Variant report

Variant	rs16869913
Chromosome Location	chr8:103973711-103973712
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	CTCF	chr8:103973660-103973930	HCM	heart:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
2	MAZ	chr8:103973657-103973911	GM12878	blood:	n/a	chr8:103973896-103973905
3	CTCF	chr8:103973625-103973958	K562	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
4	CTCF	chr8:103973680-103973830	GM12864	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
5	CTCF	chr8:103973680-103973830	HVMF	connective:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
6	MAX	chr8:103973652-103974260	H1-hESC	embryonic stem cell:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
7	CTCF	chr8:103973706-103973928	SK-N-SH_RA	brain:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
8	CTCF	chr8:103973640-103973790	GM12872	blood:	n/a	n/a
9	CTCF	chr8:103973695-103973856	A549	lung:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
10	CTCF	chr8:103973680-103973830	HA-sp	spinal cord:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
11	CTCF	chr8:103973680-103973830	HMF	breast:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
12	RAD21	chr8:103973693-103973854	K562	blood:	n/a	chr8:103973784-103973798 chr8:103973785-103973799
13	CTCF	chr8:103973700-103973850	GM12878	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
14	CTCF	chr8:103973705-103973879	K562	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
15	YY1	chr8:103973443-103974064	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr8:103973540-103974017	H1-hESC	embryonic stem cell:	n/a	chr8:103973784-103973798 chr8:103973785-103973799
17	SIN3A	chr8:103973590-103974215	H1-hESC	embryonic stem cell:	n/a	chr8:103974128-103974137
18	RAD21	chr8:103973544-103974093	H1-hESC	embryonic stem cell:	n/a	chr8:103973784-103973798 chr8:103974037-103974046 chr8:103973785-103973799
19	EGR1	chr8:103973531-103974144	MCF-7	breast:	n/a	chr8:103973660-103973669
20	MAX	chr8:103973439-103974360	H1-hESC	embryonic stem cell:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
21	SMC3	chr8:103973653-103973839	K562	blood:	n/a	chr8:103973792-103973799 chr8:103973788-103973796
22	CTCF	chr8:103973708-103973865	HepG2	liver:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
23	SP4	chr8:103973553-103973934	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:103973700-103973850	SK-N-SH_RA	brain:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
25	CTCF	chr8:103973691-103973900	GM19240	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
26	GABPA	chr8:103973609-103973933	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:103973640-103973790	HMEC	breast:	n/a	n/a
28	CTCF	chr8:103973654-103973876	GM12891	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
29	CTCF	chr8:103973661-103973847	A549	lung:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
30	CTCF	chr8:103973680-103973830	AG09309	skin:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
31	CTCF	chr8:103973680-103973830	HFF-Myc	foreskin:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
32	CTCF	chr8:103973680-103973830	HCT-116	colon:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
33	MTA3	chr8:103973550-103974321	GM12878	blood:	n/a	n/a
34	YY1	chr8:103973623-103974133	GM12878	blood:	n/a	n/a
35	CTCF	chr8:103973675-103973895	H1-hESC	embryonic stem cell:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
36	RAD21	chr8:103973631-103973897	SK-N-SH_RA	brain:	n/a	chr8:103973784-103973798 chr8:103973785-103973799
37	CTCF	chr8:103973700-103973850	HCPEpiC	choroid plexus:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
38	CTCF	chr8:103973590-103973976	K562	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
39	CTCF	chr8:103973680-103973830	WERI-Rb-1	eye:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
40	CTCF	chr8:103973700-103973850	RPTEC	kidney:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
41	CTCF	chr8:103973489-103974049	HCT-116	colon:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
42	RAD21	chr8:103973624-103973982	IMR90	lung:	n/a	chr8:103973784-103973798 chr8:103973785-103973799
43	CTCF	chr8:103973700-103973850	Caco-2	colon:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
44	CTCF	chr8:103973710-103973872	GM13977	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
45	RAD21	chr8:103973477-103974122	HCT-116	colon:	n/a	chr8:103973784-103973798 chr8:103974037-103974046 chr8:103973785-103973799
46	CTCF	chr8:103973700-103973850	GM12875	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
47	CTCF	chr8:103973649-103973941	IMR90	lung:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
48	TEAD4	chr8:103973437-103973885	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr8:103973700-103973850	GM12865	blood:	n/a	chr8:103973785-103973798 chr8:103973787-103973795
50	RAD21	chr8:103973658-103973866	Hela-S3	cervix:	n/a	chr8:103973784-103973798 chr8:103973785-103973799

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
2	chr8:103937164..103938846-chr8:103972423..103974367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265898	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1806640	0.86[ASN][1000 genomes]
rs1913026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2892492	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4452771	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6468851	0.81[AFR][1000 genomes]
rs6468852	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68090954	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667266	0.96[ASN][1000 genomes]
rs72667268	0.96[ASN][1000 genomes]
rs72667270	0.93[ASN][1000 genomes]
rs72667272	0.93[ASN][1000 genomes]
rs7817690	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827655	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831710	0.96[ASN][1000 genomes]
rs7840373	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846015	0.93[ASN][1000 genomes]
rs884397	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs884398	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9693082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv465752	chr8:103953990-103979714	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv611823	chr8:103953990-103979714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:103953200-103974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103972400-103973800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:103972600-103973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:103973200-103974400	Enhancers	Ovary	ovary
6	chr8:103973200-103975200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:103973400-103973800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:103973400-103974000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103973400-103974200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:103973400-103974400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:103973400-103974400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:103973400-103974400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:103973400-103974400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:103973400-103974400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:103973400-103974400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:103973400-103974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:103973400-103974600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:103973400-103974800	Enhancers	Thymus	Thymus
19	chr8:103973400-103974800	Enhancers	GM12878-XiMat	blood
20	chr8:103973400-103975000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:103973600-103974000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:103973600-103974000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:103973600-103974000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:103973600-103974000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:103973600-103974000	Bivalent Enhancer	HepG2	liver
26	chr8:103973600-103974200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:103973600-103974200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:103973600-103974200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:103973600-103974200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:103973600-103974200	Enhancers	Fetal Muscle Leg	muscle
31	chr8:103973600-103974200	Enhancers	Dnd41	blood
32	chr8:103973600-103974200	Enhancers	HMEC	breast
33	chr8:103973600-103974400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:103973600-103974400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:103973600-103974400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:103973600-103974400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:103973600-103974400	Enhancers	Brain Angular Gyrus	brain
38	chr8:103973600-103974400	Enhancers	Placenta	Placenta
39	chr8:103973600-103974400	Enhancers	Lung	lung
40	chr8:103973600-103974400	Enhancers	Pancreas	Pancrea
41	chr8:103973600-103974400	Enhancers	HSMMtube	muscle
42	chr8:103973600-103974400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:103973600-103974400	Enhancers	NH-A	brain
44	chr8:103973600-103974600	Enhancers	Brain Substantia Nigra	brain
45	chr8:103973600-103974600	Enhancers	HSMM	muscle
46	chr8:103973600-103974800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:103973600-103974800	Enhancers	Fetal Kidney	kidney
48	chr8:103973600-103975000	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:103973600-103975400	Enhancers	Fetal Thymus	thymus

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