Variant report

Variant	rs545260076
Chromosome Location	chr6:34664738-34664739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:122)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34664674-34665291	GM12891	blood:	n/a	n/a
2	IRF1	chr6:34664541-34665189	K562	blood:	n/a	chr6:34664806-34664820 chr6:34664897-34664913
3	CEBPB	chr6:34664601-34665305	A549	lung:	n/a	chr6:34665129-34665140
4	EP300	chr6:34664605-34664908	HepG2	liver:	n/a	n/a
5	MAZ	chr6:34663022-34665275	IMR90	lung:	n/a	n/a
6	FOS	chr6:34664729-34664788	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:34663985-34665203	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr6:34664554-34664974	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr6:34664081-34665053	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr6:34664504-34666032	K562	blood:	n/a	n/a
11	CHD2	chr6:34664068-34664966	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr6:34663844-34665332	HepG2	liver:	n/a	chr6:34664726-34664739
13	RELA	chr6:34664373-34665249	GM15510	blood:	n/a	n/a
14	CREB1	chr6:34664362-34665437	K562	blood:	n/a	chr6:34664726-34664739
15	POLR2A	chr6:34664051-34664897	Hela-S3	cervix:	n/a	n/a
16	SP1	chr6:34664516-34665042	A549	lung:	n/a	chr6:34664807-34664817 chr6:34664800-34664813 chr6:34664806-34664818 chr6:34664843-34664857 chr6:34664807-34664816 chr6:34664806-34664817 chr6:34664806-34664818 chr6:34664848-34664859 chr6:34664803-34664817 chr6:34664808-34664817
17	TAF1	chr6:34664263-34665101	K562	blood:	n/a	n/a
18	CEBPD	chr6:34664242-34664904	HepG2	liver:	n/a	n/a
19	USF1	chr6:34664576-34665029	K562	blood:	n/a	n/a
20	ELK1	chr6:34664634-34665042	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:34664192-34665092	HepG2	liver:	n/a	n/a
22	MAZ	chr6:34663842-34664997	GM12878	blood:	n/a	n/a
23	USF1	chr6:34664603-34664859	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr6:34664100-34666097	K562	blood:	n/a	n/a
25	ELF1	chr6:34664584-34664984	HepG2	liver:	n/a	n/a
26	MYBL2	chr6:34664651-34665308	HepG2	liver:	n/a	n/a
27	USF1	chr6:34664568-34664969	K562	blood:	n/a	n/a
28	POLR2A	chr6:34664283-34665463	K562	blood:	n/a	n/a
29	TAF1	chr6:34664589-34664805	PFSK-1	brain:	n/a	n/a
30	USF1	chr6:34664616-34664813	GM12878	blood:	n/a	n/a
31	SP4	chr6:34664584-34664812	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr6:34664368-34665137	MCF-7	breast:	n/a	chr6:34664807-34664816
33	ELF1	chr6:34663848-34665068	GM12878	blood:	n/a	n/a
34	CREB1	chr6:34664102-34665381	HepG2	liver:	n/a	chr6:34664726-34664739
35	PAX5	chr6:34664583-34665128	GM12878	blood:	n/a	n/a
36	USF1	chr6:34664650-34664876	A549	lung:	n/a	n/a
37	USF1	chr6:34664447-34665041	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr6:34664581-34664987	H1-neurons	neurons:	n/a	n/a
39	USF2	chr6:34664612-34665141	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:34664018-34665108	MCF-7	breast:	n/a	n/a
41	SP4	chr6:34664564-34664914	H1-hESC	embryonic stem cell:	n/a	chr6:34664806-34664817 chr6:34664848-34664859 chr6:34664802-34664818
42	CEBPB	chr6:34664611-34664824	HepG2	liver:	n/a	n/a
43	USF1	chr6:34664561-34665040	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr6:34664345-34666027	K562	blood:	n/a	n/a
45	CREB1	chr6:34664423-34665222	A549	lung:	n/a	chr6:34664726-34664739
46	E2F4	chr6:34664596-34664853	MCF10A-Er-Src	breast:	n/a	chr6:34664807-34664819 chr6:34664807-34664816
47	ELF1	chr6:34664587-34665068	SK-N-SH	brain:	n/a	n/a
48	ZNF143	chr6:34664700-34665302	K562	blood:	n/a	n/a
49	MAX	chr6:34664556-34664988	K562	blood:	n/a	n/a
50	NRF1	chr6:34664481-34664856	H1-hESC	embryonic stem cell:	n/a	chr6:34664653-34664664 chr6:34664807-34664816

