Variant report

Variant	rs569254389
Chromosome Location	chr6:117803640-117803641
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	IRF1	chr6:117803600-117803999	K562	blood:	n/a	n/a
2	TCF7L2	chr6:117803450-117804033	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:117803392-117804753	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr6:117803350-117805179	K562	blood:	n/a	n/a
5	POLR2A	chr6:117803471-117804278	A549	lung:	n/a	n/a
6	KAP1	chr6:117802970-117803647	HEK293	kidney:	n/a	n/a
7	POLR2A	chr6:117803169-117805197	SK-N-SH	brain:	n/a	n/a
8	YY1	chr6:117803362-117804138	ECC-1	luminal epithelium:	n/a	chr6:117803866-117803880 chr6:117803493-117803507
9	POLR2A	chr6:117803222-117805163	HUVEC	blood vessel:	n/a	n/a
10	ZEB1	chr6:117802335-117803996	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:117803446-117804321	GM12878	blood:	n/a	n/a
12	ZNF143	chr6:117803445-117804107	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr6:117803459-117804056	H1-hESC	embryonic stem cell:	n/a	chr6:117803663-117803672
14	CTCF	chr6:117803540-117803690	HCM	heart:	n/a	chr6:117803630-117803643
15	MAZ	chr6:117803484-117804919	HepG2	liver:	n/a	n/a
16	TAF1	chr6:117803432-117804261	HepG2	liver:	n/a	n/a
17	EGR1	chr6:117803599-117803887	GM12878	blood:	n/a	chr6:117803769-117803782 chr6:117803766-117803780 chr6:117803769-117803782 chr6:117803658-117803668 chr6:117803768-117803782 chr6:117803769-117803782 chr6:117803770-117803779 chr6:117803770-117803780 chr6:117803770-117803780 chr6:117803770-117803781
18	CTCF	chr6:117803480-117803770	GM12874	blood:	n/a	chr6:117803630-117803643
19	POLR2A	chr6:117803327-117804602	A549	lung:	n/a	n/a
20	POLR2A	chr6:117803515-117804923	U87	brain:	n/a	n/a
21	TEAD4	chr6:117802968-117803750	HepG2	liver:	n/a	n/a
22	EGR1	chr6:117803463-117804022	H1-hESC	embryonic stem cell:	n/a	chr6:117803769-117803782 chr6:117803770-117803779 chr6:117803766-117803780 chr6:117803768-117803782 chr6:117803770-117803781 chr6:117803769-117803782 chr6:117803769-117803782 chr6:117803658-117803668 chr6:117803770-117803780 chr6:117803770-117803780
23	MAX	chr6:117803223-117805130	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr6:117803339-117804174	ECC-1	luminal epithelium:	n/a	chr6:117803627-117803637
25	MAZ	chr6:117803414-117804972	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:117803540-117803690	SAEC	small airway:	n/a	chr6:117803630-117803643
27	POLR2A	chr6:117803436-117804284	A549	lung:	n/a	n/a
28	TEAD4	chr6:117803391-117804744	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr6:117803395-117804285	HepG2	liver:	n/a	n/a
30	MAX	chr6:117803310-117805169	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr6:117803620-117803770	HA-sp	spinal cord:	n/a	chr6:117803630-117803643
32	CTCF	chr6:117803640-117803790	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:117803484-117805042	K562	blood:	n/a	n/a
34	HDAC2	chr6:117803314-117803988	MCF-7	breast:	n/a	n/a
35	TBP	chr6:117803489-117805179	K562	blood:	n/a	n/a
36	NFIC	chr6:117803350-117803994	ECC-1	luminal epithelium:	n/a	n/a
37	ETS1	chr6:117803445-117804222	K562	blood:	n/a	chr6:117804181-117804188 chr6:117803719-117803726 chr6:117803661-117803672
38	GABPA	chr6:117803465-117804290	K562	blood:	n/a	chr6:117803663-117803672
39	YY1	chr6:117803561-117804284	K562	blood:	n/a	chr6:117803866-117803880
40	TEAD4	chr6:117803401-117803870	K562	blood:	n/a	n/a
41	CCNT2	chr6:117803477-117804823	K562	blood:	n/a	chr6:117804231-117804240
42	MYBL2	chr6:117802336-117804909	HepG2	liver:	n/a	n/a
43	ELF1	chr6:117803442-117804411	HepG2	liver:	n/a	chr6:117803717-117803730 chr6:117804369-117804382 chr6:117803500-117803512 chr6:117803680-117803689 chr6:117803719-117803730 chr6:117803837-117803849
44	HNF4G	chr6:117803449-117804014	HepG2	liver:	n/a	n/a
45	CTCF	chr6:117803620-117803770	GM12864	blood:	n/a	chr6:117803630-117803643
46	EP300	chr6:117803394-117804569	HepG2	liver:	n/a	chr6:117803719-117803728 chr6:117803663-117803672 chr6:117804337-117804346 chr6:117803775-117803791 chr6:117804486-117804502 chr6:117803872-117803888
47	POLR2A	chr6:117803408-117804064	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:117803503-117804916	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:117803419-117805110	GM19099	blood:	n/a	n/a
50	CTCF	chr6:117803560-117803710	GM06990	blood:	n/a	chr6:117803630-117803643

