Variant report

Variant	rs142703558
Chromosome Location	chr11:63581938-63581939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:63580337-63582275	H1-neurons	neurons:	n/a	chr11:63581580-63581593 chr11:63581442-63581455 chr11:63581574-63581587 chr11:63581319-63581332
2	YY1	chr11:63581804-63582083	GM12878	blood:	n/a	chr11:63582029-63582037 chr11:63581967-63581978
3	POLR2A	chr11:63581828-63582049	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr11:63581770-63581970	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr11:63580253-63581942	K562	blood:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
6	TBP	chr11:63580577-63582115	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:63580310-63582417	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:63580574-63582320	GM12878	blood:	n/a	n/a
9	RAD21	chr11:63581591-63581977	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBL1XR1	chr11:63581461-63582068	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:63580410-63582089	K562	blood:	n/a	n/a
12	MAX	chr11:63581787-63582026	K562	blood:	n/a	n/a
13	MAX	chr11:63580316-63582099	ECC-1	luminal epithelium:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
14	POU2F2	chr11:63581827-63582256	GM12891	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
15	POLR2A	chr11:63580552-63582008	GM18526	blood:	n/a	n/a
16	MAZ	chr11:63580254-63582692	IMR90	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
17	POLR2A	chr11:63581816-63582044	GM12878	blood:	n/a	n/a
18	CHD1	chr11:63581653-63582154	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:63580448-63582106	Raji	blood:	n/a	n/a
20	STAT5A	chr11:63581577-63582011	GM12878	blood:	n/a	chr11:63581930-63581942 chr11:63581777-63581789 chr11:63581647-63581659 chr11:63581965-63581977
21	POLR2A	chr11:63580529-63582084	GM18505	blood:	n/a	n/a
22	POLR2A	chr11:63581783-63582024	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr11:63581464-63582203	GM12878	blood:	n/a	n/a
24	POU2F2	chr11:63581777-63582231	GM12878	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
25	RELA	chr11:63580436-63582154	GM12891	blood:	n/a	chr11:63580664-63580673 chr11:63580664-63580673
26	POLR2A	chr11:63580510-63581971	GM19193	blood:	n/a	n/a
27	ZNF143	chr11:63581919-63582016	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr11:63580407-63582035	Hela-S3	cervix:	n/a	chr11:63580938-63580948 chr11:63581081-63581091
29	POLR2A	chr11:63581920-63582090	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:63581454-63582032	H1-neurons	neurons:	n/a	n/a
31	PML	chr11:63580594-63582222	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:63581401-63582142	GM12878	blood:	n/a	n/a
33	RCOR1	chr11:63581399-63582101	K562	blood:	n/a	n/a
34	POLR2A	chr11:63581614-63581952	HepG2	liver:	n/a	n/a
35	SMC3	chr11:63581121-63582012	Hela-S3	cervix:	n/a	chr11:63581427-63581437 chr11:63581588-63581602
36	POLR2A	chr11:63580432-63581942	K562	blood:	n/a	n/a
37	POLR2A	chr11:63580266-63582046	PFSK-1	brain:	n/a	n/a
38	RCOR1	chr11:63581797-63582005	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:63581723-63581991	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:63580582-63582312	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr11:63581797-63582147	GM12878	blood:	n/a	chr11:63582029-63582037 chr11:63581967-63581978
42	MAZ	chr11:63581259-63582156	GM12878	blood:	n/a	chr11:63581504-63581514
43	POLR2A	chr11:63580375-63581972	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:63580552-63582096	GM12892	blood:	n/a	n/a
45	MXI1	chr11:63579850-63582705	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr11:63581734-63582759	GM12878	blood:	n/a	n/a
47	POU2F2	chr11:63581816-63582217	GM12878	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
48	NRF1	chr11:63581938-63581945	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:63581248-63582124	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr11:63580538-63582415	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
3	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
4	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
5	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
6	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
7	chr11:63580161..63582030-chr11:63668287..63670430,2	MCF-7	breast:
8	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
9	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
10	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
11	chr11:63581485..63582340-chr5:43483433..43484029,2	Hela-S3	cervix:
12	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:
13	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
14	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
15	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
16	chr11:63535403..63536236-chr11:63580885..63581952,3	MCF-7	breast:
17	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
18	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
19	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
20	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
21	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000255651	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv33730	chr11:63581200-63586085	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 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	chr11:63579400-63582200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63579800-63582600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:63580000-63582000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:63580000-63582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:63580000-63582000	Active TSS	Fetal Kidney	kidney
6	chr11:63580000-63582000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:63580000-63582200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:63580200-63582000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:63580200-63582200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:63580200-63582200	Active TSS	HepG2	liver
11	chr11:63580200-63582600	Active TSS	Right Atrium	heart
12	chr11:63580400-63582000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:63580400-63582000	Active TSS	Fetal Heart	heart
14	chr11:63580400-63582000	Active TSS	Gastric	stomach
15	chr11:63580400-63582200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:63580400-63582200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:63580400-63582200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:63580400-63582200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:63580400-63582200	Active TSS	Lung	lung
20	chr11:63580400-63582200	Active TSS	A549	lung
21	chr11:63580400-63582200	Active TSS	NHDF-Ad	bronchial
22	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:63580600-63582000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:63580600-63582000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:63580600-63582000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:63580600-63582000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:63580600-63582000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:63580600-63582000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:63580600-63582000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:63580600-63582000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:63580600-63582000	Active TSS	Colon Smooth Muscle	Colon
33	chr11:63580600-63582000	Active TSS	Fetal Intestine Large	intestine
34	chr11:63580600-63582000	Active TSS	Fetal Stomach	stomach
35	chr11:63580600-63582000	Active TSS	Ovary	ovary
36	chr11:63580600-63582000	Active TSS	Hela-S3	cervix
37	chr11:63580600-63582000	Active TSS	HMEC	breast
38	chr11:63580600-63582000	Active TSS	NHLF	lung
39	chr11:63580600-63582000	Active TSS	Osteobl	bone
40	chr11:63580600-63582200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr11:63580600-63582200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:63580600-63582200	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:63580600-63582200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr11:63580600-63582200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:63580600-63582200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:63580600-63582200	Active TSS	HSMM	muscle
47	chr11:63580600-63582400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:63580600-63582400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:63580600-63582400	Active TSS	GM12878-XiMat	blood
50	chr11:63580600-63582600	Active TSS	HSMMtube	muscle

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