Variant report

Variant	rs562136862
Chromosome Location	chr11:45167823-45167824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45167733-45169367	HepG2	liver:	n/a	n/a
2	ZNF143	chr11:45167221-45167949	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr11:45167616-45168266	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:45167589-45168522	HUVEC	blood vessel:	n/a	n/a
5	CHD2	chr11:45167681-45169502	Hela-S3	cervix:	n/a	chr11:45168843-45168853
6	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:45167788-45169302	K562	blood:	n/a	n/a
8	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
9	BRCA1	chr11:45167471-45168136	Hela-S3	cervix:	n/a	n/a
10	GTF2F1	chr11:45167724-45168321	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr11:45167815-45168202	Hela-S3	cervix:	n/a	n/a
12	MAX	chr11:45167635-45167965	K562	blood:	n/a	n/a
13	ARID3A	chr11:45167670-45167842	HepG2	liver:	n/a	n/a
14	HEY1	chr11:45167674-45168413	HepG2	liver:	n/a	chr11:45167764-45167779
15	TAF1	chr11:45167678-45168331	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
17	RFX5	chr11:45167653-45168019	Hela-S3	cervix:	n/a	chr11:45167725-45167733
18	MAZ	chr11:45167680-45169243	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr11:45167005-45167853	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr11:45167592-45168344	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:45167724-45169268	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:45167687-45169098	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr11:45167705-45169463	Hela-S3	cervix:	n/a	n/a
24	TBP	chr11:45167137-45169216	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr11:45167803-45168003	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:45167696-45167947	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:45167617-45168525	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:45167653-45169133	GM12891	blood:	n/a	n/a
29	SIN3A	chr11:45166837-45169302	H1-hESC	embryonic stem cell:	n/a	chr11:45167119-45167132
30	POLR2A	chr11:45167391-45169173	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr11:45167478-45168194	GM12878	blood:	n/a	n/a
32	HEY1	chr11:45167749-45167917	HepG2	liver:	n/a	chr11:45167764-45167779
33	POLR2A	chr11:45167660-45169268	HUVEC	blood vessel:	n/a	n/a
34	SIN3AK20	chr11:45167039-45167909	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr11:45167635-45168184	A549	lung:	n/a	n/a
36	POLR2A	chr11:45165151-45169153	MCF10A-Er-Src	breast:	n/a	n/a
37	ELK1	chr11:45167671-45167999	K562	blood:	n/a	n/a
38	POLR2A	chr11:45166623-45169330	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:45167596-45169112	K562	blood:	n/a	n/a
40	MAZ	chr11:45167094-45169829	IMR90	lung:	n/a	n/a
41	CTCF	chr11:45167720-45167870	HCPEpiC	choroid plexus:	n/a	n/a
42	REST	chr11:45167462-45169716	H1-neurons	neurons:	n/a	chr11:45168921-45168931
43	POLR2A	chr11:45166912-45169431	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr11:45167309-45167895	HepG2	liver:	n/a	n/a
45	HDAC2	chr11:45167600-45167892	HepG2	liver:	n/a	n/a
46	ZBTB7A	chr11:45167455-45168067	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:45166729-45169606	Raji	blood:	n/a	n/a
48	POLR2A	chr11:45167009-45167886	ECC-1	luminal epithelium:	n/a	n/a
49	CHD1	chr11:45167584-45168292	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:45167783-45169198	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45167805-45167855	HRCEpiC	kidney:	n/a
2	chr11:45167805-45167855	ProgFib	skin:	n/a
3	chr11:45167805-45167855	PrEC	prostate:	n/a
4	chr11:45167805-45167855	GM06990	blood:	n/a
5	chr11:45167805-45167855	SAEC	small airway:	n/a
6	chr11:45167805-45167855	MCF10A-Er-Src	breast:	n/a
7	chr11:45167805-45167855	GM12878	blood:	n/a
8	chr11:45167805-45167855	BJ	skin:	n/a
9	chr11:45167805-45167855	AG09319	gingival:	n/a
10	chr11:45167805-45167855	HAEpiC	amniotic membrane:	n/a
11	chr11:45167805-45167855	PANC-1	pancreas:	n/a
12	chr11:45167805-45167855	HCPEpiC	choroid plexus:	n/a
13	chr11:45167805-45167855	HL-60	blood:	n/a
14	chr11:45167805-45167855	GM12892	blood:	n/a
15	chr11:45167805-45167855	IMR90	lung:	fetal
16	chr11:45167805-45167855	HUVEC	blood vessel:	n/a
17	chr11:45167805-45167855	RPTEC	kidney:	n/a
18	chr11:45167805-45167855	NHDF-neo	bronchial:	n/a
19	chr11:45167805-45167855	SK-N-SH	brain:	n/a
20	chr11:45167805-45167855	HCT-116	colon:	n/a
21	chr11:45167805-45167855	Jurkat	blood:	n/a
22	chr11:45167805-45167855	BE2_C	brain:	n/a
23	chr11:45167805-45167855	PFSK-1	brain:	n/a
24	chr11:45167805-45167855	HEK293	kidney:	embryo
25	chr11:45167805-45167855	SK-N-MC	brain:	n/a
26	chr11:45167805-45167855	LNCaP	prostate:	n/a
27	chr11:45167805-45167855	HMEC	breast:	n/a
28	chr11:45167805-45167855	NHBE	bronchial:	n/a
29	chr11:45167805-45167855	HNPCEpiC	eye:	n/a
30	chr11:45167805-45167855	NH-A	brain:	n/a
31	chr11:45167805-45167855	GM19239	blood:	n/a
32	chr11:45167805-45167855	K562	blood:	n/a
33	chr11:45167805-45167855	HepG2	liver:	n/a
34	chr11:45167805-45167855	SKMC	muscle:	n/a
35	chr11:45167805-45167855	AG04450	lung:	fetal
36	chr11:45167805-45167855	Caco-2	colon:	n/a
