Variant report

Variant	rs532603417
Chromosome Location	chr8:126441343-126441344
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	POLR2A	chr8:126441302-126444624	NB4	blood:	n/a	n/a
2	SMC3	chr8:126440994-126445244	SK-N-SH	brain:	n/a	chr8:126444444-126444458 chr8:126445127-126445137 chr8:126442868-126442878 chr8:126441364-126441372 chr8:126442236-126442246
3	ZC3H11A	chr8:126441293-126441555	K562	blood:	n/a	n/a
4	EP300	chr8:126441299-126443020	A549	lung:	n/a	chr8:126441791-126441805 chr8:126441924-126441933 chr8:126441792-126441806 chr8:126441955-126441971 chr8:126442812-126442821
5	USF1	chr8:126441169-126441667	A549	lung:	n/a	chr8:126441644-126441660 chr8:126441513-126441524
6	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
7	RAD21	chr8:126441295-126442827	SK-N-SH_RA	brain:	n/a	chr8:126441997-126442010
8	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
9	TCF12	chr8:126441096-126441708	A549	lung:	n/a	n/a
10	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
11	JUND	chr8:126441328-126442999	A549	lung:	n/a	chr8:126442522-126442533 chr8:126442097-126442106 chr8:126441646-126441655 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
12	POLR2A	chr8:126441260-126442262	SK-N-SH	brain:	n/a	n/a
13	JUN	chr8:126441105-126445214	K562	blood:	n/a	chr8:126442097-126442106 chr8:126441646-126441655 chr8:126441142-126441154 chr8:126444753-126444765 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
14	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
15	ZBTB7A	chr8:126441246-126442006	ECC-1	luminal epithelium:	n/a	chr8:126441601-126441608
16	TAF1	chr8:126441337-126443272	A549	lung:	n/a	n/a
17	EBF1	chr8:126441242-126441565	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr8:126441272-126443062	SK-N-SH	brain:	n/a	n/a
19	MAX	chr8:126441187-126442785	H1-hESC	embryonic stem cell:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126441848-126441857 chr8:126441515-126441524
20	CEBPB	chr8:126441010-126443155	HCT-116	colon:	n/a	chr8:126442459-126442470 chr8:126442461-126442472 chr8:126442459-126442472 chr8:126442461-126442470
21	E2F6	chr8:126441277-126441709	K562	blood:	n/a	chr8:126441489-126441500 chr8:126441506-126441516
22	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
23	ELF1	chr8:126441251-126443084	GM12878	blood:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
24	MAX	chr8:126441238-126441670	H1-hESC	embryonic stem cell:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441517-126441526 chr8:126441515-126441524
25	POLR2A	chr8:126441290-126441693	A549	lung:	n/a	n/a
26	ZNF384	chr8:126441320-126442839	K562	blood:	n/a	n/a
27	REST	chr8:126440902-126445170	H1-neurons	neurons:	n/a	chr8:126443511-126443524 chr8:126441814-126441834 chr8:126442772-126442785 chr8:126443514-126443527 chr8:126444327-126444340 chr8:126442059-126442077
28	JUND	chr8:126441175-126444754	MCF-7	breast:	n/a	chr8:126442522-126442533 chr8:126442097-126442106 chr8:126441646-126441655 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
29	POLR2A	chr8:126441156-126442987	H1-neurons	neurons:	n/a	n/a
30	MAX	chr8:126440986-126445378	A549	lung:	n/a	chr8:126445237-126445247 chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
31	RAD21	chr8:126441332-126445623	IMR90	lung:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
32	E2F4	chr8:126441341-126443370	K562	blood:	n/a	chr8:126442685-126442694 chr8:126441506-126441516 chr8:126442809-126442819 chr8:126442812-126442822 chr8:126442429-126442438 chr8:126442231-126442240 chr8:126442133-126442145
33	USF1	chr8:126441307-126441713	SK-N-SH_RA	brain:	n/a	chr8:126441644-126441660 chr8:126441513-126441524 chr8:126441652-126441668
34	POLR2A	chr8:126441319-126446312	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr8:126440829-126443161	IMR90	lung:	n/a	n/a
36	MAX	chr8:126441069-126444653	A549	lung:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
37	HCFC1	chr8:126441337-126442942	K562	blood:	n/a	n/a
38	POLR2A	chr8:126441313-126443610	HepG2	liver:	n/a	n/a
39	USF1	chr8:126441306-126441759	SK-N-SH	brain:	n/a	chr8:126441644-126441660 chr8:126441513-126441524 chr8:126441652-126441668
40	TEAD4	chr8:126441300-126441679	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:126441291-126441621	HepG2	liver:	n/a	n/a
42	USF1	chr8:126441326-126441624	H1-hESC	embryonic stem cell:	n/a	chr8:126441513-126441524
43	POLR2A	chr8:126441196-126442809	SK-N-MC	brain:	n/a	n/a
44	TCF7L2	chr8:126441237-126441477	PANC-1	pancreas:	n/a	chr8:126441322-126441332
45	TEAD4	chr8:126441250-126441952	ECC-1	luminal epithelium:	n/a	n/a
46	EBF1	chr8:126441252-126441466	GM12878	blood:	n/a	n/a
47	UBTF	chr8:126441266-126441676	K562	blood:	n/a	n/a
48	TFAP2A	chr8:126441321-126442950	Hela-S3	cervix:	n/a	chr8:126442896-126442907 chr8:126441979-126441987 chr8:126442259-126442271 chr8:126442259-126442271 chr8:126441997-126442008 chr8:126441979-126441987 chr8:126442259-126442271 chr8:126441958-126441973 chr8:126442524-126442533 chr8:126442258-126442273 chr8:126441976-126441990 chr8:126442891-126442906 chr8:126442214-126442225 chr8:126441979-126441987 chr8:126442214-126442226 chr8:126442259-126442271 chr8:126441976-126441990
