Variant report

Variant	rs560551574
Chromosome Location	chr8:95960490-95960491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:95960273-95963047	IMR90	lung:	n/a	chr8:95960758-95960768 chr8:95961728-95961739
2	TCF12	chr8:95960270-95962400	MCF-7	breast:	n/a	n/a
3	MAZ	chr8:95960453-95961107	GM12878	blood:	n/a	chr8:95960758-95960768
4	NR2F2	chr8:95960175-95961280	MCF-7	breast:	n/a	n/a
5	MAX	chr8:95960439-95961102	MCF-7	breast:	n/a	chr8:95960758-95960768
6	SIN3AK20	chr8:95959807-95963057	MCF-7	breast:	n/a	n/a
7	NR2F2	chr8:95960457-95961077	MCF-7	breast:	n/a	n/a
8	GATA3	chr8:95960392-95961110	MCF-7	breast:	n/a	n/a
9	HA-E2F1	chr8:95960456-95961031	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:95960485-95961192	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr8:95960390-95960674	K562	blood:	n/a	n/a
12	POLR2A	chr8:95960471-95961265	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:95960297-95961156	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:95960353-95962964	GM12878	blood:	n/a	n/a
15	REST	chr8:95960251-95962858	H1-neurons	neurons:	n/a	chr8:95961097-95961110 chr8:95962123-95962133 chr8:95960670-95960683 chr8:95960886-95960906 chr8:95960666-95960686
16	POLR2A	chr8:95960475-95960492	MCF10A-Er-Src	breast:	n/a	n/a
17	MXI1	chr8:95959610-95963133	IMR90	lung:	n/a	n/a
18	MXI1	chr8:95958903-95964905	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr8:95960212-95960945	T-47D	breast:	n/a	n/a
20	GATA3	chr8:95960319-95961154	MCF-7	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
2	chr8:95959150..95962570-chr8:95985356..95988577,4	MCF-7	breast:
3	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:
4	chr8:95958416..95961526-chr8:96166017..96168571,3	MCF-7	breast:
5	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
6	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
7	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
8	chr8:95905670..95907596-chr8:95958575..95960918,2	K562	blood:
9	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
10	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
11	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
12	chr8:95960109..95960976-chr8:96036356..96037275,2	MCF-7	breast:
13	chr8:95958215..95960553-chr8:96082467..96084119,2	MCF-7	breast:
14	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
15	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
16	chr8:95959920..95961566-chr8:96108874..96111712,2	MCF-7	breast:
17	chr8:95959016..95961570-chr8:96028062..96029955,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253878	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3407090	chr8:95960201-95962949	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95957200-95960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:95957200-95960600	Weak transcription	Gastric	stomach
4	chr8:95957800-95963400	Active TSS	Pancreas	Pancrea
5	chr8:95958000-95962600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:95958400-95960600	Weak transcription	Spleen	Spleen
7	chr8:95958400-95960800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr8:95958600-95960600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr8:95959000-95960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95959000-95960600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:95959000-95960800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:95959000-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:95959000-95960800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr8:95959000-95961000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
16	chr8:95959200-95960800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr8:95959200-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95959200-95960800	Flanking Active TSS	Fetal Thymus	thymus
19	chr8:95959200-95960800	Flanking Active TSS	Osteobl	bone
20	chr8:95959200-95961000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:95959200-95961000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:95959200-95961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:95959400-95960600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:95959400-95960800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:95959400-95960800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:95959400-95960800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr8:95959400-95961800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:95959400-95961800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:95959400-95962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:95959400-95962400	Active TSS	Right Atrium	heart
31	chr8:95959600-95960600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:95959600-95960600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:95959600-95960800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:95959600-95960800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:95959600-95960800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr8:95959600-95960800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:95959600-95961000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:95959600-95961600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:95959800-95960600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr8:95959800-95960600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:95959800-95960600	Flanking Active TSS	Fetal Brain Female	brain
42	chr8:95959800-95960600	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr8:95959800-95960600	Flanking Active TSS	Fetal Lung	lung
44	chr8:95959800-95960600	Flanking Active TSS	Dnd41	blood
45	chr8:95959800-95960600	Flanking Active TSS	HepG2	liver
46	chr8:95959800-95960600	Flanking Active TSS	NH-A	brain
47	chr8:95959800-95960600	Flanking Active TSS	NHEK	skin
48	chr8:95959800-95960800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr8:95959800-95960800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr8:95959800-95960800	Flanking Active TSS	Brain Substantia Nigra	brain

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