Variant report

Variant	rs11744226
Chromosome Location	chr5:60410899-60410900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052753	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10054247	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10055076	0.81[EUR][1000 genomes]
rs10056472	0.81[AFR][1000 genomes]
rs10069718	0.85[EUR][1000 genomes]
rs10075959	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10076568	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10939894	0.81[AFR][1000 genomes]
rs10939895	0.81[AFR][1000 genomes]
rs11741431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745179	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11745233	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11745696	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11747588	0.81[AFR][1000 genomes]
rs11750566	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11949390	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11954384	0.87[EUR][1000 genomes]
rs13163684	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13179814	1.00[YRI][hapmap]
rs13181515	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13181517	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13183007	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13183464	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13185516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs13186053	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13190305	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16878519	1.00[YRI][hapmap]
rs28409386	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs295565	0.98[ASN][1000 genomes]
rs34598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34640	0.82[ASN][1000 genomes]
rs35185283	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4647046	1.00[YRI][hapmap]
rs62366231	0.81[AFR][1000 genomes]
rs67749311	0.81[AFR][1000 genomes]
rs72759299	0.81[AFR][1000 genomes]
rs767634	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9291707	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
4	chr5:60396800-60415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:60396800-60420400	Weak transcription	Ovary	ovary
6	chr5:60398400-60416800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:60398400-60418800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:60402800-60420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:60408200-60418600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:60409000-60411000	Weak transcription	Psoas Muscle	Psoas
12	chr5:60409400-60412400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:60409600-60418600	Weak transcription	Fetal Intestine Small	intestine
14	chr5:60409800-60412000	Weak transcription	Fetal Stomach	stomach
15	chr5:60410400-60418800	Weak transcription	Gastric	stomach
16	chr5:60410600-60411200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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