Variant report

Variant	rs72842987
Chromosome Location	chr17:59848456-59848457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:145575303..145577850-chr17:59846902..59848521,2	MCF-7	breast:
2	chr17:59847294..59849472-chr17:59852095..59854305,2	K562	blood:
3	chr17:59846892..59848462-chr20:55841136..55843376,2	MCF-7	breast:
4	chr17:59820303..59821882-chr17:59847368..59849790,2	MCF-7	breast:
5	chr17:59841098..59843804-chr17:59847129..59848783,2	K562	blood:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000131788	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16945572	0.81[EUR][1000 genomes]
rs16945638	0.81[EUR][1000 genomes]
rs16945643	0.84[EUR][1000 genomes]
rs6504073	0.83[EUR][1000 genomes]
rs7212340	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72842961	0.82[EUR][1000 genomes]
rs72842969	0.81[EUR][1000 genomes]
rs72842985	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72842998	0.83[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	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	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv908674	chr17:59800827-59899790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv575841	chr17:59812748-59914681	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	nsv908675	chr17:59835864-59937286	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59814000-59849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:59820400-59877200	Weak transcription	NH-A	brain
4	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
5	chr17:59839800-59849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:59840800-59848600	Weak transcription	Fetal Thymus	thymus
7	chr17:59841600-59856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:59844000-59851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:59844000-59882600	Weak transcription	NHLF	lung
10	chr17:59844600-59882600	Weak transcription	HMEC	breast
11	chr17:59845000-59853200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:59845600-59850000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:59845800-59849000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:59846000-59850000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:59846200-59849800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:59846400-59850400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:59846600-59850000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:59847000-59850000	ZNF genes & repeats	GM12878-XiMat	blood
19	chr17:59847200-59850000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:59847200-59850000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr17:59847400-59849400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr17:59847400-59849400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr17:59847400-59850000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr17:59847400-59850200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr17:59847400-59850800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:59847600-59849200	ZNF genes & repeats	A549	lung
27	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:59847800-59849000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr17:59847800-59876200	Weak transcription	Osteobl	bone
30	chr17:59848000-59848800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:59848000-59850000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr17:59848000-59850000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr17:59848000-59850000	ZNF genes & repeats	Fetal Lung	lung
34	chr17:59848000-59850000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr17:59848200-59848600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:59848200-59848800	Strong transcription	HUVEC	blood vessel
37	chr17:59848200-59848800	ZNF genes & repeats	NHEK	skin
38	chr17:59848200-59849000	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr17:59848200-59849800	ZNF genes & repeats	Dnd41	blood
40	chr17:59848200-59850000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr17:59848400-59848600	ZNF genes & repeats	Hela-S3	cervix
42	chr17:59848400-59849000	ZNF genes & repeats	HepG2	liver
43	chr17:59848400-59850000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:59848400-59850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr17:59848400-59850000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:59848400-59850000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:59848400-59873600	Weak transcription	K562	blood

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