Variant report

Variant	rs559354564
Chromosome Location	chr8:11623752-11623753
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	CTCF	chr8:11622694-11623860	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr8:11622693-11623820	A549	lung:	n/a	n/a
3	RAD21	chr8:11622683-11623839	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:

Variant related genes	Relation type
NEIL2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
2	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:11617400-11626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:11618000-11626000	Weak transcription	Pancreas	Pancrea
7	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:11619600-11626800	Weak transcription	Gastric	stomach
9	chr8:11620400-11626600	Weak transcription	Right Ventricle	heart
10	chr8:11621200-11626600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:11621600-11624800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11622000-11623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:11622000-11623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:11622000-11623800	Enhancers	HSMM	muscle
15	chr8:11622400-11626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:11622600-11623800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:11622600-11623800	Enhancers	NHEK	skin
18	chr8:11622800-11623800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:11622800-11623800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:11622800-11623800	Enhancers	Fetal Heart	heart
21	chr8:11622800-11623800	Enhancers	HSMMtube	muscle
22	chr8:11622800-11624000	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:11622800-11624000	Enhancers	HUVEC	blood vessel
24	chr8:11623000-11623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11623000-11623800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:11623000-11623800	Enhancers	Hela-S3	cervix
27	chr8:11623000-11624400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:11623200-11623800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:11623200-11623800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:11623200-11623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:11623200-11623800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:11623200-11623800	Enhancers	GM12878-XiMat	blood
33	chr8:11623200-11623800	Enhancers	HepG2	liver
34	chr8:11623200-11623800	Enhancers	HMEC	breast
35	chr8:11623200-11623800	Enhancers	NH-A	brain
36	chr8:11623200-11623800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr8:11623200-11624000	Enhancers	NHLF	lung
38	chr8:11623200-11625600	Enhancers	Primary B cells from cord blood	blood
39	chr8:11623400-11625200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:11623400-11625200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:11623400-11625600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:11623400-11625600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:11623400-11625600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:11623400-11625800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:11623400-11625800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:11623400-11625800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:11623400-11625800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:11623400-11625800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:11623400-11626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:11623400-11626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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