Variant report

Variant	rs1125771
Chromosome Location	chr6:64281505-64281506
allele	C/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	ZNF143	chr6:64281473-64282695	GM12878	blood:	n/a	n/a
2	STAT3	chr6:64281504-64282321	MCF10A-Er-Src	breast:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
3	KAP1	chr6:64281327-64282460	HEK293	kidney:	n/a	chr6:64281829-64281838
4	JUN	chr6:64281244-64282318	Hela-S3	cervix:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
5	SMC3	chr6:64281423-64282356	HepG2	liver:	n/a	chr6:64281770-64281780
6	MYBL2	chr6:64281097-64282631	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:64281388-64282514	K562	blood:	n/a	n/a
8	MAX	chr6:64281450-64282696	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
9	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
10	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
11	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
12	CUX1	chr6:64281228-64281634	K562	blood:	n/a	n/a
13	CREB1	chr6:64281455-64282030	A549	lung:	n/a	n/a
14	NFYB	chr6:64281283-64282556	Hela-S3	cervix:	n/a	chr6:64282318-64282333
15	FOS	chr6:64281310-64282515	MCF10A-Er-Src	breast:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
16	CBX3	chr6:64281443-64282640	HCT-116	colon:	n/a	n/a
17	SMARCC1	chr6:64281321-64282274	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:64280071-64285528	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA3	chr6:64281369-64282680	A549	lung:	n/a	n/a
20	PRDM1	chr6:64280939-64282098	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr6:64281450-64284518	HepG2	liver:	n/a	chr6:64283784-64283791
22	ZEB1	chr6:64281147-64284682	HepG2	liver:	n/a	n/a
23	EP300	chr6:64281494-64282544	ECC-1	luminal epithelium:	n/a	chr6:64282239-64282248 chr6:64282153-64282166 chr6:64282241-64282250 chr6:64282236-64282245
24	MAX	chr6:64281153-64282737	Hela-S3	cervix:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
25	POLR2A	chr6:64281436-64284504	HepG2	liver:	n/a	n/a
26	MAX	chr6:64281357-64284636	HCT-116	colon:	n/a	chr6:64284625-64284634 chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275 chr6:64284626-64284635
27	POLR2A	chr6:64281143-64285005	GM12878	blood:	n/a	n/a
28	EP300	chr6:64281383-64282606	HepG2	liver:	n/a	chr6:64282239-64282248 chr6:64282153-64282166 chr6:64282241-64282250 chr6:64281475-64281483 chr6:64282236-64282245
29	POLR2A	chr6:64279467-64285844	HepG2	liver:	n/a	n/a
30	GATA3	chr6:64281154-64282890	A549	lung:	n/a	n/a
31	POLR2A	chr6:64281397-64284016	H1-neurons	neurons:	n/a	n/a
32	FOS	chr6:64281383-64282450	MCF10A-Er-Src	breast:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
33	RFX5	chr6:64281117-64282814	SK-N-SH	brain:	n/a	n/a
34	MYC	chr6:64281437-64284060	NB4	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
35	ARID3A	chr6:64281418-64282668	HepG2	liver:	n/a	n/a
36	FOSL2	chr6:64281381-64282779	A549	lung:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
37	TEAD4	chr6:64281282-64282635	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:64280685-64285889	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr6:64281440-64282691	HepG2	liver:	n/a	n/a
40	EP300	chr6:64281140-64282612	A549	lung:	n/a	chr6:64282239-64282248 chr6:64282153-64282166 chr6:64282241-64282250 chr6:64281475-64281483 chr6:64282236-64282245
41	FOXA2	chr6:64281468-64282045	HepG2	liver:	n/a	n/a
42	SP1	chr6:64281152-64282736	A549	lung:	n/a	chr6:64282268-64282277 chr6:64282266-64282278 chr6:64282179-64282188 chr6:64282275-64282287 chr6:64282277-64282286 chr6:64282267-64282276 chr6:64282275-64282287 chr6:64282180-64282189 chr6:64282266-64282278 chr6:64282169-64282183 chr6:64282266-64282277
43	EP300	chr6:64281446-64282918	HepG2	liver:	n/a	chr6:64282239-64282248 chr6:64282899-64282908 chr6:64282153-64282166 chr6:64282241-64282250 chr6:64281475-64281483 chr6:64282236-64282245 chr6:64282607-64282617
44	JUND	chr6:64281056-64282438	Hela-S3	cervix:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
45	RFX5	chr6:64281492-64282788	HepG2	liver:	n/a	n/a
46	CEBPB	chr6:64281385-64282442	HepG2	liver:	n/a	n/a
47	MAX	chr6:64281460-64282534	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
48	RFX5	chr6:64281132-64282654	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr6:64281286-64282507	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:64281152-64285213	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:64281185..64283276-chr6:64354307..64357055,2	K562	blood:
2	chr6:64104502..64107247-chr6:64280921..64282714,2	K562	blood:
3	chr11:62608640..62609475-chr6:64281113..64281784,2	Hela-S3	cervix:
4	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
5	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:
6	chr3:160282691..160283640-chr6:64281427..64281973,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EYS-2	chr6:64280910-64282313	ENSG00000266680.1

Variant related genes	Relation type
PTP4A1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000118482	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000218274	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	esv3373173	chr6:64281418-64284366	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64276200-64281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:64276600-64281600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:64276600-64281600	Weak transcription	Placenta	Placenta
4	chr6:64280200-64281600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:64280200-64281600	Weak transcription	Pancreas	Pancrea
6	chr6:64280400-64282200	Flanking Active TSS	HepG2	liver
7	chr6:64280400-64285200	Active TSS	Liver	Liver
8	chr6:64281000-64281600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:64281000-64281600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:64281000-64281600	Flanking Active TSS	Hela-S3	cervix
11	chr6:64281000-64281800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:64281000-64282000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:64281200-64281600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:64281200-64281600	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:64281200-64281600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:64281200-64281600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:64281200-64281600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:64281200-64281600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:64281200-64281600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:64281200-64281600	Flanking Active TSS	Fetal Brain Male	brain
21	chr6:64281200-64281600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr6:64281200-64281600	Enhancers	Fetal Thymus	thymus
23	chr6:64281200-64281600	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:64281200-64281600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:64281200-64281600	Enhancers	Stomach Mucosa	stomach
26	chr6:64281200-64281600	Enhancers	K562	blood
27	chr6:64281200-64281800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:64281200-64281800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:64281200-64281800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:64281200-64281800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:64281200-64281800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:64281200-64281800	Flanking Active TSS	HMEC	breast
33	chr6:64281200-64282000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:64281200-64282000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr6:64281200-64282000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:64281200-64282000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr6:64281200-64282000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:64281200-64282000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr6:64281200-64282000	Flanking Active TSS	NH-A	brain
40	chr6:64281200-64282200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:64281200-64282200	Flanking Active TSS	NHEK	skin
42	chr6:64281200-64282600	Active TSS	Brain Germinal Matrix	brain
43	chr6:64281200-64282600	Active TSS	A549	lung
44	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
46	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:64281400-64281600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:64281400-64281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:64281400-64281600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:64281400-64281600	Active TSS	Primary B cells from cord blood	blood

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