Variant report

Variant	rs11546741
Chromosome Location	chr6:30691700-30691701
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:183)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30690292-30692066	K562	blood:	n/a	n/a
2	POLR2A	chr6:30691165-30692227	ProgFib	skin:	n/a	n/a
3	POLR2A	chr6:30691045-30692260	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:30687742-30694690	GM12878	blood:	n/a	n/a
5	MTA3	chr6:30691351-30692077	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30691541-30692065	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:30690060-30695157	GM12892	blood:	n/a	n/a
8	SIX5	chr6:30691226-30692031	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr6:30691648-30691965	K562	blood:	n/a	chr6:30691915-30691935
10	POLR2A	chr6:30687036-30695449	HUVEC	blood vessel:	n/a	n/a
11	REST	chr6:30691259-30692331	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr6:30690176-30694491	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:30687122-30694167	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:30683610-30695318	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr6:30691230-30694189	K562	blood:	n/a	n/a
16	POLR2A	chr6:30690156-30694752	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr6:30690112-30695297	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:30686736-30693839	K562	blood:	n/a	n/a
19	POLR2A	chr6:30687488-30695337	Hela-S3	cervix:	n/a	n/a
20	SP1	chr6:30691119-30693317	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:30691491-30691816	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:30690239-30691890	GM12878	blood:	n/a	n/a
23	CTCF	chr6:30691580-30691730	HBMEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:30687419-30696083	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr6:30691006-30692261	A549	lung:	n/a	n/a
26	POLR2A	chr6:30691444-30692161	A549	lung:	n/a	n/a
27	POLR2A	chr6:30687384-30694779	K562	blood:	n/a	n/a
28	EP300	chr6:30691139-30692400	T-47D	breast:	n/a	n/a
29	POLR2A	chr6:30687265-30694784	K562	blood:	n/a	n/a
30	STAT5A	chr6:30691357-30691799	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:30690124-30695305	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr6:30691291-30691785	HCT-116	colon:	n/a	n/a
33	POLR2A	chr6:30690069-30695502	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:30690223-30696218	A549	lung:	n/a	n/a
35	POLR2A	chr6:30687113-30694561	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:30687285-30695231	K562	blood:	n/a	n/a
37	POLR2A	chr6:30691445-30691831	A549	lung:	n/a	n/a
38	TEAD4	chr6:30691258-30692058	K562	blood:	n/a	n/a
39	POLR2A	chr6:30691029-30692337	ECC-1	luminal epithelium:	n/a	n/a
40	HEY1	chr6:30686545-30693356	K562	blood:	n/a	chr6:30689309-30689324 chr6:30689249-30689264 chr6:30689435-30689450 chr6:30689347-30689362
41	POLR2A	chr6:30691040-30692299	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:30686133-30696545	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr6:30690110-30694856	GM12891	blood:	n/a	n/a
44	POLR2A	chr6:30687521-30692147	U87	brain:	n/a	n/a
45	POLR2A	chr6:30687089-30694778	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:30691065-30692260	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:30686246-30695327	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:30691047-30692260	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:30687472-30692064	U87	brain:	n/a	n/a
50	POLR2A	chr6:30687011-30692135	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30691699-30691749	GM12892	blood:	n/a
2	chr6:30691683-30691733	AG04450	lung:	fetal
3	chr6:30691683-30691733	AG10803	skin:	n/a
4	chr6:30691665-30691715	HAEpiC	amniotic membrane:	n/a
5	chr6:30691665-30691715	GM12892	blood:	n/a
6	chr6:30691699-30691749	SK-N-SH_RA	brain:	n/a
7	chr6:30691665-30691715	GM06990	blood:	n/a
8	chr6:30691665-30691715	HCPEpiC	choroid plexus:	n/a
9	chr6:30691683-30691733	PFSK-1	brain:	n/a
10	chr6:30691683-30691733	GM12878	blood:	n/a
11	chr6:30691699-30691749	NH-A	brain:	n/a
12	chr6:30691683-30691733	HUVEC	blood vessel:	n/a
13	chr6:30691683-30691733	HCF	heart:	n/a
14	chr6:30691699-30691749	HEK293	kidney:	embryo
15	chr6:30691665-30691715	U87	brain:	n/a
16	chr6:30691665-30691715	HUVEC	blood vessel:	n/a
17	chr6:30691683-30691733	GM12891	blood:	n/a
18	chr6:30691665-30691715	A549	lung:	n/a
19	chr6:30691683-30691733	HRCEpiC	kidney:	n/a
20	chr6:30691699-30691749	Hepatocyte	liver:	n/a
21	chr6:30691665-30691715	Hepatocyte	liver:	n/a
22	chr6:30691665-30691715	SK-N-MC	brain:	n/a
23	chr6:30691665-30691715	NH-A	brain:	n/a
24	chr6:30691683-30691733	MCF10A-Er-Src	breast:	n/a
25	chr6:30691665-30691715	ovcar-3	ovarian:	n/a
26	chr6:30691665-30691715	HCT-116	colon:	n/a
27	chr6:30691683-30691733	HIPEpiC	eye:	n/a
28	chr6:30691683-30691733	H1-hESC	embryonic stem cell:	embryo
29	chr6:30691665-30691715	SAEC	small airway:	n/a
30	chr6:30691665-30691715	MCF10A-Er-Src	breast:	n/a
31	chr6:30691699-30691749	SKMC	muscle:	n/a
32	chr6:30691665-30691715	MCF-7	breast:	n/a
33	chr6:30691699-30691749	HAEpiC	amniotic membrane:	n/a
34	chr6:30691699-30691749	HRCEpiC	kidney:	n/a
35	chr6:30691683-30691733	BE2_C	brain:	n/a
36	chr6:30691665-30691715	CMK	blood:	n/a
37	chr6:30691683-30691733	AG09309	skin:	n/a
