Variant report

Variant	rs569454603
Chromosome Location	chr11:67236127-67236128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:67235249-67237451	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr11:67235459-67237232	ECC-1	luminal epithelium:	n/a	n/a
3	MTA3	chr11:67235106-67237227	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:67236095-67237174	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67235026-67237150	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:67235501-67236222	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:67233795-67237091	K562	blood:	n/a	n/a
8	POLR2A	chr11:67234507-67237181	K562	blood:	n/a	n/a
9	POLR2A	chr11:67235569-67237236	ProgFib	skin:	n/a	n/a
10	MAZ	chr11:67235867-67237252	IMR90	lung:	n/a	chr11:67236871-67236880
11	POLR2A	chr11:67235344-67237176	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:67235820-67237211	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:67236058-67236176	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67235512-67237168	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:67235469-67237283	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:67233884-67237113	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:67236102-67237196	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr11:67235244-67237281	MCF-7	breast:	n/a	n/a
19	SMARCB1	chr11:67235633-67237124	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:67235583-67237238	PBDE	blood:	n/a	n/a
21	POLR2A	chr11:67236122-67237127	GM19193	blood:	n/a	n/a
22	POLR2A	chr11:67233884-67237151	Raji	blood:	n/a	n/a
23	POLR2A	chr11:67234515-67237185	ECC-1	luminal epithelium:	n/a	n/a
24	CREB1	chr11:67236071-67237224	HepG2	liver:	n/a	n/a
25	MAX	chr11:67235426-67237151	MCF-7	breast:	n/a	chr11:67236871-67236880
26	ELF1	chr11:67235981-67237115	GM12878	blood:	n/a	n/a
27	PBX3	chr11:67235976-67237135	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:67235446-67237116	MCF10A-Er-Src	breast:	n/a	n/a
29	RUNX3	chr11:67235731-67236167	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67236065-67237100	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67234959-67236169	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr11:67235197-67237121	GM12891	blood:	n/a	n/a
33	SIN3A	chr11:67236038-67237103	H1-hESC	embryonic stem cell:	n/a	chr11:67236242-67236251
34	POLR2A	chr11:67236052-67236161	A549	lung:	n/a	n/a
35	POLR2A	chr11:67235247-67237155	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr11:67236043-67237288	A549	lung:	n/a	chr11:67236871-67236880
37	TAF1	chr11:67236110-67237074	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3AK20	chr11:67236030-67237123	PANC-1	pancreas:	n/a	n/a
39	PML	chr11:67235615-67237345	GM12878	blood:	n/a	n/a
40	EGR1	chr11:67235355-67237362	HCT-116	colon:	n/a	chr11:67236361-67236374 chr11:67236948-67236961 chr11:67236361-67236371 chr11:67236666-67236676 chr11:67236728-67236742 chr11:67236781-67236795 chr11:67236360-67236375
41	MAX	chr11:67236072-67237040	GM12878	blood:	n/a	chr11:67236871-67236880
42	CHD2	chr11:67235705-67237091	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr11:67235748-67237355	IMR90	lung:	n/a	n/a
44	POLR2A	chr11:67235988-67236199	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr11:67236080-67237247	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:67235259-67237302	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr11:67235628-67237258	U87	brain:	n/a	n/a
48	POLR2A	chr11:67235538-67237331	U87	brain:	n/a	n/a
49	POLR2A	chr11:67234765-67237160	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:67233698-67237165	HCT-116	colon:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
2	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
3	chr11:67232230..67238185-chr11:67272105..67277120,9	K562	blood:
4	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
5	chr11:67069155..67071597-chr11:67234852..67239277,5	MCF-7	breast:
6	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
7	chr11:67222064..67223632-chr11:67234422..67237101,2	K562	blood:
8	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
9	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
10	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
11	chr11:67210748..67211271-chr11:67235396..67236381,2	Hela-S3	cervix:
12	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
13	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
14	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
15	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
16	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
17	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
18	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
19	chr11:67235818..67238402-chr16:4895547..4898294,2	MCF-7	breast:
20	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
21	chr11:66383175..66385697-chr11:67233661..67236166,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM134	TF binding region
ENSG00000172830	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000118900	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000269913	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000140632	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription 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 miRNA target site	146 gene(s)	inside rSNPs	diseases
23	esv3409664	chr11:67235401-67238149	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 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	chr11:67234000-67236600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67234200-67237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:67234400-67236400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:67234800-67236200	Flanking Active TSS	Dnd41	blood
5	chr11:67235000-67236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:67235000-67236200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr11:67235000-67236200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:67235000-67236400	Flanking Active TSS	HMEC	breast
9	chr11:67235200-67236200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:67235200-67236200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:67235200-67236200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:67235200-67236200	Flanking Active TSS	Liver	Liver
13	chr11:67235200-67236200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:67235200-67236200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:67235200-67236200	Flanking Active TSS	Fetal Brain Female	brain
16	chr11:67235200-67236200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:67235200-67236200	Flanking Active TSS	NHEK	skin
18	chr11:67235200-67236400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr11:67235200-67237000	Active TSS	HSMMtube	muscle
20	chr11:67235200-67237200	Active TSS	Gastric	stomach
21	chr11:67235200-67237400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:67235400-67236200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67235400-67236200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:67235400-67236200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:67235400-67236200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:67235400-67236200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:67235400-67236200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:67235400-67236200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:67235400-67236200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:67235400-67236200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:67235400-67236200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:67235400-67236200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:67235400-67236200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr11:67235400-67236200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:67235400-67236200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:67235400-67236200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:67235400-67236200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr11:67235400-67236200	Flanking Active TSS	Stomach Mucosa	stomach
39	chr11:67235400-67236200	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:67235400-67236200	Flanking Active TSS	Hela-S3	cervix
41	chr11:67235400-67236200	Flanking Active TSS	NHLF	lung
42	chr11:67235400-67236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:67235400-67236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:67235400-67236400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:67235400-67236400	Flanking Active TSS	Placenta	Placenta
46	chr11:67235400-67236400	Flanking Active TSS	Thymus	Thymus
47	chr11:67235400-67236600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:67235400-67237200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:67235400-67237200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:67235400-67237200	Active TSS	Pancreatic Islets	Pancreatic Islet

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