No.	Distal block	Cell Line	Cell type
1	chr6:117802655..117804398-chr6:117864844..117866459,3	MCF-7	breast:
2	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
3	chr6:117803575..117805462-chr6:117921337..117926516,4	K562	blood:
4	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
5	chr6:117803211..117805462-chr6:117921337..117926538,8	K562	blood:
6	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
7	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:
8	chr6:117803267..117806417-chr6:117823935..117828011,5	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000260000	Chromatin interaction
ENSG00000164465	Chromatin interaction
ENSG00000112249	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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3434198	chr6:117802809-117805457	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:117802600-117803800	Bivalent Enhancer	Fetal Thymus	thymus
4	chr6:117802600-117804000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:117802600-117804800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:117802600-117805000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:117802800-117803800	Flanking Active TSS	Colonic Mucosa	Colon
8	chr6:117802800-117804400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:117802800-117804800	Active TSS	Brain Hippocampus Middle	brain
10	chr6:117802800-117804800	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr6:117802800-117805000	Active TSS	Gastric	stomach
12	chr6:117802800-117805200	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:117802800-117805600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:117803000-117803800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr6:117803000-117805000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:117803000-117805000	Active TSS	Brain Substantia Nigra	brain
17	chr6:117803000-117805600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:117803200-117803800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:117803200-117804200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:117803200-117804600	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr6:117803200-117804800	Active TSS	Colon Smooth Muscle	Colon
22	chr6:117803200-117805000	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:117803200-117805200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:117803200-117805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:117803200-117805200	Active TSS	Fetal Intestine Large	intestine
26	chr6:117803200-117805600	Active TSS	Psoas Muscle	Psoas
27	chr6:117803200-117805600	Active TSS	NHDF-Ad	bronchial
28	chr6:117803200-117806000	Active TSS	NHLF	lung
29	chr6:117803200-117806200	Active TSS	HSMMtube	muscle
30	chr6:117803400-117803800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:117803400-117803800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
32	chr6:117803400-117803800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:117803400-117803800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr6:117803400-117803800	Active TSS	Right Atrium	heart
35	chr6:117803400-117804400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:117803400-117804400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:117803400-117804400	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr6:117803400-117804800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:117803400-117804800	Active TSS	Brain Angular Gyrus	brain
40	chr6:117803400-117805000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:117803400-117805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:117803400-117805000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:117803400-117805000	Active TSS	Fetal Kidney	kidney
44	chr6:117803400-117805200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:117803400-117805200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr6:117803400-117805200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:117803400-117805200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:117803400-117805200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:117803400-117805200	Active TSS	Esophagus	oesophagus
50	chr6:117803400-117805200	Active TSS	Lung	lung

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