Variant report

Variant	rs563875312
Chromosome Location	chr8:126441928-126441929
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	chr8:126441302-126444624	NB4	blood:	n/a	n/a
2	MAFK	chr8:126441805-126442098	HepG2	liver:	n/a	n/a
3	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
4	RCOR1	chr8:126441424-126442972	HepG2	liver:	n/a	n/a
5	CREB1	chr8:126441834-126442655	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr8:126441367-126442955	MCF-7	breast:	n/a	chr8:126442868-126442878 chr8:126441997-126442010
7	EP300	chr8:126441299-126443020	A549	lung:	n/a	chr8:126441791-126441805 chr8:126441924-126441933 chr8:126441792-126441806 chr8:126441955-126441971 chr8:126442812-126442821
8	POLR2A	chr8:126441378-126442118	U87	brain:	n/a	n/a
9	TAF1	chr8:126441702-126442021	SK-N-SH	brain:	n/a	n/a
10	STAT5A	chr8:126441637-126441997	GM12878	blood:	n/a	chr8:126441818-126441842
11	RELA	chr8:126441795-126442780	GM10847	blood:	n/a	n/a
12	NFIC	chr8:126441568-126442222	GM12878	blood:	n/a	n/a
13	PAX5	chr8:126441758-126442196	GM12892	blood:	n/a	n/a
14	POLR2A	chr8:126441705-126443695	A549	lung:	n/a	n/a
15	POLR2A	chr8:126441783-126444482	GM12892	blood:	n/a	n/a
16	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
17	RAD21	chr8:126441295-126442827	SK-N-SH_RA	brain:	n/a	chr8:126441997-126442010
18	RUNX3	chr8:126441659-126442730	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
20	CTCF	chr8:126441780-126441930	HVMF	connective:	n/a	chr8:126441896-126441909
21	HNF4A	chr8:126441926-126442668	HepG2	liver:	n/a	n/a
22	YY1	chr8:126441412-126442212	SK-N-SH_RA	brain:	n/a	chr8:126441925-126441939 chr8:126441651-126441665 chr8:126442119-126442130 chr8:126441651-126441662 chr8:126441925-126441934
23	SIN3A	chr8:126441792-126442008	GM12878	blood:	n/a	chr8:126441955-126441964
24	PAX5	chr8:126441741-126442468	GM12892	blood:	n/a	chr8:126442227-126442236 chr8:126442315-126442324
25	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
26	SMARCC1	chr8:126441764-126444435	Hela-S3	cervix:	n/a	chr8:126442524-126442533
27	EGR1	chr8:126441464-126442717	K562	blood:	n/a	chr8:126442179-126442192 chr8:126441963-126441970 chr8:126442180-126442190 chr8:126442222-126442232 chr8:126442365-126442379 chr8:126442233-126442243 chr8:126441667-126441682 chr8:126441777-126441790 chr8:126442137-126442150 chr8:126442429-126442439 chr8:126442227-126442236 chr8:126442178-126442193
28	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
29	POLR2A	chr8:126441260-126442262	SK-N-SH	brain:	n/a	n/a
30	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
31	YY1	chr8:126441793-126442733	K562	blood:	n/a	chr8:126441925-126441939 chr8:126442226-126442240 chr8:126442243-126442254 chr8:126442429-126442438 chr8:126442119-126442130 chr8:126441925-126441934
32	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
33	ZBTB7A	chr8:126441246-126442006	ECC-1	luminal epithelium:	n/a	chr8:126441601-126441608
34	TAF1	chr8:126441337-126443272	A549	lung:	n/a	n/a
35	POLR2A	chr8:126441357-126443572	HUVEC	blood vessel:	n/a	n/a
36	HA-E2F1	chr8:126441384-126443141	Hela-S3	cervix:	n/a	chr8:126442685-126442694 chr8:126441506-126441516 chr8:126442809-126442819 chr8:126442812-126442822 chr8:126442429-126442438 chr8:126442231-126442240 chr8:126442133-126442145
37	SIN3AK20	chr8:126441272-126443062	SK-N-SH	brain:	n/a	n/a
38	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
39	CEBPB	chr8:126441010-126443155	HCT-116	colon:	n/a	chr8:126442459-126442470 chr8:126442461-126442472 chr8:126442459-126442472 chr8:126442461-126442470
40	BHLHE40	chr8:126441386-126443149	K562	blood:	n/a	chr8:126442012-126442028 chr8:126441910-126441926 chr8:126442807-126442823 chr8:126441644-126441660 chr8:126441652-126441668 chr8:126442813-126442829
41	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
42	ELF1	chr8:126441251-126443084	GM12878	blood:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
43	CTCF	chr8:126441820-126441970	GM06990	blood:	n/a	chr8:126441896-126441909
44	YY1	chr8:126441673-126442016	GM12878	blood:	n/a	chr8:126441925-126441939 chr8:126441925-126441934
45	CTCF	chr8:126441800-126441950	SK-N-SH_RA	brain:	n/a	chr8:126441896-126441909
46	ZNF384	chr8:126441320-126442839	K562	blood:	n/a	n/a
47	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
48	CTCF	chr8:126441780-126441930	HUVEC	blood vessel:	n/a	chr8:126441896-126441909
49	IRF1	chr8:126441523-126442784	K562	blood:	n/a	chr8:126442141-126442150
50	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

