Variant report

Variant	rs6900283
Chromosome Location	chr6:133562346-133562347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr6:133562183-133562768	A549	lung:	n/a	chr6:133562191-133562200
2	MAX	chr6:133561411-133564645	Hela-S3	cervix:	n/a	chr6:133563073-133563082 chr6:133562175-133562185
3	TCF12	chr6:133562148-133562884	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:133561597-133563777	HEK293	kidney:	n/a	n/a
5	E2F6	chr6:133562242-133562687	A549	lung:	n/a	n/a
6	EGR1	chr6:133562253-133562623	ECC-1	luminal epithelium:	n/a	chr6:133562416-133562425 chr6:133562415-133562425 chr6:133562415-133562428 chr6:133562254-133562261
7	MAX	chr6:133562263-133562652	MCF-7	breast:	n/a	n/a
8	MYC	chr6:133562230-133562789	A549	lung:	n/a	n/a
9	TAF1	chr6:133561520-133563623	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr6:133561485-133564625	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr6:133562324-133562839	H1-neurons	neurons:	n/a	n/a
12	MAX	chr6:133562231-133563010	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr6:133562125-133562778	ECC-1	luminal epithelium:	n/a	n/a
14	YY1	chr6:133562292-133562655	ECC-1	luminal epithelium:	n/a	chr6:133562417-133562426 chr6:133562417-133562428 chr6:133562453-133562467
15	JUND	chr6:133562300-133562575	A549	lung:	n/a	n/a
16	MAX	chr6:133561457-133563236	ECC-1	luminal epithelium:	n/a	chr6:133563073-133563082 chr6:133562175-133562185
17	CREB1	chr6:133562245-133562711	A549	lung:	n/a	n/a
18	MAX	chr6:133562275-133562772	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:133562340-133562490	AG04450	lung:	n/a	n/a
20	ZBTB7A	chr6:133561797-133562562	ECC-1	luminal epithelium:	n/a	chr6:133561998-133562006
21	POLR2A	chr6:133561680-133563069	U87	brain:	n/a	n/a
22	CHD2	chr6:133561606-133564777	Hela-S3	cervix:	n/a	chr6:133562178-133562188
23	BRCA1	chr6:133561423-133562630	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:133562296-133562979	Hela-S3	cervix:	n/a	n/a
25	CTBP2	chr6:133561720-133564308	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr6:133561811-133562636	IMR90	lung:	n/a	chr6:133562171-133562184 chr6:133561992-133562005
27	POLR2A	chr6:133561537-133564670	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:133562214-133562870	ECC-1	luminal epithelium:	n/a	n/a
29	MXI1	chr6:133561495-133564967	IMR90	lung:	n/a	n/a
30	POLR2A	chr6:133562283-133562608	A549	lung:	n/a	n/a
31	POLR2A	chr6:133562182-133562749	A549	lung:	n/a	n/a
32	POLR2A	chr6:133561574-133564470	Hela-S3	cervix:	n/a	n/a
33	TCF12	chr6:133561546-133563551	A549	lung:	n/a	n/a
34	MXI1	chr6:133561492-133562878	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:133561436-133563623	A549	lung:	n/a	chr6:133563073-133563082 chr6:133562175-133562185
36	POLR2A	chr6:133562303-133562898	Hela-S3	cervix:	n/a	n/a
37	MYC	chr6:133562325-133562549	MCF-7	breast:	n/a	n/a
38	MAX	chr6:133562307-133562738	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr6:133562340-133562490	WERI-Rb-1	eye:	n/a	n/a
40	SMARCB1	chr6:133561661-133564278	Hela-S3	cervix:	n/a	n/a
41	TEAD4	chr6:133562182-133563226	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr6:133561591-133563676	Hela-S3	cervix:	n/a	chr6:133563073-133563082 chr6:133562175-133562185
43	POLR2A	chr6:133561685-133562931	U87	brain:	n/a	n/a
44	PAX5	chr6:133562253-133562459	GM12892	blood:	n/a	chr6:133562422-133562441
45	EP300	chr6:133561502-133564863	ECC-1	luminal epithelium:	n/a	chr6:133564793-133564807 chr6:133562188-133562197 chr6:133562216-133562225
46	POLR2A	chr6:133561606-133562845	A549	lung:	n/a	n/a
47	E2F6	chr6:133562287-133562867	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:133562175-133562605	A549	lung:	n/a	n/a
49	CTCF	chr6:133562340-133562490	A549	lung:	n/a	n/a
50	CTCF	chr6:133562340-133562490	AG04449	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:133562332-133562382	HCT-116	colon:	n/a
2	chr6:133562336-133562386	SAEC	small airway:	n/a
3	chr6:133562332-133562382	NHBE	bronchial:	n/a
4	chr6:133562336-133562386	U87	brain:	n/a
5	chr6:133562332-133562382	SK-N-MC	brain:	n/a
6	chr6:133562334-133562384	HCT-116	colon:	n/a
7	chr6:133562334-133562384	H1-hESC	embryonic stem cell:	embryo
8	chr6:133562334-133562384	HNPCEpiC	eye:	n/a
9	chr6:133562332-133562382	GM12878	blood:	n/a
10	chr6:133562336-133562386	Hepatocyte	liver:	n/a
11	chr6:133562334-133562384	PANC-1	pancreas:	n/a
12	chr6:133562332-133562382	Jurkat	blood:	n/a
13	chr6:133562332-133562382	HRPEpiC	eye:	n/a
14	chr6:133562334-133562384	SK-N-MC	brain:	n/a
15	chr6:133562332-133562382	GM12892	blood:	n/a
16	chr6:133562332-133562382	CMK	blood:	n/a
17	chr6:133562336-133562386	MCF-7	breast:	n/a
18	chr6:133562332-133562382	IMR90	lung:	fetal
19	chr6:133562334-133562384	SK-N-SH	brain:	n/a
20	chr6:133562334-133562384	HRPEpiC	eye:	n/a
21	chr6:133562334-133562384	HMEC	breast:	n/a
22	chr6:133562334-133562384	NHBE	bronchial:	n/a
23	chr6:133562334-133562384	MCF-7	breast:	n/a
24	chr6:133562334-133562384	ECC-1	luminal epithelium:	n/a
25	chr6:133562332-133562382	HepG2	liver:	n/a
26	chr6:133562336-133562386	HCM	heart:	n/a
