Variant report

Variant	rs59077119
Chromosome Location	chr5:93952557-93952558
allele	A/G
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	POLR2A	chr5:93951720-93956311	Hela-S3	cervix:	n/a	n/a
2	E2F4	chr5:93952259-93952600	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:93951620-93955302	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93951256..93953174-chr5:94050678..94052441,2	K562	blood:
2	chr5:93947075..93949528-chr5:93950936..93953053,2	K562	blood:

Variant related genes	Relation type
ANKRD32	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1549180	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327757	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328331	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387486	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029910	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173020	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730205	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56813337	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57412880	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58306231	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307858	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61141017	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61427096	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132656	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132666	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132677	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132681	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132682	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132683	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132688	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132692	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132693	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132701	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133904	0.89[AMR][1000 genomes]
rs73134674	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134693	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134696	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73140270	0.88[EUR][1000 genomes]
rs73140284	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140285	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73144155	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144170	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73144175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144177	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144193	0.90[EUR][1000 genomes]
rs73145094	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150143	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73150166	0.83[AMR][1000 genomes]
rs73150174	0.89[AMR][1000 genomes]
rs9791080	0.89[AMR][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	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93942800-93952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:93942800-93953200	Weak transcription	Aorta	Aorta
3	chr5:93942800-93953200	Weak transcription	Fetal Stomach	stomach
4	chr5:93942800-93953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:93947400-93953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:93948800-93953000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:93949200-93953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:93949600-93953000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:93949600-93953200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:93950000-93953200	Enhancers	Liver	Liver
11	chr5:93950200-93952600	Weak transcription	Brain Germinal Matrix	brain
12	chr5:93950400-93952800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:93951000-93952800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:93951000-93953000	Enhancers	Fetal Brain Male	brain
15	chr5:93951000-93957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:93951200-93953000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:93951200-93953000	Enhancers	Fetal Lung	lung
18	chr5:93951200-93955000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:93951600-93953000	Enhancers	Fetal Heart	heart
20	chr5:93951800-93952600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:93951800-93953000	Enhancers	Dnd41	blood
22	chr5:93951800-93953200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:93951800-93956200	Active TSS	Hela-S3	cervix
24	chr5:93952000-93953000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:93952000-93953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:93952000-93953000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:93952000-93953000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:93952000-93953000	Active TSS	GM12878-XiMat	blood
29	chr5:93952200-93952600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:93952200-93952600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:93952200-93952600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:93952200-93952600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:93952200-93952600	Flanking Active TSS	Fetal Brain Female	brain
34	chr5:93952200-93952800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:93952200-93952800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:93952200-93952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:93952200-93952800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:93952200-93952800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:93952200-93952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:93952200-93952800	Enhancers	NHEK	skin
41	chr5:93952200-93953000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:93952200-93953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:93952200-93953000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:93952200-93953000	Enhancers	Fetal Intestine Small	intestine
45	chr5:93952200-93953000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr5:93952200-93953000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr5:93952200-93953000	Enhancers	A549	lung
48	chr5:93952200-93953000	Enhancers	NHDF-Ad	bronchial
49	chr5:93952200-93953200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:93952200-93953200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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