Variant report

Variant	rs543301440
Chromosome Location	chr6:109804402-109804403
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	chr6:109804146-109804605	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:109804146-109804534	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr6:109804389-109804504	Spleen_OC	spleen:	n/a	chr6:109804493-109804502
4	HCFC1	chr6:109803955-109804550	K562	blood:	n/a	n/a
5	TCF12	chr6:109804124-109804560	A549	lung:	n/a	n/a
6	CTCF	chr6:109804360-109804510	GM12867	blood:	n/a	chr6:109804493-109804502
7	CEBPD	chr6:109804162-109804527	HepG2	liver:	n/a	n/a
8	RFX5	chr6:109804267-109804548	Hela-S3	cervix:	n/a	n/a
9	MYC	chr6:109803793-109804676	A549	lung:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
10	ELF1	chr6:109804253-109804519	A549	lung:	n/a	chr6:109804399-109804408 chr6:109804427-109804438 chr6:109804428-109804437 chr6:109804427-109804438 chr6:109804429-109804438 chr6:109804355-109804367 chr6:109804401-109804413
11	POLR2A	chr6:109803563-109804594	GM19099	blood:	n/a	n/a
12	POLR2A	chr6:109803944-109805084	K562	blood:	n/a	n/a
13	REST	chr6:109804228-109804525	PANC-1	pancreas:	n/a	chr6:109804406-109804419
14	RUNX3	chr6:109804153-109804532	GM12878	blood:	n/a	n/a
15	JUND	chr6:109804263-109804546	A549	lung:	n/a	chr6:109804353-109804362
16	TAF1	chr6:109804257-109804510	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr6:109804160-109804488	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:109804092-109804511	GM12878	blood:	n/a	n/a
19	USF1	chr6:109804213-109804548	A549	lung:	n/a	n/a
20	CTCF	chr6:109804363-109804541	GM12878	blood:	n/a	chr6:109804493-109804502
21	USF2	chr6:109804284-109804642	GM12878	blood:	n/a	chr6:109804471-109804482
22	SIN3AK20	chr6:109803857-109804547	PANC-1	pancreas:	n/a	n/a
23	YY1	chr6:109804003-109804626	GM12892	blood:	n/a	chr6:109804399-109804408 chr6:109804399-109804410 chr6:109804325-109804339 chr6:109804119-109804128 chr6:109804133-109804144 chr6:109804400-109804414
24	CEBPB	chr6:109803647-109804548	HepG2	liver:	n/a	chr6:109803942-109803953
25	E2F6	chr6:109804243-109804672	H1-hESC	embryonic stem cell:	n/a	chr6:109804344-109804353 chr6:109804450-109804465 chr6:109804352-109804361 chr6:109804400-109804410
26	POLR2A	chr6:109804248-109804508	HepG2	liver:	n/a	n/a
27	ELF1	chr6:109804029-109804689	HCT-116	colon:	n/a	chr6:109804399-109804408 chr6:109804427-109804438 chr6:109804428-109804437 chr6:109804427-109804438 chr6:109804429-109804438 chr6:109804355-109804367 chr6:109804401-109804413
28	POLR2A	chr6:109804102-109805063	K562	blood:	n/a	n/a
29	MAX	chr6:109803714-109804746	A549	lung:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
30	POLR2A	chr6:109804116-109804527	SK-N-MC	brain:	n/a	n/a
31	SIN3AK20	chr6:109804243-109804528	HepG2	liver:	n/a	n/a
32	CREB1	chr6:109804091-109804719	HepG2	liver:	n/a	n/a
33	USF1	chr6:109804191-109804574	K562	blood:	n/a	n/a
34	ATF3	chr6:109804272-109804511	HepG2	liver:	n/a	n/a
35	ATF3	chr6:109804313-109804523	K562	blood:	n/a	n/a
36	MAX	chr6:109803788-109805016	NB4	blood:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
37	TAF1	chr6:109804191-109804534	K562	blood:	n/a	n/a
38	POLR2A	chr6:109803635-109805111	Raji	blood:	n/a	n/a
39	ETS1	chr6:109804158-109804537	K562	blood:	n/a	chr6:109804430-109804440 chr6:109804178-109804191 chr6:109804228-109804239 chr6:109804399-109804410 chr6:109804159-109804172 chr6:109804429-109804440
40	JUN	chr6:109803654-109804690	K562	blood:	n/a	chr6:109804353-109804362
41	E2F4	chr6:109803828-109804600	MCF10A-Er-Src	breast:	n/a	chr6:109804344-109804353 chr6:109804450-109804465 chr6:109804352-109804361 chr6:109804400-109804410 chr6:109804195-109804205 chr6:109804119-109804128
42	MXI1	chr6:109803921-109804988	HepG2	liver:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
43	ELK1	chr6:109804301-109804529	Hela-S3	cervix:	n/a	n/a
