Variant report

Variant	rs59814918
Chromosome Location	chr17:63119019-63119020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63023375..63025111-chr17:63117678..63119691,2	MCF-7	breast:
2	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:
3	chr16:14192209..14194452-chr17:63117160..63119159,2	MCF-7	breast:
4	chr17:62969930..62974223-chr17:63117213..63122121,8	MCF-7	breast:
5	chr17:63000197..63002016-chr17:63118020..63120951,2	MCF-7	breast:
6	chr17:63118180..63120379-chr17:63138460..63140911,3	MCF-7	breast:
7	chr17:63117665..63121583-chr17:63131912..63139197,8	K562	blood:
8	chr17:63118227..63121662-chr17:63122983..63126434,3	K562	blood:
9	chr17:63058260..63060968-chr17:63117386..63120197,2	MCF-7	breast:
10	chr17:63118081..63119679-chr17:63209252..63210860,2	MCF-7	breast:
11	chr17:62983232..62984791-chr17:63118181..63120024,2	MCF-7	breast:
12	chr17:63118160..63120785-chr17:63189536..63191334,2	MCF-7	breast:
13	chr17:62981235..62983059-chr17:63118684..63121178,2	MCF-7	breast:
14	chr17:63117639..63119496-chr17:63177929..63179773,2	MCF-7	breast:
15	chr17:63095279..63098151-chr17:63117643..63122061,8	MCF-7	breast:
16	chr17:63050818..63055787-chr17:63117380..63122567,9	MCF-7	breast:
17	chr17:63103004..63106074-chr17:63118329..63120568,5	MCF-7	breast:
18	chr17:63106164..63108847-chr17:63116672..63121069,3	MCF-7	breast:
19	chr17:63117950..63119799-chr17:63192625..63195137,2	MCF-7	breast:
20	chr17:63095331..63099296-chr17:63117936..63120634,6	MCF-7	breast:
21	chr17:63118932..63120932-chr17:63131317..63133412,3	K562	blood:
22	chr17:63103464..63106630-chr17:63116614..63119834,3	K562	blood:
23	chr17:63117889..63120887-chr17:63144486..63147111,3	MCF-7	breast:
24	chr17:63061368..63063450-chr17:63117948..63120311,2	MCF-7	breast:
25	chr17:62968870..62973238-chr17:63117876..63121265,6	MCF-7	breast:
26	chr17:63099430..63102253-chr17:63117959..63120208,2	MCF-7	breast:
27	chr17:63073557..63076220-chr17:63118767..63121189,2	MCF-7	breast:
28	chr17:63098255..63100421-chr17:63117323..63119629,3	MCF-7	breast:
29	chr17:63118090..63122363-chr17:63130116..63137221,12	MCF-7	breast:
30	chr17:63118923..63121518-chr17:63126607..63128778,3	K562	blood:
31	chr17:63117696..63121583-chr17:63133620..63139197,5	K562	blood:
32	chr17:63117935..63120127-chr17:63196537..63198308,2	MCF-7	breast:
33	chr17:63117456..63119485-chr17:63168977..63171094,3	K562	blood:
34	chr17:63046304..63055748-chr17:63116888..63122496,16	MCF-7	breast:
35	chr17:63087175..63090239-chr17:63118301..63120759,3	MCF-7	breast:
36	chr17:63030304..63032420-chr17:63118114..63120273,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108370	Chromatin interaction
ENSG00000120063	Chromatin interaction
ENSG00000263470	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000266598	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1344372	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs190961	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968572	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017033	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs299835	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299841	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59445569	0.81[EUR][1000 genomes]
rs66806875	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73343983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343993	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345827	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345832	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345835	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345847	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345861	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345883	0.81[EUR][1000 genomes]
rs73345887	0.81[EUR][1000 genomes]
rs73345896	0.81[EUR][1000 genomes]
rs7359499	0.81[EUR][1000 genomes]
rs986090	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63118000-63119200	Flanking Active TSS	Dnd41	blood
2	chr17:63118400-63119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:63118400-63120000	Active TSS	Rectal Smooth Muscle	rectum
4	chr17:63118600-63119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:63118600-63119600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:63118600-63119600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:63118600-63119600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:63118600-63119600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:63118600-63119600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr17:63118600-63119600	Active TSS	Fetal Brain Male	brain
11	chr17:63118600-63119600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr17:63118600-63119600	Active TSS	A549	lung
13	chr17:63118600-63119600	Active TSS	Osteobl	bone
14	chr17:63118600-63119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr17:63118600-63119800	Active TSS	Brain Angular Gyrus	brain
16	chr17:63118600-63119800	Active TSS	Brain Germinal Matrix	brain
17	chr17:63118800-63119200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr17:63118800-63119200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr17:63118800-63119200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:63118800-63119200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:63118800-63119200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:63118800-63119200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr17:63118800-63119200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr17:63118800-63119200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:63118800-63119200	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr17:63118800-63119200	Flanking Active TSS	Fetal Thymus	thymus
27	chr17:63118800-63119600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:63118800-63119600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr17:63118800-63119600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:63118800-63119600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:63118800-63119600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr17:63118800-63119600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr17:63118800-63119600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:63118800-63119600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:63118800-63119600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:63118800-63119600	Active TSS	Brain Cingulate Gyrus	brain
37	chr17:63118800-63119600	Active TSS	Fetal Intestine Small	intestine
38	chr17:63118800-63119600	Active TSS	Fetal Kidney	kidney
39	chr17:63118800-63119600	Active TSS	Fetal Stomach	stomach
40	chr17:63118800-63119600	Active TSS	Left Ventricle	heart
41	chr17:63118800-63119600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr17:63118800-63119600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr17:63118800-63119600	Active TSS	Hela-S3	cervix
44	chr17:63118800-63119600	Active TSS	HSMM	muscle
45	chr17:63118800-63119600	Active TSS	K562	blood
46	chr17:63118800-63119600	Active TSS	NHEK	skin
47	chr17:63118800-63119800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr17:63118800-63119800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:63118800-63119800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:63118800-63119800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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