49	RAD21	chr8:126441039-126445579	SK-N-SH	brain:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
50	TAF1	chr8:126441322-126441691	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126409326..126412304-chr8:126440467..126442135,2	MCF-7	breast:
2	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:
3	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
4	chr16:2014423..2015234-chr8:126441171..126441947,2	Hela-S3	cervix:
5	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
6	chr8:126392836..126396701-chr8:126439754..126442098,3	MCF-7	breast:
7	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
8	chr5:138089739..138090262-chr8:126440998..126441567,2	Hela-S3	cervix:
9	chr8:126136568..126138069-chr8:126439799..126441480,2	MCF-7	breast:
10	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
11	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
12	chr8:126439520..126441495-chr8:126640041..126642897,2	MCF-7	breast:
13	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
14	chr8:126412879..126414831-chr8:126440456..126442134,2	MCF-7	breast:
15	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
16	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
17	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
ENSG00000254431	Chromatin interaction
ENSG00000044115	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000140988	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366048	chr8:126440820-126444518	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126436800-126441400	Weak transcription	Ovary	ovary
2	chr8:126438800-126441400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:126438800-126441400	Weak transcription	Liver	Liver
4	chr8:126439000-126441400	Enhancers	Fetal Thymus	thymus
5	chr8:126439200-126441400	Weak transcription	Esophagus	oesophagus
6	chr8:126440800-126441400	Enhancers	Fetal Heart	heart
7	chr8:126441000-126441400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:126441000-126441400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:126441000-126441400	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr8:126441000-126441400	Flanking Active TSS	Fetal Brain Female	brain
11	chr8:126441000-126441400	Enhancers	Stomach Mucosa	stomach
12	chr8:126441000-126441600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:126441000-126441600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:126441000-126441600	Flanking Active TSS	A549	lung
15	chr8:126441000-126441600	Flanking Active TSS	HepG2	liver
16	chr8:126441000-126441600	Flanking Active TSS	K562	blood
17	chr8:126441000-126441600	Flanking Active TSS	NH-A	brain
18	chr8:126441200-126441400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:126441200-126441400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:126441200-126441400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:126441200-126441400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:126441200-126441400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:126441200-126441400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:126441200-126441400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126441200-126441400	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:126441200-126441400	Enhancers	Primary T cells from cord blood	blood
27	chr8:126441200-126441400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:126441200-126441400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:126441200-126441400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr8:126441200-126441400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:126441200-126441400	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr8:126441200-126441400	Flanking Active TSS	Fetal Kidney	kidney
33	chr8:126441200-126441400	Flanking Active TSS	Fetal Stomach	stomach
34	chr8:126441200-126441400	Enhancers	Lung	lung
35	chr8:126441200-126441400	Flanking Active TSS	Right Atrium	heart
36	chr8:126441200-126441400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:126441200-126441400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr8:126441200-126441600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:126441200-126441600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr8:126441200-126441600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:126441200-126441600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:126441200-126441600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:126441200-126441600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:126441200-126441600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:126441200-126441600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:126441200-126441600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr8:126441200-126441600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr8:126441200-126441600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr8:126441200-126441600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:126441200-126441600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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