38	chr6:30691699-30691749	IMR90	lung:	fetal
39	chr6:30691683-30691733	SKMC	muscle:	n/a
40	chr6:30691665-30691715	SKMC	muscle:	n/a
41	chr6:30691665-30691715	SK-N-SH_RA	brain:	n/a
42	chr6:30691699-30691749	AG10803	skin:	n/a
43	chr6:30691665-30691715	NHBE	bronchial:	n/a
44	chr6:30691699-30691749	U87	brain:	n/a
45	chr6:30691699-30691749	HNPCEpiC	eye:	n/a
46	chr6:30691665-30691715	T-47D	breast:	n/a
47	chr6:30691665-30691715	Jurkat	blood:	n/a
48	chr6:30691699-30691749	HepG2	liver:	n/a
49	chr6:30691683-30691733	RPTEC	kidney:	n/a
50	chr6:30691699-30691749	AG09319	gingival:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30689083..30692064-chr6:30851539..30853940,2	K562	blood:
2	chr6:30522151..30525852-chr6:30686505..30691954,11	K562	blood:
3	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
4	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
5	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
6	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
7	chr13:41956378..41959414-chr6:30690779..30694701,5	K562	blood:
8	chr6:30455790..30458568-chr6:30687436..30691942,4	MCF-7	breast:
9	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
10	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272540	TF binding region
ENSG00000272540	CpG island
ENSG00000204560	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000214222	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000230449	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv970104	chr6:30690935-30693035	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 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	chr6:30688200-30692400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:30688400-30691800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:30688800-30693200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:30689000-30691800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr6:30689400-30692000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:30689400-30692000	Transcr. at gene 5' and 3'	HMEC	breast
7	chr6:30689400-30692400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
8	chr6:30689400-30692400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:30689400-30692400	Transcr. at gene 5' and 3'	NHLF	lung
10	chr6:30689400-30693000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:30689400-30693000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:30689400-30694000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:30689400-30694000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:30689600-30692200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr6:30690000-30693000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:30690000-30694000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
17	chr6:30690000-30709600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:30690200-30692000	Transcr. at gene 5' and 3'	Hela-S3	cervix
19	chr6:30690200-30693000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:30690200-30693400	Transcr. at gene 5' and 3'	NH-A	brain
21	chr6:30690200-30694000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr6:30690200-30699200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:30690400-30692000	Genic enhancers	Pancreas	Pancrea
24	chr6:30690400-30692000	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr6:30690400-30692000	Transcr. at gene 5' and 3'	NHEK	skin
26	chr6:30690400-30693000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:30690400-30693200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
28	chr6:30690400-30696400	Strong transcription	Gastric	stomach
29	chr6:30690400-30709200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:30690600-30691800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:30690600-30691800	Genic enhancers	Esophagus	oesophagus
32	chr6:30690600-30692000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:30690600-30692000	Genic enhancers	Colonic Mucosa	Colon
34	chr6:30690600-30692000	Genic enhancers	Placenta Amnion	Placenta Amnion
35	chr6:30690600-30692200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr6:30690600-30692400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:30690600-30692600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:30690600-30692600	Genic enhancers	Colon Smooth Muscle	Colon
39	chr6:30690600-30692800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:30690600-30693000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:30690600-30693000	Genic enhancers	Liver	Liver
42	chr6:30690600-30693200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:30690600-30693400	Genic enhancers	Fetal Stomach	stomach
44	chr6:30690600-30693600	Weak transcription	Right Atrium	heart
45	chr6:30690600-30693800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:30690600-30694000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:30690600-30694000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:30690600-30694000	Genic enhancers	Adipose Nuclei	Adipose
49	chr6:30690600-30694000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:30690600-30694200	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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