Variant report

Variant	rs16869517
Chromosome Location	chr8:103550391-103550392
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	CTBP2	chr8:103549537-103550918	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr8:103549032-103550459	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr8:103547697-103550461	A549	lung:	n/a	chr8:103548853-103548860
4	RAD21	chr8:103549765-103550401	IMR90	lung:	n/a	chr8:103550317-103550326 chr8:103550075-103550087
5	RCOR1	chr8:103547705-103551463	IMR90	lung:	n/a	n/a
6	POLR2A	chr8:103547808-103550719	IMR90	lung:	n/a	n/a
7	CTCF	chr8:103550280-103550430	AG09309	skin:	n/a	n/a
8	MAZ	chr8:103548896-103550465	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103545241..103546971-chr8:103549394..103552114,2	MCF-7	breast:
2	chr8:103545032..103547830-chr8:103548926..103551199,2	MCF-7	breast:
3	chr8:103540168..103543141-chr8:103550290..103553115,2	MCF-7	breast:
4	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
5	chr8:103549075..103551753-chr8:103552917..103555861,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-1224P	TF binding region
ENSG00000252593	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10505033	0.84[CEU][hapmap]
rs16869483	0.84[CEU][hapmap]
rs5001330	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs72683053	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72683057	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
2	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:103546600-103550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:103546600-103550600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr8:103546600-103550600	Enhancers	Fetal Thymus	thymus
6	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
7	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
8	chr8:103547600-103550400	Enhancers	NHEK	skin
9	chr8:103547600-103550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:103547600-103550600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:103547800-103550400	Flanking Active TSS	A549	lung
12	chr8:103547800-103550800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:103548000-103550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:103548000-103550400	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:103548000-103550600	Flanking Active TSS	Hela-S3	cervix
16	chr8:103548000-103550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:103548000-103550800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:103548000-103550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:103548000-103550800	Enhancers	Brain Anterior Caudate	brain
20	chr8:103548000-103550800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:103548000-103551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:103548000-103551000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:103548000-103551000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:103548200-103550400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:103548200-103550400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:103548200-103550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:103548200-103550600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:103548400-103550400	Enhancers	HSMM	muscle
29	chr8:103548400-103551400	Weak transcription	Left Ventricle	heart
30	chr8:103548600-103550400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:103548600-103550600	Enhancers	GM12878-XiMat	blood
32	chr8:103548600-103550800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:103548600-103551200	Enhancers	Brain Germinal Matrix	brain
34	chr8:103548800-103550400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr8:103548800-103551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:103549000-103550400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:103549000-103550800	Enhancers	Right Atrium	heart
38	chr8:103549000-103553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:103549200-103550600	Weak transcription	Placenta	Placenta
40	chr8:103549200-103551000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103549200-103553400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:103549400-103550400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:103549400-103550600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:103549400-103550800	Enhancers	K562	blood
45	chr8:103549600-103550400	Enhancers	HSMMtube	muscle
46	chr8:103549600-103550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr8:103549600-103551400	Weak transcription	Psoas Muscle	Psoas
48	chr8:103549600-103551600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:103549600-103553200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:103549600-103553400	Weak transcription	Adipose Nuclei	Adipose

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