Variant report

Variant	rs561307032
Chromosome Location	chr8:126442346-126442347
allele	G/T
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	FOS	chr8:126442289-126442718	MCF10A-Er-Src	breast:	n/a	chr8:126442522-126442533 chr8:126442520-126442531 chr8:126442524-126442533
2	NR3C1	chr8:126442102-126442714	A549	lung:	n/a	chr8:126442524-126442533 chr8:126442523-126442532
3	TAL1	chr8:126442253-126442780	K562	blood:	n/a	n/a
4	POLR2A	chr8:126441302-126444624	NB4	blood:	n/a	n/a
5	STAT3	chr8:126442340-126442646	Hela-S3	cervix:	n/a	chr8:126442461-126442469
6	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
7	RCOR1	chr8:126441424-126442972	HepG2	liver:	n/a	n/a
8	REST	chr8:126442180-126442702	PANC-1	pancreas:	n/a	n/a
9	JUND	chr8:126442256-126442773	HepG2	liver:	n/a	chr8:126442522-126442533 chr8:126442520-126442531 chr8:126442524-126442533
10	CREB1	chr8:126441834-126442655	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr8:126441367-126442955	MCF-7	breast:	n/a	chr8:126442868-126442878 chr8:126441997-126442010
12	SIN3AK20	chr8:126442107-126443085	K562	blood:	n/a	n/a
13	SIN3AK20	chr8:126442338-126442811	HepG2	liver:	n/a	n/a
14	EP300	chr8:126441299-126443020	A549	lung:	n/a	chr8:126441791-126441805 chr8:126441924-126441933 chr8:126441792-126441806 chr8:126441955-126441971 chr8:126442812-126442821
15	ZBTB33	chr8:126442238-126442751	A549	lung:	n/a	n/a
16	POLR2A	chr8:126442324-126442804	GM12891	blood:	n/a	n/a
17	RELA	chr8:126441795-126442780	GM10847	blood:	n/a	n/a
18	POLR2A	chr8:126441705-126443695	A549	lung:	n/a	n/a
19	POLR2A	chr8:126441783-126444482	GM12892	blood:	n/a	n/a
20	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
21	GATA3	chr8:126442014-126442828	T-47D	breast:	n/a	chr8:126442522-126442531
22	HNF4A	chr8:126442108-126442689	HepG2	liver:	n/a	n/a
23	RAD21	chr8:126441295-126442827	SK-N-SH_RA	brain:	n/a	chr8:126441997-126442010
24	RUNX3	chr8:126441659-126442730	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
26	FOXA1	chr8:126441950-126442776	T-47D	breast:	n/a	chr8:126442479-126442494
27	HNF4A	chr8:126441926-126442668	HepG2	liver:	n/a	n/a
28	TBP	chr8:126442333-126442783	Hela-S3	cervix:	n/a	n/a
29	ZC3H11A	chr8:126442273-126442684	K562	blood:	n/a	n/a
30	HDAC2	chr8:126442122-126442715	K562	blood:	n/a	chr8:126442314-126442323
31	MBD4	chr8:126442182-126442863	HepG2	liver:	n/a	n/a
32	CTCF	chr8:126442300-126442450	GM12864	blood:	n/a	n/a
33	PAX5	chr8:126441741-126442468	GM12892	blood:	n/a	chr8:126442227-126442236 chr8:126442315-126442324
34	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
35	SMARCC1	chr8:126441764-126444435	Hela-S3	cervix:	n/a	chr8:126442524-126442533
36	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
37	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
38	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
39	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
40	HDAC2	chr8:126442071-126442719	HepG2	liver:	n/a	chr8:126442314-126442323
41	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
42	TCF12	chr8:126442076-126442929	A549	lung:	n/a	chr8:126442484-126442493
43	ELF1	chr8:126442288-126442654	HepG2	liver:	n/a	n/a
44	YY1	chr8:126442246-126442693	H1-hESC	embryonic stem cell:	n/a	chr8:126442429-126442438
45	ELF1	chr8:126442276-126442746	A549	lung:	n/a	n/a
46	REST	chr8:126442196-126442765	SK-N-SH	brain:	n/a	n/a
47	TAF1	chr8:126441337-126443272	A549	lung:	n/a	n/a
48	POLR2A	chr8:126441357-126443572	HUVEC	blood vessel:	n/a	n/a
49	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
50	TEAD4	chr8:126442117-126442895	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126442299-126442349	MCF-7	breast:	n/a
2	chr8:126442299-126442349	SK-N-MC	brain:	n/a
3	chr8:126442299-126442349	GM12892	blood:	n/a
4	chr8:126442299-126442349	SK-N-SH	brain:	n/a
5	chr8:126442299-126442349	BJ	skin:	n/a
