Variant report

Variant	rs35619793
Chromosome Location	chr6:64281757-64281758
allele	-/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	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	POLR2A	chr6:64281699-64283884	A549	lung:	n/a	n/a
4	KAP1	chr6:64281327-64282460	HEK293	kidney:	n/a	chr6:64281829-64281838
5	POLR2A	chr6:64281756-64284414	ProgFib	skin:	n/a	n/a
6	FOSL2	chr6:64281584-64282750	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
7	POLR2A	chr6:64281534-64284532	GM18526	blood:	n/a	n/a
8	RCOR1	chr6:64281654-64282686	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:64281726-64282709	K562	blood:	n/a	n/a
10	NFATC1	chr6:64281700-64282301	GM12878	blood:	n/a	n/a
11	JUN	chr6:64281244-64282318	Hela-S3	cervix:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
12	SMC3	chr6:64281423-64282356	HepG2	liver:	n/a	chr6:64281770-64281780
13	MYBL2	chr6:64281097-64282631	HepG2	liver:	n/a	n/a
14	MTA3	chr6:64281531-64282313	GM12878	blood:	n/a	n/a
15	CEBPB	chr6:64281388-64282514	K562	blood:	n/a	n/a
16	MAX	chr6:64281450-64282696	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
17	CTCF	chr6:64281660-64281810	Caco-2	colon:	n/a	n/a
18	POLR2A	chr6:64281683-64283883	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr6:64281555-64282064	ECC-1	luminal epithelium:	n/a	n/a
20	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
21	HEY1	chr6:64281682-64284600	K562	blood:	n/a	chr6:64283529-64283544 chr6:64282276-64282291 chr6:64282913-64282928 chr6:64282238-64282253
22	EBF1	chr6:64281613-64282059	GM12878	blood:	n/a	chr6:64281771-64281782 chr6:64281773-64281782
23	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
24	FOXA1	chr6:64281723-64282082	T-47D	breast:	n/a	n/a
25	NR3C1	chr6:64281564-64282064	A549	lung:	n/a	n/a
26	CTCF	chr6:64281680-64281830	AG10803	skin:	n/a	n/a
27	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
28	POLR2A	chr6:64281734-64283783	A549	lung:	n/a	n/a
29	CREB1	chr6:64281455-64282030	A549	lung:	n/a	n/a
30	POU2F2	chr6:64281654-64282780	GM12878	blood:	n/a	n/a
31	USF1	chr6:64281610-64282054	A549	lung:	n/a	n/a
32	CTCF	chr6:64281591-64281964	IMR90	lung:	n/a	n/a
33	CTCF	chr6:64281700-64281850	RPTEC	kidney:	n/a	n/a
34	NFYB	chr6:64281283-64282556	Hela-S3	cervix:	n/a	chr6:64282318-64282333
35	STAT5A	chr6:64281685-64284185	GM12878	blood:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
36	ZNF143	chr6:64281646-64282557	Hela-S3	cervix:	n/a	n/a
37	YY1	chr6:64281713-64282287	H1-hESC	embryonic stem cell:	n/a	chr6:64282237-64282246 chr6:64282235-64282249 chr6:64282262-64282276 chr6:64282161-64282172 chr6:64282177-64282188 chr6:64282238-64282252 chr6:64282237-64282251
38	CTCF	chr6:64281680-64281830	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr6:64281700-64281850	HMF	breast:	n/a	n/a
40	FOS	chr6:64281310-64282515	MCF10A-Er-Src	breast:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
41	JUND	chr6:64281639-64282491	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
42	CTCF	chr6:64281755-64281862	MCF-7	breast:	n/a	n/a
43	CBX3	chr6:64281443-64282640	HCT-116	colon:	n/a	n/a
44	SMARCC1	chr6:64281321-64282274	Hela-S3	cervix:	n/a	n/a
45	JUND	chr6:64281525-64282673	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
46	POLR2A	chr6:64281673-64284840	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr6:64280071-64285528	MCF10A-Er-Src	breast:	n/a	n/a
48	GATA3	chr6:64281369-64282680	A549	lung:	n/a	n/a
49	CTCF	chr6:64281696-64281865	Hela-S3	cervix:	n/a	n/a
50	MAFK	chr6:64281541-64282455	HepG2	liver:	n/a	chr6:64281826-64281835 chr6:64281865-64281880

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:64281743-64281793	SK-N-MC	brain:	n/a
2	chr6:64281743-64281793	AoSMC	blood vessel:	n/a
3	chr6:64281743-64281793	GM06990	blood:	n/a
4	chr6:64281743-64281793	PFSK-1	brain:	n/a
5	chr6:64281743-64281793	NB4	blood:	n/a
6	chr6:64281743-64281793	HL-60	blood:	n/a
7	chr6:64281743-64281793	HRCEpiC	kidney:	n/a
8	chr6:64281743-64281793	SKMC	muscle:	n/a
9	chr6:64281743-64281793	ECC-1	luminal epithelium:	n/a
10	chr6:64281743-64281793	U87	brain:	n/a
11	chr6:64281743-64281793	PrEC	prostate:	n/a
12	chr6:64281743-64281793	AG04449	skin:	fetal
13	chr6:64281743-64281793	AG04450	lung:	fetal
14	chr6:64281743-64281793	NH-A	brain:	n/a
15	chr6:64281743-64281793	RPTEC	kidney:	n/a
16	chr6:64281743-64281793	GM12891	blood:	n/a
17	chr6:64281743-64281793	HCF	heart:	n/a
18	chr6:64281743-64281793	NHDF-neo	bronchial:	n/a
19	chr6:64281743-64281793	SAEC	small airway:	n/a
20	chr6:64281743-64281793	GM19239	blood:	n/a
21	chr6:64281743-64281793	K562	blood:	n/a
22	chr6:64281743-64281793	HCPEpiC	choroid plexus:	n/a
23	chr6:64281743-64281793	BE2_C	brain:	n/a
24	chr6:64281743-64281793	NHBE	bronchial:	n/a
25	chr6:64281743-64281793	HRE	kidney:	n/a
26	chr6:64281743-64281793	MCF10A-Er-Src	breast:	n/a
27	chr6:64281743-64281793	GM12892	blood:	n/a
28	chr6:64281743-64281793	Caco-2	colon:	n/a
29	chr6:64281743-64281793	A549	lung:	n/a
30	chr6:64281743-64281793	Hepatocyte	liver:	n/a
31	chr6:64281743-64281793	AG09309	skin:	n/a
32	chr6:64281743-64281793	T-47D	breast:	n/a
