Variant report

Variant	rs7208535
Chromosome Location	chr17:59854881-59854882
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	JUND	chr17:59851916-59859108	MCF-7	breast:	n/a	chr17:59852009-59852023 chr17:59857440-59857449
2	REST	chr17:59852006-59856923	MCF-7	breast:	n/a	n/a
3	GATA2	chr17:59854627-59854959	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr17:59854348-59855331	ProgFib	skin:	n/a	n/a
5	ZNF217	chr17:59853644-59855245	MCF-7	breast:	n/a	n/a
6	GATA3	chr17:59853431-59854949	MCF-7	breast:	n/a	n/a
7	GATA3	chr17:59854685-59854885	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr17:59851887-59863123	MCF-7	breast:	n/a	chr17:59857440-59857450 chr17:59861027-59861038
9	EP300	chr17:59854584-59854933	SK-N-SH_RA	brain:	n/a	n/a
10	ELF1	chr17:59852000-59859117	MCF-7	breast:	n/a	n/a
11	CEBPB	chr17:59851758-59857964	MCF-7	breast:	n/a	chr17:59852026-59852039 chr17:59852027-59852038 chr17:59852028-59852037 chr17:59852028-59852037 chr17:59852026-59852039 chr17:59852028-59852037 chr17:59852884-59852897

No.	Distal block	Cell Line	Cell type
1	chr17:59853989..59855562-chr5:50096547..50098821,2	MCF-7	breast:
2	chr17:59854009..59855906-chr20:60639922..60641476,2	MCF-7	breast:
3	chr17:59854397..59856102-chr7:152354184..152355702,2	MCF-7	breast:

Variant related genes	Relation type
BRIP1	TF binding region
ENSG00000130699	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2024189	1.00[AFR][1000 genomes]
rs2109253	1.00[AFR][1000 genomes]
rs2159453	0.91[AFR][1000 genomes]
rs2378901	0.91[AFR][1000 genomes]
rs2378903	0.92[AFR][1000 genomes]
rs2378904	0.96[AFR][1000 genomes]
rs4968449	1.00[AFR][1000 genomes]
rs7215102	0.96[AFR][1000 genomes]
rs7219791	0.88[AFR][1000 genomes]
rs7223095	0.92[AFR][1000 genomes]
rs7226290	0.84[AFR][1000 genomes]
rs9892513	1.00[ASN][1000 genomes]
rs9893175	0.84[AFR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:59820400-59877200	Weak transcription	NH-A	brain
3	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
4	chr17:59841600-59856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:59844000-59882600	Weak transcription	NHLF	lung
6	chr17:59844600-59882600	Weak transcription	HMEC	breast
7	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:59847800-59876200	Weak transcription	Osteobl	bone
9	chr17:59848400-59873600	Weak transcription	K562	blood
10	chr17:59848600-59874000	Weak transcription	Hela-S3	cervix
11	chr17:59848600-59875600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:59848800-59872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:59848800-59882600	Weak transcription	NHEK	skin
14	chr17:59848800-59911200	Weak transcription	HUVEC	blood vessel
15	chr17:59849000-59869400	Weak transcription	HepG2	liver
16	chr17:59849400-59871600	Weak transcription	HSMM	muscle
17	chr17:59849400-59872200	Weak transcription	Fetal Thymus	thymus
18	chr17:59849400-59887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:59849800-59858600	Strong transcription	Dnd41	blood
20	chr17:59849800-59887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:59850000-59856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:59850000-59857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:59850000-59857400	Weak transcription	A549	lung
24	chr17:59850000-59857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:59850000-59860400	Weak transcription	GM12878-XiMat	blood
26	chr17:59850000-59865000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr17:59850000-59866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:59850000-59869400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:59850000-59870800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:59850000-59871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:59850000-59872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:59850000-59873200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:59850000-59887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:59850000-59887000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr17:59851200-59902600	Weak transcription	Fetal Stomach	stomach
36	chr17:59852000-59858600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:59852400-59856800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:59852600-59860600	Weak transcription	Primary B cells from cord blood	blood
39	chr17:59852600-59869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:59852600-59898000	Weak transcription	Fetal Intestine Small	intestine
41	chr17:59853800-59869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:59854000-59855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:59854000-59855800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:59854000-59861600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr17:59854000-59866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:59854000-59868600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:59854000-59873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:59854800-59857400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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