27	chr6:133562334-133562384	HUVEC	blood vessel:	n/a
28	chr6:133562336-133562386	SKMC	muscle:	n/a
29	chr6:133562334-133562384	BJ	skin:	n/a
30	chr6:133562334-133562384	Jurkat	blood:	n/a
31	chr6:133562332-133562382	HNPCEpiC	eye:	n/a
32	chr6:133562332-133562382	MCF-7	breast:	n/a
33	chr6:133562336-133562386	AG10803	skin:	n/a
34	chr6:133562336-133562386	HUVEC	blood vessel:	n/a
35	chr6:133562334-133562384	A549	lung:	n/a
36	chr6:133562334-133562384	HRE	kidney:	n/a
37	chr6:133562332-133562382	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:133562336-133562386	NHDF-neo	bronchial:	n/a
39	chr6:133562334-133562384	CMK	blood:	n/a
40	chr6:133562332-133562382	HEK293	kidney:	embryo
41	chr6:133562334-133562384	NB4	blood:	n/a
42	chr6:133562336-133562386	HEK293	kidney:	embryo
43	chr6:133562332-133562382	U87	brain:	n/a
44	chr6:133562332-133562382	HMEC	breast:	n/a
45	chr6:133562336-133562386	HCF	heart:	n/a
46	chr6:133562336-133562386	HMEC	breast:	n/a
47	chr6:133562334-133562384	MCF10A-Er-Src	breast:	n/a
48	chr6:133562334-133562384	AG09319	gingival:	n/a
49	chr6:133562332-133562382	HUVEC	blood vessel:	n/a
50	chr6:133562336-133562386	HCPEpiC	choroid plexus:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133561719..133562540-chr9:100684595..100685146,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
EYA4	TF binding region
EYA4	CpG island
ENSG00000136932	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58728165	0.82[AMR][1000 genomes]
rs61143962	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133561400-133563400	Bivalent/Poised TSS	Fetal Lung	lung
2	chr6:133561400-133563600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:133561400-133564000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:133561400-133564400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:133561400-133564600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:133561400-133564800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:133561400-133565200	Active TSS	HSMMtube	muscle
8	chr6:133561400-133565400	Active TSS	Hela-S3	cervix
9	chr6:133561400-133565800	Active TSS	A549	lung
10	chr6:133561400-133566400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:133561600-133562400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:133561600-133562400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr6:133561600-133562400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:133561600-133562400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr6:133561600-133562400	Active TSS	Pancreas	Pancrea
16	chr6:133561600-133562400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr6:133561600-133562600	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr6:133561600-133562800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:133561600-133562800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:133561600-133563600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:133561600-133563600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr6:133561600-133563600	Active TSS	Brain Substantia Nigra	brain
23	chr6:133561600-133563600	Active TSS	HSMM	muscle
24	chr6:133561600-133563800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr6:133561600-133563800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:133561600-133563800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:133561600-133563800	Active TSS	Left Ventricle	heart
28	chr6:133561600-133564000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr6:133561600-133564200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:133561600-133564200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:133561600-133564200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:133561600-133564200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:133561600-133564400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:133561600-133564400	Bivalent/Poised TSS	Thymus	Thymus
35	chr6:133561600-133565000	Active TSS	Right Ventricle	heart
36	chr6:133561600-133565200	Bivalent/Poised TSS	Fetal Thymus	thymus
37	chr6:133561600-133565200	Active TSS	Psoas Muscle	Psoas
38	chr6:133561600-133565200	Active TSS	Right Atrium	heart
39	chr6:133561600-133565200	Bivalent/Poised TSS	Osteobl	bone
40	chr6:133561600-133565400	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr6:133561600-133566000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:133561800-133562400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:133561800-133562400	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr6:133561800-133562400	Bivalent Enhancer	NHEK	skin
45	chr6:133561800-133562600	Active TSS	Brain Cingulate Gyrus	brain
46	chr6:133561800-133562600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:133561800-133562600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr6:133561800-133562800	Active TSS	NHLF	lung
49	chr6:133561800-133563000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr6:133561800-133563000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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