422442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16872673	0.82[MKK][hapmap]
rs16872696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16872706	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872710	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16872769	1.00[MEX][hapmap]
rs16872814	1.00[MEX][hapmap]
rs1991450	1.00[ASN][1000 genomes]
rs2112348	1.00[ASN][1000 genomes]
rs28376795	0.82[ASN][1000 genomes]
rs28562938	0.82[ASN][1000 genomes]
rs3822587	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4640771	0.91[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap]
rs55817530	1.00[ASN][1000 genomes]
rs55831232	1.00[ASN][1000 genomes]
rs55849961	1.00[ASN][1000 genomes]
rs55885461	1.00[ASN][1000 genomes]
rs56348108	1.00[ASN][1000 genomes]
rs56813297	0.82[ASN][1000 genomes]
rs5744586	1.00[MEX][hapmap]
rs5744687	1.00[MEX][hapmap]
rs57670471	1.00[ASN][1000 genomes]
rs6453138	1.00[MEX][hapmap]
rs6863912	1.00[MEX][hapmap]
rs6867195	1.00[MEX][hapmap]
rs6868205	1.00[GIH][hapmap]
rs6869286	1.00[MEX][hapmap]
rs6880138	1.00[MEX][hapmap]
rs6895148	1.00[ASN][1000 genomes]
rs7715152	0.84[AFR][1000 genomes]
rs7715739	0.83[ASW][hapmap]
rs888785	0.82[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74944800-74952200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:74945800-74950800	Weak transcription	Right Atrium	heart
5	chr5:74946600-74952200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:74946600-74952400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:74947200-74948000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:74947200-74948000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:74947200-74952200	Enhancers	Fetal Heart	heart
10	chr5:74947400-74948000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74947400-74948000	Enhancers	NHEK	skin
12	chr5:74947400-74948800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:74947600-74949800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:74947600-74952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:74947800-74948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:74947800-74948200	Enhancers	Rectal Mucosa Donor 31	rectum

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