6	chr8:126442299-126442349	HAEpiC	amniotic membrane:	n/a
7	chr8:126442299-126442349	GM06990	blood:	n/a
8	chr8:126442299-126442349	ovcar-3	ovarian:	n/a
9	chr8:126442299-126442349	HEEpiC	esophagus:	n/a
10	chr8:126442299-126442349	NB4	blood:	n/a
11	chr8:126442299-126442349	HCPEpiC	choroid plexus:	n/a
12	chr8:126442299-126442349	HIPEpiC	eye:	n/a
13	chr8:126442299-126442349	PFSK-1	brain:	n/a
14	chr8:126442299-126442349	Hepatocyte	liver:	n/a
15	chr8:126442299-126442349	T-47D	breast:	n/a
16	chr8:126442299-126442349	IMR90	lung:	fetal
17	chr8:126442299-126442349	LNCaP	prostate:	n/a
18	chr8:126442299-126442349	K562	blood:	n/a
19	chr8:126442299-126442349	NH-A	brain:	n/a
20	chr8:126442299-126442349	HL-60	blood:	n/a
21	chr8:126442299-126442349	HMEC	breast:	n/a
22	chr8:126442299-126442349	PrEC	prostate:	n/a
23	chr8:126442299-126442349	MCF10A-Er-Src	breast:	n/a
24	chr8:126442299-126442349	H1-hESC	embryonic stem cell:	embryo
25	chr8:126442299-126442349	HNPCEpiC	eye:	n/a
26	chr8:126442299-126442349	NHBE	bronchial:	n/a
27	chr8:126442299-126442349	CMK	blood:	n/a
28	chr8:126442299-126442349	PANC-1	pancreas:	n/a
29	chr8:126442299-126442349	GM12878	blood:	n/a
30	chr8:126442299-126442349	RPTEC	kidney:	n/a
31	chr8:126442299-126442349	AG04450	lung:	fetal
32	chr8:126442299-126442349	AG09319	gingival:	n/a
33	chr8:126442299-126442349	U87	brain:	n/a
34	chr8:126442299-126442349	AG04449	skin:	fetal
35	chr8:126442299-126442349	BE2_C	brain:	n/a
36	chr8:126442299-126442349	AoSMC	blood vessel:	n/a
37	chr8:126442299-126442349	HCT-116	colon:	n/a
38	chr8:126442299-126442349	SK-N-SH_RA	brain:	n/a
39	chr8:126442299-126442349	ECC-1	luminal epithelium:	n/a
40	chr8:126442299-126442349	HRE	kidney:	n/a
41	chr8:126442299-126442349	AG10803	skin:	n/a
42	chr8:126442299-126442349	NT2-D1	testis:	n/a
43	chr8:126442299-126442349	SAEC	small airway:	n/a
44	chr8:126442299-126442349	HCF	heart:	n/a
45	chr8:126442299-126442349	HRCEpiC	kidney:	n/a
46	chr8:126442299-126442349	GM19239	blood:	n/a
47	chr8:126442299-126442349	GM12891	blood:	n/a
48	chr8:126442299-126442349	NHDF-neo	bronchial:	n/a
49	chr8:126442299-126442349	A549	lung:	n/a
50	chr8:126442299-126442349	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126281825..126283978-chr8:126442164..126443779,2	K562	blood:
2	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:
3	chr6:97730833..97731489-chr8:126442102..126442847,2	HCT-116	colon:
4	chr8:126441642..126443564-chr8:127568775..127570380,2	MCF-7	breast:
5	chr1:115124113..115124667-chr8:126442091..126442879,2	Hela-S3	cervix:
6	chr19:46233620..46234337-chr8:126442117..126442771,2	Hela-S3	cervix:
7	chr14:21458014..21458635-chr8:126442241..126442991,2	Hela-S3	cervix:
8	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
9	chr6:36515055..36515860-chr8:126442339..126442957,2	HCT-116	colon:
10	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
11	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
12	chr8:126441684..126444249-chr8:127568995..127571626,4	MCF-7	breast:
13	chr19:36544227..36545755-chr8:126441431..126444271,2	MCF-7	breast:
14	chr19:38852887..38853409-chr8:126442063..126443013,2	Hela-S3	cervix:
15	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
16	chr8:126103818..126106100-chr8:126441528..126444004,2	K562	blood:
17	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
18	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
19	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
20	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:
21	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
22	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
TRIB1	CpG island
ENSG00000116752	Chromatin interaction
ENSG00000254286	Chromatin interaction
ENSG00000177051	Chromatin interaction
ENSG00000168672	Chromatin interaction
ENSG00000242170	Chromatin interaction