44	MAX	chr6:109803794-109804686	ECC-1	luminal epithelium:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
45	POLR2A	chr6:109803820-109804550	PFSK-1	brain:	n/a	n/a
46	TBL1XR1	chr6:109804326-109804526	K562	blood:	n/a	n/a
47	E2F6	chr6:109804041-109804529	K562	blood:	n/a	chr6:109804344-109804353 chr6:109804450-109804465 chr6:109804352-109804361 chr6:109804400-109804410 chr6:109804195-109804205 chr6:109804119-109804128
48	YY1	chr6:109804068-109804683	HepG2	liver:	n/a	chr6:109804399-109804408 chr6:109804399-109804410 chr6:109804325-109804339 chr6:109804119-109804128 chr6:109804133-109804144 chr6:109804400-109804414
49	TAF1	chr6:109804220-109804505	PFSK-1	brain:	n/a	n/a
50	PML	chr6:109803677-109804595	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:109804376-109804426	HAEpiC	amniotic membrane:	n/a
2	chr6:109804376-109804426	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:109804376-109804426	HCM	heart:	n/a
4	chr6:109804376-109804426	NB4	blood:	n/a
5	chr6:109804376-109804426	CMK	blood:	n/a
6	chr6:109804376-109804426	HCF	heart:	n/a
7	chr6:109804376-109804426	AoSMC	blood vessel:	n/a
8	chr6:109804376-109804426	AG09319	gingival:	n/a
9	chr6:109804376-109804426	HL-60	blood:	n/a
10	chr6:109804376-109804426	NT2-D1	testis:	n/a
11	chr6:109804376-109804426	GM12891	blood:	n/a
12	chr6:109804376-109804426	Jurkat	blood:	n/a
13	chr6:109804376-109804426	SKMC	muscle:	n/a
14	chr6:109804376-109804426	SK-N-SH_RA	brain:	n/a
15	chr6:109804376-109804426	HIPEpiC	eye:	n/a
16	chr6:109804376-109804426	ProgFib	skin:	n/a
17	chr6:109804376-109804426	PFSK-1	brain:	n/a
18	chr6:109804376-109804426	GM12892	blood:	n/a
19	chr6:109804376-109804426	HRE	kidney:	n/a
20	chr6:109804376-109804426	SK-N-MC	brain:	n/a
21	chr6:109804376-109804426	BE2_C	brain:	n/a
22	chr6:109804376-109804426	H1-hESC	embryonic stem cell:	embryo
23	chr6:109804376-109804426	A549	lung:	n/a
24	chr6:109804376-109804426	HepG2	liver:	n/a
25	chr6:109804376-109804426	SK-N-SH	brain:	n/a
26	chr6:109804376-109804426	PrEC	prostate:	n/a
27	chr6:109804376-109804426	HCT-116	colon:	n/a
28	chr6:109804376-109804426	PANC-1	pancreas:	n/a
29	chr6:109804376-109804426	AG04450	lung:	fetal
30	chr6:109804376-109804426	ovcar-3	ovarian:	n/a
31	chr6:109804376-109804426	GM19239	blood:	n/a
32	chr6:109804376-109804426	K562	blood:	n/a
33	chr6:109804376-109804426	HEK293	kidney:	embryo
34	chr6:109804376-109804426	RPTEC	kidney:	n/a
35	chr6:109804376-109804426	SAEC	small airway:	n/a
36	chr6:109804376-109804426	HEEpiC	esophagus:	n/a
37	chr6:109804376-109804426	Caco-2	colon:	n/a
38	chr6:109804376-109804426	T-47D	breast:	n/a
39	chr6:109804376-109804426	MCF-7	breast:	n/a
40	chr6:109804376-109804426	Hela-S3	cervix:	n/a
41	chr6:109804376-109804426	AG04449	skin:	fetal
42	chr6:109804376-109804426	LNCaP	prostate:	n/a
43	chr6:109804376-109804426	BJ	skin:	n/a
44	chr6:109804376-109804426	ECC-1	luminal epithelium:	n/a
45	chr6:109804376-109804426	AG10803	skin:	n/a
46	chr6:109804376-109804426	Hepatocyte	liver:	n/a
47	chr6:109804376-109804426	MCF10A-Er-Src	breast:	n/a
48	chr6:109804376-109804426	IMR90	lung:	fetal
49	chr6:109804376-109804426	HMEC	breast:	n/a
50	chr6:109804376-109804426	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:109775795..109777582-chr6:109802976..109804493,2	MCF-7	breast:
2	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
3	chr6:109702597..109705942-chr6:109803330..109806291,3	K562	blood:
4	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
5	chr6:109703226..109705290-chr6:109802868..109805423,2	K562	blood:
6	chr6:109787055..109789260-chr6:109802525..109804653,2	K562	blood:
7	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
8	chr6:109802318..109804692-chr6:109827428..109829307,3	MCF-7	breast:
9	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223537	TF binding region
ENSG00000223537	CpG island