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34664703-34664753	HUVEC	blood vessel:	n/a
2	chr6:34664699-34664749	HCPEpiC	choroid plexus:	n/a
3	chr6:34664699-34664749	ProgFib	skin:	n/a
4	chr6:34664703-34664753	AG04449	skin:	fetal
5	chr6:34664703-34664753	HNPCEpiC	eye:	n/a
6	chr6:34664699-34664749	A549	lung:	n/a
7	chr6:34664703-34664753	GM12891	blood:	n/a
8	chr6:34664699-34664749	HIPEpiC	eye:	n/a
9	chr6:34664703-34664753	ProgFib	skin:	n/a
10	chr6:34664703-34664753	Jurkat	blood:	n/a
11	chr6:34664703-34664753	BJ	skin:	n/a
12	chr6:34664699-34664749	GM06990	blood:	n/a
13	chr6:34664703-34664753	HRE	kidney:	n/a
14	chr6:34664699-34664749	AG09319	gingival:	n/a
15	chr6:34664699-34664749	Caco-2	colon:	n/a
16	chr6:34664699-34664749	AG09309	skin:	n/a
17	chr6:34664703-34664753	ovcar-3	ovarian:	n/a
18	chr6:34664699-34664749	RPTEC	kidney:	n/a
19	chr6:34664699-34664749	HNPCEpiC	eye:	n/a
20	chr6:34664703-34664753	ECC-1	luminal epithelium:	n/a
21	chr6:34664703-34664753	HIPEpiC	eye:	n/a
22	chr6:34664699-34664749	HRE	kidney:	n/a
23	chr6:34664699-34664749	CMK	blood:	n/a
24	chr6:34664703-34664753	HRPEpiC	eye:	n/a
25	chr6:34664699-34664749	AG04449	skin:	fetal
26	chr6:34664699-34664749	U87	brain:	n/a
27	chr6:34664699-34664749	HCF	heart:	n/a
28	chr6:34664703-34664753	PANC-1	pancreas:	n/a
29	chr6:34664703-34664753	NT2-D1	testis:	n/a
30	chr6:34664699-34664749	GM12892	blood:	n/a
31	chr6:34664699-34664749	SKMC	muscle:	n/a
32	chr6:34664703-34664753	RPTEC	kidney:	n/a
33	chr6:34664703-34664753	MCF10A-Er-Src	breast:	n/a
34	chr6:34664699-34664749	HCM	heart:	n/a
35	chr6:34664703-34664753	AG09309	skin:	n/a
36	chr6:34664703-34664753	LNCaP	prostate:	n/a
37	chr6:34664703-34664753	PrEC	prostate:	n/a
38	chr6:34664703-34664753	GM06990	blood:	n/a
39	chr6:34664703-34664753	CMK	blood:	n/a
40	chr6:34664699-34664749	AG10803	skin:	n/a
41	chr6:34664699-34664749	PFSK-1	brain:	n/a
42	chr6:34664703-34664753	GM19239	blood:	n/a
43	chr6:34664703-34664753	K562	blood:	n/a
44	chr6:34664699-34664749	SK-N-MC	brain:	n/a
45	chr6:34664703-34664753	Caco-2	colon:	n/a
46	chr6:34664699-34664749	HRPEpiC	eye:	n/a
47	chr6:34664703-34664753	HCPEpiC	choroid plexus:	n/a
48	chr6:34664699-34664749	HCT-116	colon:	n/a
49	chr6:34664703-34664753	U87	brain:	n/a
50	chr6:34664699-34664749	GM12878	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34663247..34666234-chr6:34723415..34727175,3	K562	blood:
2	chr6:34663461..34666396-chr6:34758437..34761219,3	K562	blood:
3	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
4	chr6:34660360..34662631-chr6:34662736..34665398,3	K562	blood:
5	chr11:65624341..65625267-chr6:34664302..34664857,2	Hela-S3	cervix:
6	chr6:34664734..34666755-chr6:34668036..34669637,2	K562	blood:
7	chr6:34433144..34435297-chr6:34663197..34665594,2	MCF-7	breast:
8	chr6:34662895..34664989-chr6:34725317..34726977,2	MCF-7	breast:
9	chr6:34659775..34661894-chr6:34663558..34666240,3	K562	blood:
10	chr6:34653279..34655876-chr6:34663256..34664778,2	MCF-7	breast:
11	chr6:34663247..34666328-chr6:34722695..34726583,8	K562	blood:
12	chr6:34657528..34660560-chr6:34662754..34664755,3	MCF-7	breast:
13	chr6:34664585..34666258-chr6:34723626..34725241,2	MCF-7	breast:
14	chr6:34392408..34394621-chr6:34663502..34666102,2	K562	blood:
15	chr6:34649586..34652220-chr6:34663564..34665833,2	MCF-7	breast:
16	chr6:34584121..34585997-chr6:34662703..34665284,2	K562	blood:
17	chr6:34662945..34666396-chr6:34758284..34762755,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRPC-2	chr6:34664723-34664774	NONHSAT112145
2	lnc-SNRPC-2	chr6:34664722-34664774	ENSG00000272288.1

No data

Variant related genes	Relation type
C6orf106	TF binding region
C6orf106	CpG island
