Variant report

Variant	rs72843781
Chromosome Location	chr17:60093542-60093543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60093422..60097278-chr17:60186745..60191637,29	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10512492	0.92[ASN][1000 genomes]
rs12450560	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12600620	0.81[ASN][1000 genomes]
rs16945753	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945756	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16945759	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16945801	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28654524	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3809753	0.84[ASN][1000 genomes]
rs3826419	0.84[ASN][1000 genomes]
rs4968463	0.81[ASN][1000 genomes]
rs4968464	0.81[ASN][1000 genomes]
rs4968467	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4968468	0.85[ASN][1000 genomes]
rs4968470	0.83[ASN][1000 genomes]
rs57137451	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57746689	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs58241345	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58335059	0.92[ASN][1000 genomes]
rs60053512	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61469058	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7218724	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7221089	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73336436	0.84[ASN][1000 genomes]
rs8065778	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8066964	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8074890	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9630736	0.83[AFR][1000 genomes];0.91[ASN][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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv3353314	chr17:60092370-60094318	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 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	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
8	chr17:60060400-60098800	Weak transcription	Gastric	stomach
9	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
10	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
13	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
14	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
15	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
16	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
18	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:60079800-60094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:60080000-60094000	Strong transcription	GM12878-XiMat	blood
21	chr17:60080200-60099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:60081400-60096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:60081800-60111600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:60082000-60096200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:60083400-60098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:60083600-60096400	Weak transcription	Brain Germinal Matrix	brain
27	chr17:60084600-60099000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:60086000-60096600	Strong transcription	HepG2	liver
29	chr17:60086200-60097600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:60086400-60094000	Strong transcription	A549	lung
31	chr17:60086400-60097600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr17:60086600-60094200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:60086800-60095200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:60087000-60097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:60087000-60102200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:60088400-60098800	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:60088400-60099000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:60088400-60099200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:60088400-60107600	Weak transcription	Pancreas	Pancrea
40	chr17:60088600-60094400	Weak transcription	Fetal Kidney	kidney
41	chr17:60088600-60094800	Weak transcription	NH-A	brain
42	chr17:60088600-60095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:60088600-60095800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:60088600-60096200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:60088600-60097000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:60088600-60098800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:60088600-60099000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:60088600-60099000	Weak transcription	Brain Substantia Nigra	brain
49	chr17:60088600-60099000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:60088600-60099200	Weak transcription	Lung	lung

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