Variant report

Variant	rs112089750
Chromosome Location	chr11:66059148-66059149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
2	REST	chr11:66058880-66059195	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:66058781-66059682	H1-neurons	neurons:	n/a	n/a
4	ZBTB7A	chr11:66059066-66059216	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
6	REST	chr11:66059029-66059857	H1-neurons	neurons:	n/a	chr11:66059419-66059432 chr11:66059287-66059300 chr11:66059358-66059371

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66059129-66059179	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:66059129-66059179	PFSK-1	brain:	n/a
3	chr11:66059129-66059179	A549	lung:	n/a
4	chr11:66059129-66059179	BE2_C	brain:	n/a
5	chr11:66059129-66059179	AG04449	skin:	fetal
6	chr11:66059129-66059179	MCF-7	breast:	n/a
7	chr11:66059129-66059179	AG09319	gingival:	n/a
8	chr11:66059129-66059179	HUVEC	blood vessel:	n/a
9	chr11:66059129-66059179	CMK	blood:	n/a
10	chr11:66059129-66059179	RPTEC	kidney:	n/a
11	chr11:66059129-66059179	HNPCEpiC	eye:	n/a
12	chr11:66059129-66059179	MCF10A-Er-Src	breast:	n/a
13	chr11:66059129-66059179	HRE	kidney:	n/a
14	chr11:66059129-66059179	HCM	heart:	n/a
15	chr11:66059129-66059179	SK-N-SH_RA	brain:	n/a
16	chr11:66059129-66059179	SKMC	muscle:	n/a
17	chr11:66059129-66059179	HRCEpiC	kidney:	n/a
18	chr11:66059129-66059179	U87	brain:	n/a
19	chr11:66059129-66059179	SK-N-MC	brain:	n/a
20	chr11:66059129-66059179	Jurkat	blood:	n/a
21	chr11:66059129-66059179	AoSMC	blood vessel:	n/a
22	chr11:66059129-66059179	NHBE	bronchial:	n/a
23	chr11:66059129-66059179	HRPEpiC	eye:	n/a
24	chr11:66059129-66059179	GM12892	blood:	n/a
25	chr11:66059129-66059179	ECC-1	luminal epithelium:	n/a
26	chr11:66059129-66059179	HEEpiC	esophagus:	n/a
27	chr11:66059129-66059179	NH-A	brain:	n/a
28	chr11:66059129-66059179	H1-hESC	embryonic stem cell:	embryo
29	chr11:66059129-66059179	HCPEpiC	choroid plexus:	n/a
30	chr11:66059129-66059179	GM19239	blood:	n/a
31	chr11:66059129-66059179	IMR90	lung:	fetal
32	chr11:66059129-66059179	GM12878	blood:	n/a
33	chr11:66059129-66059179	T-47D	breast:	n/a
34	chr11:66059129-66059179	PANC-1	pancreas:	n/a
35	chr11:66059129-66059179	HL-60	blood:	n/a
36	chr11:66059129-66059179	Hela-S3	cervix:	n/a
37	chr11:66059129-66059179	K562	blood:	n/a
38	chr11:66059129-66059179	HCF	heart:	n/a
39	chr11:66059129-66059179	HepG2	liver:	n/a
40	chr11:66059129-66059179	NB4	blood:	n/a
41	chr11:66059129-66059179	GM06990	blood:	n/a
42	chr11:66059129-66059179	Caco-2	colon:	n/a
43	chr11:66059129-66059179	HMEC	breast:	n/a
44	chr11:66059129-66059179	GM12891	blood:	n/a
45	chr11:66059129-66059179	Hepatocyte	liver:	n/a
46	chr11:66059129-66059179	SK-N-SH	brain:	n/a
47	chr11:66059129-66059179	NT2-D1	testis:	n/a
48	chr11:66059129-66059179	HAEpiC	amniotic membrane:	n/a
49	chr11:66059129-66059179	ovcar-3	ovarian:	n/a
50	chr11:66059129-66059179	AG10803	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
2	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
3	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
4	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
YIF1A	CpG island
TMEM151A	CpG island
ENSG00000254762	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174744	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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	esv32849	chr11:66059034-66060286	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66057800-66059200	Weak transcription	Ovary	ovary
3	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:66058400-66059200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
8	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
10	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta
12	chr11:66058600-66060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
17	chr11:66058800-66059200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:66058800-66059200	Bivalent Enhancer	Liver	Liver
21	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr11:66058800-66059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:66058800-66059400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr11:66058800-66059400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr11:66058800-66059400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:66058800-66059400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr11:66058800-66059600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr11:66058800-66059600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66058800-66059600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr11:66058800-66060000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr11:66058800-66060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:66058800-66060200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:66058800-66060200	Active TSS	Brain Anterior Caudate	brain
34	chr11:66058800-66060200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:66058800-66060200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:66058800-66060400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:66058800-66060400	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:66058800-66060400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:66058800-66060400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr11:66058800-66060600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:66058800-66060600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66059000-66059200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr11:66059000-66059200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr11:66059000-66059200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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