Variant report

Variant	rs8072598
Chromosome Location	chr17:66510438-66510439
allele	C/T
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	TCF7L2	chr17:66509189-66510763	HEK293	kidney:	n/a	n/a
2	JUN	chr17:66510341-66510519	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr17:66506146-66510554	SK-N-SH	brain:	n/a	chr17:66508093-66508102 chr17:66508484-66508499 chr17:66508095-66508104
4	CHD1	chr17:66507161-66511463	IMR90	lung:	n/a	n/a
5	MXI1	chr17:66507120-66510871	IMR90	lung:	n/a	chr17:66508093-66508102 chr17:66508484-66508499 chr17:66508095-66508104
6	POLR2A	chr17:66507604-66510448	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr17:66506962-66511766	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:65820674..65823268-chr17:66508486..66510670,2	MCF-7	breast:
2	chr17:66507070..66510931-chr17:66511371..66513422,6	K562	blood:
3	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
4	chr17:66452513..66457853-chr17:66506674..66510981,7	MCF-7	breast:
5	chr17:66509822..66512031-chr17:66520719..66523833,3	K562	blood:
6	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000269657	Chromatin interaction
ENSG00000108950	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000171634	Chromatin interaction
ENSG00000070540	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10468444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491176	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973034	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015212	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302235	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785905	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112060	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7221724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847781	0.85[ASN][1000 genomes]
rs72847782	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72847784	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847785	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847787	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847789	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847790	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847794	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847801	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74000753	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8067357	0.82[ASN][1000 genomes]
rs8082254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66507200-66510800	Active TSS	GM12878-XiMat	blood
2	chr17:66507200-66511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:66507400-66510600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:66507400-66510600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:66507400-66511000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:66507400-66511000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:66507400-66511000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr17:66507400-66511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
10	chr17:66507600-66510600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:66507600-66510800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:66507600-66510800	Active TSS	NHDF-Ad	bronchial
13	chr17:66507600-66511000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:66507600-66511200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr17:66507600-66511200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr17:66507600-66511200	Active TSS	Left Ventricle	heart
17	chr17:66507600-66511400	Active TSS	Aorta	Aorta
18	chr17:66507600-66511600	Active TSS	Ovary	ovary
19	chr17:66507800-66510600	Active TSS	NH-A	brain
20	chr17:66507800-66510600	Active TSS	NHEK	skin
21	chr17:66507800-66510800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr17:66507800-66510800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr17:66507800-66511000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:66507800-66511000	Active TSS	Fetal Muscle Trunk	muscle
25	chr17:66507800-66511000	Active TSS	Fetal Muscle Leg	muscle
26	chr17:66507800-66511000	Active TSS	Psoas Muscle	Psoas
27	chr17:66507800-66511000	Active TSS	HMEC	breast
28	chr17:66507800-66511000	Active TSS	K562	blood
29	chr17:66507800-66511200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:66507800-66511200	Active TSS	HSMMtube	muscle
31	chr17:66507800-66511400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:66507800-66511400	Active TSS	Fetal Heart	heart
33	chr17:66507800-66511800	Active TSS	Stomach Smooth Muscle	stomach
34	chr17:66508000-66510600	Active TSS	Thymus	Thymus
35	chr17:66508000-66511800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:66508200-66511000	Active TSS	HSMM	muscle
37	chr17:66508400-66510800	Active TSS	NHLF	lung
38	chr17:66508800-66511800	Active TSS	Right Atrium	heart
39	chr17:66509200-66510600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr17:66509200-66510600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:66509200-66510600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:66509200-66511000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr17:66509200-66511200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:66509400-66510600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:66509400-66510600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr17:66509400-66510600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:66509400-66511600	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr17:66509600-66510600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:66509600-66510800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr17:66509600-66511000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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