ENSG00000065060	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000239059	Chromatin interaction
ENSG00000220643	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000265123	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000216636	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000124614	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3341496	chr6:34663774-34665822	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:34659800-34665600	Active TSS	GM12878-XiMat	blood
2	chr6:34662200-34665400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:34662600-34665400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34662800-34665200	Active TSS	Aorta	Aorta
5	chr6:34662800-34665200	Active TSS	Esophagus	oesophagus
6	chr6:34662800-34665200	Active TSS	Fetal Muscle Trunk	muscle
7	chr6:34662800-34665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:34662800-34665400	Active TSS	HSMMtube	muscle
9	chr6:34662800-34665600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:34663000-34665000	Active TSS	NHLF	lung
11	chr6:34663000-34665200	Active TSS	Lung	lung
12	chr6:34663000-34665200	Active TSS	Pancreas	Pancrea
13	chr6:34663000-34665200	Active TSS	Stomach Mucosa	stomach
14	chr6:34663000-34665400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:34663200-34665200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:34663200-34665200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:34663200-34665200	Active TSS	Gastric	stomach
18	chr6:34663200-34665200	Active TSS	Left Ventricle	heart
19	chr6:34663200-34665400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:34663200-34665400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:34663200-34665400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:34663200-34665400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:34663200-34665400	Active TSS	Colon Smooth Muscle	Colon
24	chr6:34663200-34665400	Active TSS	Fetal Intestine Large	intestine
25	chr6:34663200-34665400	Active TSS	Ovary	ovary
26	chr6:34663200-34665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:34663400-34665000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:34663400-34665000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:34663400-34665000	Active TSS	Fetal Heart	heart
30	chr6:34663400-34665200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:34663400-34665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:34663400-34665200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:34663400-34665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:34663400-34665400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:34663400-34665400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:34663400-34665400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:34663400-34665400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:34663400-34665400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:34663400-34665400	Active TSS	HSMM	muscle
40	chr6:34663400-34665400	Active TSS	NHDF-Ad	bronchial
41	chr6:34663400-34665400	Active TSS	NHEK	skin
42	chr6:34663400-34665800	Active TSS	A549	lung
43	chr6:34663600-34665000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:34663600-34665000	Active TSS	HMEC	breast
45	chr6:34663600-34665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:34663600-34665200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:34663600-34665200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr6:34663600-34665200	Active TSS	Small Intestine	intestine
49	chr6:34663600-34665400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:34663600-34665400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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