Variant report

Variant	rs11231158
Chromosome Location	chr11:62367766-62367767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr11:62367386-62367840	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:62367492-62370094	SK-N-MC	brain:	n/a	n/a
3	GATA1	chr11:62366744-62368510	PBDE	blood:	n/a	chr11:62368255-62368276 chr11:62368262-62368269 chr11:62367106-62367114 chr11:62368260-62368270 chr11:62367399-62367408 chr11:62368262-62368272 chr11:62368257-62368273 chr11:62368260-62368269
4	CHD1	chr11:62365894-62370422	IMR90	lung:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
5	POLR2A	chr11:62367320-62367792	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:62367418-62370077	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:62367188-62370803	K562	blood:	n/a	n/a
8	POLR2A	chr11:62367617-62367773	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:62367478-62367848	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:62366141-62367865	GM12878	blood:	n/a	n/a
11	MXI1	chr11:62366177-62370539	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62367764-62367814	Hepatocyte	liver:	n/a
2	chr11:62367764-62367814	HCPEpiC	choroid plexus:	n/a
3	chr11:62367764-62367814	Jurkat	blood:	n/a
4	chr11:62367764-62367814	GM06990	blood:	n/a
5	chr11:62367764-62367814	RPTEC	kidney:	n/a
6	chr11:62367764-62367814	HEEpiC	esophagus:	n/a
7	chr11:62367764-62367814	ovcar-3	ovarian:	n/a
8	chr11:62367764-62367814	HUVEC	blood vessel:	n/a
9	chr11:62367764-62367814	PrEC	prostate:	n/a
10	chr11:62367764-62367814	NHDF-neo	bronchial:	n/a
11	chr11:62367764-62367814	CMK	blood:	n/a
12	chr11:62367764-62367814	SK-N-MC	brain:	n/a
13	chr11:62367764-62367814	HRE	kidney:	n/a
14	chr11:62367764-62367814	U87	brain:	n/a
15	chr11:62367764-62367814	H1-hESC	embryonic stem cell:	embryo
16	chr11:62367764-62367814	AG04449	skin:	fetal
17	chr11:62367764-62367814	Hela-S3	cervix:	n/a
18	chr11:62367764-62367814	AG10803	skin:	n/a
19	chr11:62367764-62367814	HRCEpiC	kidney:	n/a
20	chr11:62367764-62367814	K562	blood:	n/a
21	chr11:62367764-62367814	AG09319	gingival:	n/a
22	chr11:62367764-62367814	NB4	blood:	n/a
23	chr11:62367764-62367814	AG04450	lung:	fetal
24	chr11:62367764-62367814	SK-N-SH_RA	brain:	n/a
25	chr11:62367764-62367814	PANC-1	pancreas:	n/a
26	chr11:62367764-62367814	GM12891	blood:	n/a
27	chr11:62367764-62367814	ECC-1	luminal epithelium:	n/a
28	chr11:62367764-62367814	LNCaP	prostate:	n/a
29	chr11:62367764-62367814	IMR90	lung:	fetal
30	chr11:62367764-62367814	GM12878	blood:	n/a
31	chr11:62367764-62367814	MCF-7	breast:	n/a
32	chr11:62367764-62367814	GM12892	blood:	n/a
33	chr11:62367764-62367814	AoSMC	blood vessel:	n/a
34	chr11:62367764-62367814	HepG2	liver:	n/a
35	chr11:62367764-62367814	SK-N-SH	brain:	n/a
36	chr11:62367764-62367814	HCT-116	colon:	n/a
37	chr11:62367764-62367814	MCF10A-Er-Src	breast:	n/a
38	chr11:62367764-62367814	SKMC	muscle:	n/a
39	chr11:62367764-62367814	NH-A	brain:	n/a
40	chr11:62367764-62367814	GM19239	blood:	n/a
41	chr11:62367764-62367814	PFSK-1	brain:	n/a
42	chr11:62367764-62367814	BJ	skin:	n/a
43	chr11:62367764-62367814	HMEC	breast:	n/a
44	chr11:62367764-62367814	HAEpiC	amniotic membrane:	n/a
45	chr11:62367764-62367814	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:62367764-62367814	A549	lung:	n/a
47	chr11:62367764-62367814	HCF	heart:	n/a
48	chr11:62367764-62367814	HRPEpiC	eye:	n/a
49	chr11:62367764-62367814	HCM	heart:	n/a
50	chr11:62367764-62367814	HIPEpiC	eye:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62367343..62369766-chr11:62446126..62447935,2	MCF-7	breast:
2	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
3	chr11:62365951..62369565-chr11:62622521..62625872,5	K562	blood:
4	chr11:62366839..62369029-chr11:62472927..62475049,2	MCF-7	breast:
5	chr11:62366079..62370074-chr11:62386678..62390504,7	MCF-7	breast:
6	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
7	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
8	chr11:62367185..62372634-chr11:62607154..62610784,6	MCF-7	breast:
9	chr11:62365870..62369296-chr11:62605447..62609594,6	K562	blood:
10	chr11:62366145..62371000-chr11:62493302..62496531,6	K562	blood:
11	chr11:62366894..62368811-chr11:62572540..62574175,2	MCF-7	breast:
12	chr11:62365873..62371127-chr11:62605447..62611263,11	K562	blood:
13	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
14	chr11:62366089..62368766-chr11:62475317..62477241,2	MCF-7	breast:
15	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
16	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
17	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
18	chr11:62366955..62369844-chr11:62535933..62538904,2	K562	blood:
19	chr11:62367573..62370441-chr11:62435647..62437526,2	K562	blood:
20	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
21	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
22	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
23	chr11:62344267..62349689-chr11:62366431..62369887,5	MCF-7	breast:
24	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
25	chr11:62366910..62368974-chr11:62608295..62610836,2	MCF-7	breast:
26	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
27	chr11:62365885..62368421-chr11:62552476..62555212,3	K562	blood:
28	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
29	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:

