Variant report

Variant	rs17360508
Chromosome Location	chr8:125263818-125263819
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	NR2F2	chr8:125263512-125264120	MCF-7	breast:	n/a	n/a
2	RAD21	chr8:125263805-125264306	HCT-116	colon:	n/a	chr8:125264014-125264028
3	RAD21	chr8:125263817-125264409	HCT-116	colon:	n/a	chr8:125264014-125264028
4	CTCF	chr8:125263740-125263890	HVMF	connective:	n/a	n/a
5	CTCF	chr8:125263780-125263930	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125262127..125264204-chr8:125266153..125270131,3	MCF-7	breast:
2	chr8:125262569..125264078-chr8:125265107..125266677,2	K562	blood:
3	chr8:125263637..125264533-chr8:125384666..125385531,2	MCF-7	breast:
4	chr8:125262858..125264500-chr8:125383253..125385624,2	MCF-7	breast:
5	chr8:125261845..125265368-chr8:125383536..125385242,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214803	TF binding region
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16899467	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs17294819	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs55777105	0.91[ASN][1000 genomes]
rs56306432	0.81[ASN][1000 genomes]
rs72724903	0.88[ASN][1000 genomes]
rs72724904	0.91[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125250400-125267600	Weak transcription	Fetal Heart	heart
2	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125259600-125273800	Weak transcription	Left Ventricle	heart
4	chr8:125259800-125265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:125260000-125268400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:125260000-125269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125260200-125266200	Weak transcription	NHDF-Ad	bronchial
8	chr8:125260200-125266600	Weak transcription	A549	lung
9	chr8:125260400-125265400	Weak transcription	Hela-S3	cervix
10	chr8:125260800-125266200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:125261800-125266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:125263600-125264000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:125263600-125264200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:125263600-125264200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125263600-125264200	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:125263600-125264400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:125263600-125264400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:125263600-125264400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:125263600-125264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:125263600-125264400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:125263600-125264600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125263600-125268600	Enhancers	HUVEC	blood vessel
23	chr8:125263600-125270800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:125263800-125264000	Enhancers	Fetal Thymus	thymus
25	chr8:125263800-125264200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:125263800-125264200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:125263800-125264200	Enhancers	Adipose Nuclei	Adipose
28	chr8:125263800-125264200	Enhancers	Spleen	Spleen
29	chr8:125263800-125264400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:125263800-125264400	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:125263800-125264400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:125263800-125264400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:125263800-125266400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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