ENSG00000254431	Chromatin interaction
ENSG00000112079	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000146263	Chromatin interaction
ENSG00000165792	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000254010	Chromatin interaction
ENSG00000226684	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000143761	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	chr8:126441200-126442800	Active TSS	Thymus	Thymus
2	chr8:126441200-126443200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:126441200-126443200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:126441200-126443600	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr8:126441200-126444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:126441200-126444600	Active TSS	Brain Angular Gyrus	brain
7	chr8:126441200-126444600	Active TSS	Fetal Lung	lung
8	chr8:126441200-126444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:126441200-126444800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:126441200-126444800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:126441200-126444800	Active TSS	Placenta Amnion	Placenta Amnion
12	chr8:126441200-126444800	Active TSS	Right Ventricle	heart
13	chr8:126441200-126444800	Active TSS	HSMM	muscle
14	chr8:126441200-126444800	Active TSS	HSMMtube	muscle
15	chr8:126441200-126444800	Active TSS	NHDF-Ad	bronchial
16	chr8:126441200-126445000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:126441200-126445000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:126441200-126445000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:126441200-126445000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:126441200-126445200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:126441200-126445600	Active TSS	Gastric	stomach
22	chr8:126441200-126445600	Active TSS	Small Intestine	intestine
23	chr8:126441400-126442800	Active TSS	Stomach Smooth Muscle	stomach
24	chr8:126441400-126443400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr8:126441400-126443400	Weak transcription	Fetal Heart	heart
26	chr8:126441400-126443600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:126441400-126443600	Active TSS	Fetal Brain Female	brain
28	chr8:126441400-126444600	Active TSS	Colon Smooth Muscle	Colon
29	chr8:126441400-126444600	Active TSS	Fetal Stomach	stomach
30	chr8:126441400-126444800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:126441400-126444800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:126441400-126444800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:126441400-126444800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:126441400-126444800	Active TSS	Brain Anterior Caudate	brain
35	chr8:126441400-126444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:126441400-126444800	Active TSS	Fetal Kidney	kidney
37	chr8:126441400-126444800	Active TSS	Stomach Mucosa	stomach
38	chr8:126441400-126445000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:126441400-126445000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr8:126441400-126445000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:126441400-126445000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:126441400-126445000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:126441400-126445000	Active TSS	Aorta	Aorta
44	chr8:126441400-126445600	Active TSS	Lung	lung
45	chr8:126441600-126442400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:126441600-126442400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:126441600-126442400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr8:126441600-126442600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:126441600-126442600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:126441600-126442800	Active TSS	Fetal Brain Male	brain

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