33	chr6:64281743-64281793	HEEpiC	esophagus:	n/a
34	chr6:64281743-64281793	HNPCEpiC	eye:	n/a
35	chr6:64281743-64281793	MCF-7	breast:	n/a
36	chr6:64281743-64281793	HRPEpiC	eye:	n/a
37	chr6:64281743-64281793	GM12878	blood:	n/a
38	chr6:64281743-64281793	HIPEpiC	eye:	n/a
39	chr6:64281743-64281793	AG09319	gingival:	n/a
40	chr6:64281743-64281793	H1-hESC	embryonic stem cell:	embryo
41	chr6:64281743-64281793	SK-N-SH_RA	brain:	n/a
42	chr6:64281743-64281793	ProgFib	skin:	n/a
43	chr6:64281743-64281793	HepG2	liver:	n/a
44	chr6:64281743-64281793	PANC-1	pancreas:	n/a
45	chr6:64281743-64281793	HMEC	breast:	n/a
46	chr6:64281743-64281793	IMR90	lung:	fetal
47	chr6:64281743-64281793	ovcar-3	ovarian:	n/a
48	chr6:64281743-64281793	AG10803	skin:	n/a
49	chr6:64281743-64281793	NT2-D1	testis:	n/a
50	chr6:64281743-64281793	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:64257894..64259576-chr6:64281719..64283676,2	MCF-7	breast:
2	chr6:64281185..64283276-chr6:64354307..64357055,2	K562	blood:
3	chr6:64104502..64107247-chr6:64280921..64282714,2	K562	blood:
4	chr11:62608640..62609475-chr6:64281113..64281784,2	Hela-S3	cervix:
5	chr21:36260458..36261057-chr6:64281730..64282507,2	Hela-S3	cervix:
6	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
7	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:
8	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
PTP4A1	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000213312	Chromatin interaction
ENSG00000218274	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000118482	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000186432	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:123 , 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	chr6:64280400-64282200	Flanking Active TSS	HepG2	liver
3	chr6:64280400-64285200	Active TSS	Liver	Liver
4	chr6:64281000-64281800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:64281000-64282000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:64281200-64281800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:64281200-64281800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:64281200-64281800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:64281200-64281800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:64281200-64281800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr6:64281200-64281800	Flanking Active TSS	HMEC	breast
12	chr6:64281200-64282000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:64281200-64282000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:64281200-64282000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:64281200-64282000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr6:64281200-64282000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:64281200-64282000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr6:64281200-64282000	Flanking Active TSS	NH-A	brain
19	chr6:64281200-64282200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:64281200-64282200	Flanking Active TSS	NHEK	skin
21	chr6:64281200-64282600	Active TSS	Brain Germinal Matrix	brain
22	chr6:64281200-64282600	Active TSS	A549	lung
23	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
25	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:64281400-64281800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr6:64281400-64281800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:64281400-64281800	Enhancers	Aorta	Aorta
29	chr6:64281400-64281800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr6:64281400-64281800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:64281400-64281800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:64281400-64281800	Flanking Active TSS	Fetal Heart	heart
33	chr6:64281400-64281800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
34	chr6:64281400-64281800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr6:64281400-64281800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
36	chr6:64281400-64282000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr6:64281400-64282000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:64281400-64282000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:64281400-64282000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:64281400-64282000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr6:64281400-64282000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:64281400-64282000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:64281400-64282000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr6:64281400-64282000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:64281400-64282000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr6:64281400-64282000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr6:64281400-64282000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:64281400-64282000	Flanking Active TSS	GM12878-XiMat	blood
49	chr6:64281400-64282000	Flanking Active TSS	Osteobl	bone
50	chr6:64281400-64282200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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