Variant report

Variant	rs560473402
Chromosome Location	chr8:8752727-8752728
allele	A/C
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	MAZ	chr8:8752623-8752757	K562	blood:	n/a	n/a
2	RCOR1	chr8:8752605-8752882	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:

Variant related genes	Relation type
MFHAS1	TF binding region
RNU6-682P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking 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	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1803827	chr8:8745741-8758058	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1825921	chr8:8745741-8758058	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1835162	chr8:8745741-8758058	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3371289	chr8:8748742-8753140	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1838060	chr8:8749969-8765165	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1814108	chr8:8749990-8769708	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv972228	chr8:8752697-8759027	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751400-8752800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr8:8751600-8753000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:8751600-8753200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8751800-8752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:8751800-8752800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:8751800-8752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:8751800-8753000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:8751800-8753000	Enhancers	K562	blood
10	chr8:8751800-8753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:8751800-8753200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:8751800-8753200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:8751800-8753200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:8751800-8753200	Enhancers	Fetal Thymus	thymus
15	chr8:8751800-8753200	Enhancers	HepG2	liver
16	chr8:8751800-8753400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:8751800-8755200	Weak transcription	Fetal Heart	heart
18	chr8:8751800-8756200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:8751800-8756800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:8751800-8756800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:8751800-8757800	Weak transcription	Small Intestine	intestine
22	chr8:8751800-8759000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:8752000-8752800	Enhancers	Dnd41	blood
24	chr8:8752000-8753200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:8752000-8753400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:8752000-8755400	Weak transcription	Fetal Lung	lung
27	chr8:8752000-8756400	Weak transcription	Thymus	Thymus
28	chr8:8752000-8757000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:8752200-8756800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:8752200-8758200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:8752200-8759000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:8752400-8752800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:8752400-8752800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:8752400-8753000	Enhancers	Placenta	Placenta
35	chr8:8752400-8753200	Enhancers	Primary T cells from cord blood	blood
36	chr8:8752400-8753200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:8752600-8752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:8752600-8752800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:8752600-8752800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:8752600-8752800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:8752600-8752800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:8752600-8753200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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