No data

Variant related genes	Relation type
MTA2	TF binding region
MTA2	CpG island
ENSG00000162222	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000168000	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11231135	1.00[AFR][1000 genomes]
rs11231139	1.00[MKK][hapmap]
rs12277961	1.00[MKK][hapmap]
rs12281309	1.00[MKK][hapmap]
rs12287162	1.00[MKK][hapmap]
rs12289608	1.00[AFR][1000 genomes]
rs7112976	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers 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	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr11:62359800-62368200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62365000-62368000	Transcr. at gene 5' and 3'	Hela-S3	cervix
3	chr11:62365200-62368200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:62365600-62367800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr11:62366000-62368000	Weak transcription	Gastric	stomach
6	chr11:62366000-62368200	Transcr. at gene 5' and 3'	K562	blood
7	chr11:62366200-62367800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr11:62366200-62367800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr11:62366200-62367800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr11:62366200-62367800	Transcr. at gene 5' and 3'	NH-A	brain
11	chr11:62366200-62367800	Transcr. at gene 5' and 3'	Osteobl	bone
12	chr11:62366200-62368000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
13	chr11:62366200-62368200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr11:62366200-62368200	Transcr. at gene 5' and 3'	A549	lung
15	chr11:62366200-62368200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:62366200-62368400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:62366200-62368400	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr11:62366400-62367800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:62366400-62367800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:62366400-62368000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:62366400-62368000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:62366400-62368000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
23	chr11:62366400-62368200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:62366400-62368200	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr11:62366400-62368400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:62366400-62368800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:62366600-62367800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:62366600-62367800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
29	chr11:62366600-62368000	Enhancers	Spleen	Spleen
30	chr11:62366600-62368400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:62366800-62368000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:62367000-62367800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:62367000-62367800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:62367000-62367800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:62367000-62368000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:62367000-62368000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:62367000-62368000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:62367000-62368200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
39	chr11:62367000-62368200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:62367000-62368200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr11:62367000-62368200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:62367000-62368400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:62367000-62368400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:62367000-62368400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:62367000-62368400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:62367000-62368600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:62367000-62369200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:62367200-62367800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:62367200-62367800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:62367200-62367800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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