37	chr11:45167805-45167855	NB4	blood:	n/a
38	chr11:45167805-45167855	ovcar-3	ovarian:	n/a
39	chr11:45167805-45167855	HCF	heart:	n/a
40	chr11:45167805-45167855	AoSMC	blood vessel:	n/a
41	chr11:45167805-45167855	SK-N-SH_RA	brain:	n/a
42	chr11:45167805-45167855	H1-hESC	embryonic stem cell:	embryo
43	chr11:45167805-45167855	U87	brain:	n/a
44	chr11:45167805-45167855	AG04449	skin:	fetal
45	chr11:45167805-45167855	MCF-7	breast:	n/a
46	chr11:45167805-45167855	HRE	kidney:	n/a
47	chr11:45167805-45167855	A549	lung:	n/a
48	chr11:45167805-45167855	AG09309	skin:	n/a
49	chr11:45167805-45167855	AG10803	skin:	n/a
50	chr11:45167805-45167855	HEEpiC	esophagus:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:44971020..44974752-chr11:45167266..45169322,3	MCF-7	breast:
2	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
3	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
4	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
5	chr1:228352747..228353404-chr11:45167742..45168503,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PRDM11	TF binding region
PRDM11	CpG island
ENSG00000203684	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000157570	Chromatin interaction
ENSG00000175274	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3402611	chr11:45166876-45169824	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv825854	chr11:45167393-45169063	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3341652	chr11:45167401-45170149	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv825855	chr11:45167783-45168824	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 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	chr11:45166800-45168200	Enhancers	Spleen	Spleen
2	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:45167000-45168000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:45167000-45168000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:45167200-45168000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:45167200-45168000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:45167200-45168000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr11:45167200-45168000	Flanking Active TSS	Liver	Liver
9	chr11:45167200-45168000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr11:45167200-45168200	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr11:45167200-45169200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:45167200-45169200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:45167200-45169200	Active TSS	Fetal Kidney	kidney
14	chr11:45167200-45169600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:45167200-45169800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:45167200-45170000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:45167400-45168000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr11:45167400-45168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:45167400-45168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:45167400-45168000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr11:45167400-45168000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr11:45167400-45168000	Flanking Active TSS	HMEC	breast
23	chr11:45167400-45168200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:45167400-45169600	Active TSS	Psoas Muscle	Psoas
25	chr11:45167400-45169600	Active TSS	Right Atrium	heart
26	chr11:45167400-45169800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:45167400-45169800	Active TSS	HSMM	muscle
28	chr11:45167400-45170000	Active TSS	A549	lung
29	chr11:45167600-45168000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr11:45167600-45168000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr11:45167600-45168000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:45167600-45168000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:45167600-45168000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:45167600-45168000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:45167600-45168000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:45167600-45168000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:45167600-45168000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:45167600-45168000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:45167600-45168000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:45167600-45168000	Flanking Active TSS	Fetal Brain Male	brain
41	chr11:45167600-45168000	Flanking Active TSS	HUVEC	blood vessel
42	chr11:45167600-45168000	Flanking Active TSS	NHEK	skin
43	chr11:45167600-45168000	Flanking Active TSS	Osteobl	bone
44	chr11:45167600-45168200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:45167600-45168200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:45167600-45169000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:45167600-45169000	Active TSS	Fetal Lung	lung
48	chr11:45167600-45169000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:45167600-45169000	Active TSS	K562	blood
50	chr11:45167600-45169200	Active TSS	HUES48 Cell Line	embryonic stem cell

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