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	chr8:126441642..126443564-chr8:127568775..127570380,2	MCF-7	breast:
6	chr8:126441570..126442157-chr9:96928113..96928890,2	Hela-S3	cervix:
7	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
8	chr8:126392836..126396701-chr8:126439754..126442098,3	MCF-7	breast:
9	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
10	chr18:26187575..26188075-chr8:126441565..126442226,2	NB4	blood:
11	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
12	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
13	chr8:126441684..126444249-chr8:127568995..127571626,4	MCF-7	breast:
14	chr19:36544227..36545755-chr8:126441431..126444271,2	MCF-7	breast:
15	chr11:67158736..67159360-chr8:126441508..126442128,2	Hela-S3	cervix:
16	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
17	chr8:126103818..126106100-chr8:126441528..126444004,2	K562	blood:
18	chr8:126412879..126414831-chr8:126440456..126442134,2	MCF-7	breast:
19	chr17:38256169..38256674-chr8:126441503..126442227,2	Hela-S3	cervix:
20	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
21	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
22	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:
23	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
24	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
ENSG00000161277	Chromatin interaction
ENSG00000254286	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000269946	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000168672	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000254010	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000254431	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv1002169	chr8:126441797-126442606	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126441200-126442000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr8:126441200-126442000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:126441200-126442000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:126441200-126442000	Flanking Active TSS	Dnd41	blood
5	chr8:126441200-126442800	Active TSS	Thymus	Thymus
6	chr8:126441200-126443200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:126441200-126443200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:126441200-126443600	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr8:126441200-126444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:126441200-126444600	Active TSS	Brain Angular Gyrus	brain
11	chr8:126441200-126444600	Active TSS	Fetal Lung	lung
12	chr8:126441200-126444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:126441200-126444800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:126441200-126444800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:126441200-126444800	Active TSS	Placenta Amnion	Placenta Amnion
16	chr8:126441200-126444800	Active TSS	Right Ventricle	heart
17	chr8:126441200-126444800	Active TSS	HSMM	muscle
18	chr8:126441200-126444800	Active TSS	HSMMtube	muscle
19	chr8:126441200-126444800	Active TSS	NHDF-Ad	bronchial
20	chr8:126441200-126445000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:126441200-126445000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:126441200-126445000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr8:126441200-126445000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr8:126441200-126445200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:126441200-126445600	Active TSS	Gastric	stomach
26	chr8:126441200-126445600	Active TSS	Small Intestine	intestine
27	chr8:126441400-126442000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:126441400-126442200	Active TSS	Brain Germinal Matrix	brain
29	chr8:126441400-126442800	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:126441400-126443400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr8:126441400-126443400	Weak transcription	Fetal Heart	heart
32	chr8:126441400-126443600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:126441400-126443600	Active TSS	Fetal Brain Female	brain
34	chr8:126441400-126444600	Active TSS	Colon Smooth Muscle	Colon
35	chr8:126441400-126444600	Active TSS	Fetal Stomach	stomach
36	chr8:126441400-126444800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:126441400-126444800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:126441400-126444800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:126441400-126444800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:126441400-126444800	Active TSS	Brain Anterior Caudate	brain
41	chr8:126441400-126444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:126441400-126444800	Active TSS	Fetal Kidney	kidney
43	chr8:126441400-126444800	Active TSS	Stomach Mucosa	stomach
44	chr8:126441400-126445000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:126441400-126445000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:126441400-126445000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:126441400-126445000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:126441400-126445000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:126441400-126445000	Active TSS	Aorta	Aorta
50	chr8:126441400-126445600	Active TSS	Lung	lung

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