ENSG00000185250	Chromatin interaction
ENSG00000135596	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000135587	Chromatin interaction
ENSG00000155085	Chromatin interaction
ENSG00000260273	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	esv3377564	chr6:109803284-109806132	Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	esv3324958	chr6:109803709-109805707	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109803000-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:109803200-109804800	Active TSS	HSMMtube	muscle
3	chr6:109803200-109805000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:109803200-109805000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:109803200-109805000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:109803200-109805000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:109803200-109805000	Active TSS	Aorta	Aorta
8	chr6:109803200-109805000	Active TSS	Fetal Kidney	kidney
9	chr6:109803200-109805200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:109803200-109805400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:109803400-109805000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:109803400-109805000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:109803400-109805000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:109803400-109805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:109803400-109805000	Active TSS	A549	lung
16	chr6:109803400-109805000	Active TSS	Hela-S3	cervix
17	chr6:109803400-109805000	Active TSS	K562	blood
18	chr6:109803400-109805000	Active TSS	NH-A	brain
19	chr6:109803400-109805000	Active TSS	NHDF-Ad	bronchial
20	chr6:109803400-109805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:109803400-109805200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:109803400-109805200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:109803400-109805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:109803400-109805200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr6:109803400-109805200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:109803400-109805200	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:109803400-109805200	Active TSS	Osteobl	bone
28	chr6:109803400-109805400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:109803400-109805400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:109803400-109805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:109803400-109805400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:109803400-109805400	Active TSS	GM12878-XiMat	blood
33	chr6:109803400-109805400	Active TSS	NHEK	skin
34	chr6:109803400-109805400	Active TSS	NHLF	lung
35	chr6:109803600-109804800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:109803600-109804800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr6:109803600-109805000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:109803600-109805000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:109803600-109805000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:109803600-109805000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:109803600-109805000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:109803600-109805000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:109803600-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:109803600-109805000	Active TSS	Brain Angular Gyrus	brain
45	chr6:109803600-109805000	Active TSS	Brain Anterior Caudate	brain
46	chr6:109803600-109805000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:109803600-109805000	Active TSS	Brain Substantia Nigra	brain
48	chr6:109803600-109805000	Active TSS	Duodenum Mucosa	Duodenum
49	chr6:109803600-109805000	Active TSS	Esophagus	oesophagus
50	chr6:109803600-109805000	Active TSS	Fetal Brain Female	brain

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