Variant report

Variant	rs535586118
Chromosome Location	chr6:109804248-109804249
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	chr6:109804146-109804605	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:109804146-109804534	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr6:109803955-109804550	K562	blood:	n/a	n/a
4	TCF12	chr6:109804124-109804560	A549	lung:	n/a	n/a
5	CEBPD	chr6:109804162-109804527	HepG2	liver:	n/a	n/a
6	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
7	POLR2A	chr6:109803563-109804594	GM19099	blood:	n/a	n/a
8	POLR2A	chr6:109803944-109805084	K562	blood:	n/a	n/a
9	CHD1	chr6:109803863-109804345	GM12878	blood:	n/a	n/a
10	REST	chr6:109804228-109804525	PANC-1	pancreas:	n/a	chr6:109804406-109804419
11	RUNX3	chr6:109804153-109804532	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:109804160-109804488	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:109804092-109804511	GM12878	blood:	n/a	n/a
14	USF1	chr6:109804213-109804548	A549	lung:	n/a	n/a
15	SIN3AK20	chr6:109803857-109804547	PANC-1	pancreas:	n/a	n/a
16	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
17	CEBPB	chr6:109803647-109804548	HepG2	liver:	n/a	chr6:109803942-109803953
18	E2F6	chr6:109804243-109804672	H1-hESC	embryonic stem cell:	n/a	chr6:109804344-109804353 chr6:109804450-109804465 chr6:109804352-109804361 chr6:109804400-109804410
19	POLR2A	chr6:109804248-109804508	HepG2	liver:	n/a	n/a
20	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
21	POLR2A	chr6:109804102-109805063	K562	blood:	n/a	n/a
22	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
23	POLR2A	chr6:109804116-109804527	SK-N-MC	brain:	n/a	n/a
24	SIN3AK20	chr6:109804243-109804528	HepG2	liver:	n/a	n/a
25	CREB1	chr6:109804091-109804719	HepG2	liver:	n/a	n/a
26	USF1	chr6:109804191-109804574	K562	blood:	n/a	n/a
27	CTCF	chr6:109804120-109804270	GM12875	blood:	n/a	chr6:109804141-109804150
28	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
29	TAF1	chr6:109804191-109804534	K562	blood:	n/a	n/a
30	POLR2A	chr6:109803635-109805111	Raji	blood:	n/a	n/a
31	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
32	JUN	chr6:109803654-109804690	K562	blood:	n/a	chr6:109804353-109804362
33	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
34	MXI1	chr6:109803921-109804988	HepG2	liver:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
35	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
36	POLR2A	chr6:109803820-109804550	PFSK-1	brain:	n/a	n/a
37	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
38	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
39	TAF1	chr6:109804220-109804505	PFSK-1	brain:	n/a	n/a
40	PML	chr6:109803677-109804595	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:109803997-109804528	K562	blood:	n/a	n/a
42	POLR2A	chr6:109803705-109804526	GM12878	blood:	n/a	n/a
43	MAX	chr6:109803824-109804727	SK-N-SH	brain:	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
44	HEY1	chr6:109803897-109804540	K562	blood:	n/a	chr6:109804395-109804410 chr6:109804398-109804413 chr6:109804120-109804135 chr6:109804366-109804381 chr6:109804346-109804361
45	POLR2A	chr6:109804099-109804537	GM12892	blood:	n/a	n/a
46	POLR2A	chr6:109804157-109804520	GM12891	blood:	n/a	n/a
47	JUND	chr6:109804244-109804469	H1-hESC	embryonic stem cell:	n/a	chr6:109804353-109804362
48	USF1	chr6:109804248-109804529	A549	lung:	n/a	n/a
49	POLR2A	chr6:109804231-109804512	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:109803682-109804578	MCF10A-Er-Src	breast:	n/a	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
ENSG00000135535	Chromatin interaction
ENSG00000155085	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000135587	Chromatin interaction
ENSG00000135596	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109801400-109804400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
2	chr6:109803000-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:109803200-109804400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:109803200-109804400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:109803200-109804800	Active TSS	HSMMtube	muscle
6	chr6:109803200-109805000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:109803200-109805000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:109803200-109805000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:109803200-109805000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:109803200-109805000	Active TSS	Aorta	Aorta
11	chr6:109803200-109805000	Active TSS	Fetal Kidney	kidney
12	chr6:109803200-109805200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:109803200-109805400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:109803400-109805000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:109803400-109805000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:109803400-109805000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:109803400-109805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:109803400-109805000	Active TSS	A549	lung
19	chr6:109803400-109805000	Active TSS	Hela-S3	cervix
20	chr6:109803400-109805000	Active TSS	K562	blood
21	chr6:109803400-109805000	Active TSS	NH-A	brain
22	chr6:109803400-109805000	Active TSS	NHDF-Ad	bronchial
23	chr6:109803400-109805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:109803400-109805200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:109803400-109805200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:109803400-109805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:109803400-109805200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr6:109803400-109805200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr6:109803400-109805200	Active TSS	Rectal Smooth Muscle	rectum
30	chr6:109803400-109805200	Active TSS	Osteobl	bone
31	chr6:109803400-109805400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:109803400-109805400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:109803400-109805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:109803400-109805400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:109803400-109805400	Active TSS	GM12878-XiMat	blood
36	chr6:109803400-109805400	Active TSS	NHEK	skin
37	chr6:109803400-109805400	Active TSS	NHLF	lung
38	chr6:109803600-109804800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:109803600-109804800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr6:109803600-109805000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr6:109803600-109805000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:109803600-109805000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:109803600-109805000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:109803600-109805000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:109803600-109805000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:109803600-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:109803600-109805000	Active TSS	Brain Angular Gyrus	brain
48	chr6:109803600-109805000	Active TSS	Brain Anterior Caudate	brain
49	chr6:109803600-109805000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:109803600-109805000	Active TSS	Brain Substantia Nigra	brain

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