Variant report

Variant	rs570929521
Chromosome Location	chr8:62624208-62624209
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	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
2	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
3	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
4	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
5	CTCF	chr8:62623379-62624276	IMR90	lung:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
6	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
7	SIX5	chr8:62622210-62626661	A549	lung:	n/a	chr8:62624442-62624451
8	EP300	chr8:62622946-62628108	A549	lung:	n/a	chr8:62626370-62626379 chr8:62627005-62627021 chr8:62627011-62627027 chr8:62624213-62624227 chr8:62624029-62624043 chr8:62625613-62625627 chr8:62623823-62623833 chr8:62623751-62623761 chr8:62625013-62625021 chr8:62623269-62623283 chr8:62627288-62627304 chr8:62627012-62627028 chr8:62627697-62627706 chr8:62624040-62624054 chr8:62627488-62627504
9	ARID3A	chr8:62624117-62626070	K562	blood:	n/a	n/a
10	POLR2A	chr8:62620561-62626562	K562	blood:	n/a	n/a
11	POLR2A	chr8:62620532-62628356	U87	brain:	n/a	n/a
12	CHD1	chr8:62622453-62628339	IMR90	lung:	n/a	chr8:62627291-62627301 chr8:62627210-62627220 chr8:62626642-62626652 chr8:62627205-62627215 chr8:62628180-62628190
13	POLR2A	chr8:62622492-62628360	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:62622301-62628049	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:62622659-62628358	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:62622600-62625968	HepG2	liver:	n/a	n/a
17	REST	chr8:62622835-62628111	A549	lung:	n/a	chr8:62627068-62627088 chr8:62627041-62627059 chr8:62627069-62627087 chr8:62627082-62627092 chr8:62627080-62627094
18	MXI1	chr8:62624083-62628172	IMR90	lung:	n/a	chr8:62627478-62627487 chr8:62627889-62627898
19	RAD21	chr8:62623001-62624246	SK-N-SH	brain:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
20	GATA3	chr8:62622706-62628236	A549	lung:	n/a	chr8:62624903-62624913 chr8:62622901-62622908 chr8:62624775-62624785 chr8:62624843-62624860 chr8:62623597-62623607 chr8:62623600-62623609 chr8:62623593-62623614 chr8:62624927-62624938

No.	Distal block	Cell Line	Cell type
1	chr8:62620828..62625218-chr8:62625341..62628340,6	MCF-7	breast:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62605925..62608885-chr8:62622452..62624247,2	MCF-7	breast:
6	chr8:62621847..62624556-chr8:62711277..62713553,2	K562	blood:
7	chr8:62623830..62626750-chr8:62657804..62660228,2	K562	blood:
8	chr8:62538409..62541040-chr8:62622650..62625118,2	K562	blood:
9	chr8:62619459..62621551-chr8:62623294..62626246,2	MCF-7	breast:
10	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
11	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:
12	chr8:62564124..62567084-chr8:62621412..62624391,3	MCF-7	breast:

Variant related genes	Relation type
MIR4470	TF binding region
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000198363	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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3387274	chr8:62623635-62624488	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3342680	chr8:62623645-62624486	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:62613000-62626400	Weak transcription	Lung	lung
4	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
5	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
6	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
7	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:62619200-62624600	Weak transcription	Fetal Thymus	thymus
11	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
12	chr8:62620000-62624400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:62620000-62624600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:62620200-62624600	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:62621800-62624400	Weak transcription	Fetal Stomach	stomach
16	chr8:62621800-62624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:62622000-62624600	Enhancers	Fetal Intestine Small	intestine
18	chr8:62622200-62624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:62622200-62624600	Weak transcription	Aorta	Aorta
20	chr8:62622200-62624600	Weak transcription	Ovary	ovary
21	chr8:62622200-62624600	Weak transcription	Psoas Muscle	Psoas
22	chr8:62622200-62626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:62622200-62626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:62622200-62626200	Weak transcription	Pancreas	Pancrea
25	chr8:62622200-62626400	Weak transcription	Gastric	stomach
26	chr8:62622400-62626000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:62622600-62625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:62622800-62624400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:62622800-62624400	Enhancers	Fetal Intestine Large	intestine
31	chr8:62622800-62624400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:62622800-62624400	Flanking Active TSS	Osteobl	bone
33	chr8:62622800-62624600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:62622800-62624800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:62623000-62624600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:62623000-62624600	Enhancers	Fetal Kidney	kidney
38	chr8:62623000-62624600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:62623000-62625000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:62623000-62626000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr8:62623000-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:62623200-62624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:62623200-62624600	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:62623200-62625400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:62623200-62626200	Weak transcription	Small Intestine	intestine
46	chr8:62623200-62627400	Active TSS	NHLF	lung
47	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:62623400-62624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:62623400-62624400	Weak transcription	Fetal Brain Female	brain

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