Variant report

Variant	rs147174004
Chromosome Location	chr11:45167448-45167449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr11:45167221-45167949	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:45167117-45167532	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr11:45167005-45167853	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr11:45167137-45169216	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr11:45166837-45169302	H1-hESC	embryonic stem cell:	n/a	chr11:45167119-45167132
9	POLR2A	chr11:45167391-45169173	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr11:45167039-45167909	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:45165151-45169153	MCF10A-Er-Src	breast:	n/a	n/a
12	RCOR1	chr11:45167293-45167814	K562	blood:	n/a	n/a
13	POLR2A	chr11:45166623-45169330	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr11:45167094-45169829	IMR90	lung:	n/a	n/a
15	RCOR1	chr11:45167445-45167641	K562	blood:	n/a	n/a
16	RCOR1	chr11:45167323-45167574	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:45167037-45167557	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr11:45167039-45167525	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:45166912-45169431	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr11:45167309-45167895	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr11:45167131-45167489	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:45166729-45169606	Raji	blood:	n/a	n/a
23	POLR2A	chr11:45167009-45167886	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr11:45167401-45169347	IMR90	lung:	n/a	n/a
25	POLR2A	chr11:45167075-45167492	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:45167059-45168092	K562	blood:	n/a	n/a
27	HCFC1	chr11:45166767-45169670	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr11:45167139-45170103	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	chr11:45167419-45167469	AG09309	skin:	n/a
2	chr11:45167419-45167469	IMR90	lung:	fetal
3	chr11:45167419-45167469	AG04450	lung:	fetal
4	chr11:45167419-45167469	SK-N-MC	brain:	n/a
5	chr11:45167419-45167469	AG10803	skin:	n/a
6	chr11:45167419-45167469	T-47D	breast:	n/a
7	chr11:45167419-45167469	Hepatocyte	liver:	n/a
8	chr11:45167419-45167469	K562	blood:	n/a
9	chr11:45167419-45167469	Hela-S3	cervix:	n/a
10	chr11:45167419-45167469	HCT-116	colon:	n/a
11	chr11:45167419-45167469	Jurkat	blood:	n/a
12	chr11:45167419-45167469	HepG2	liver:	n/a
13	chr11:45167419-45167469	PANC-1	pancreas:	n/a
14	chr11:45167419-45167469	HIPEpiC	eye:	n/a
15	chr11:45167419-45167469	Caco-2	colon:	n/a
16	chr11:45167419-45167469	NB4	blood:	n/a
17	chr11:45167419-45167469	MCF-7	breast:	n/a
18	chr11:45167419-45167469	AG09319	gingival:	n/a
19	chr11:45167419-45167469	PrEC	prostate:	n/a
20	chr11:45167419-45167469	A549	lung:	n/a
21	chr11:45167419-45167469	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:45167419-45167469	SK-N-SH	brain:	n/a
23	chr11:45167419-45167469	HUVEC	blood vessel:	n/a
24	chr11:45167419-45167469	ProgFib	skin:	n/a
25	chr11:45167419-45167469	HMEC	breast:	n/a
26	chr11:45167419-45167469	PFSK-1	brain:	n/a
27	chr11:45167419-45167469	GM19239	blood:	n/a
28	chr11:45167419-45167469	HEEpiC	esophagus:	n/a
29	chr11:45167419-45167469	GM12891	blood:	n/a
30	chr11:45167419-45167469	NHBE	bronchial:	n/a
31	chr11:45167419-45167469	HEK293	kidney:	embryo
32	chr11:45167419-45167469	U87	brain:	n/a
33	chr11:45167419-45167469	ovcar-3	ovarian:	n/a
34	chr11:45167419-45167469	BE2_C	brain:	n/a
35	chr11:45167419-45167469	H1-hESC	embryonic stem cell:	embryo
36	chr11:45167419-45167469	GM12878	blood:	n/a
37	chr11:45167419-45167469	HCF	heart:	n/a
38	chr11:45167419-45167469	NHDF-neo	bronchial:	n/a
39	chr11:45167419-45167469	MCF10A-Er-Src	breast:	n/a
40	chr11:45167419-45167469	SK-N-SH_RA	brain:	n/a
41	chr11:45167419-45167469	HNPCEpiC	eye:	n/a
42	chr11:45167419-45167469	NT2-D1	testis:	n/a
43	chr11:45167419-45167469	GM06990	blood:	n/a
44	chr11:45167419-45167469	ECC-1	luminal epithelium:	n/a
45	chr11:45167419-45167469	BJ	skin:	n/a
46	chr11:45167419-45167469	NH-A	brain:	n/a
47	chr11:45167419-45167469	HRPEpiC	eye:	n/a
48	chr11:45167419-45167469	RPTEC	kidney:	n/a
49	chr11:45167419-45167469	HCPEpiC	choroid plexus:	n/a
50	chr11:45167419-45167469	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:45161924..45164749-chr11:45165739..45167752,2	MCF-7	breast:
2	chr11:44971020..44974752-chr11:45167266..45169322,3	MCF-7	breast:
3	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
4	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
5	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:

No data

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45166800-45167600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:45166800-45167600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:45166800-45167600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
4	chr11:45166800-45167800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr11:45166800-45168200	Enhancers	Spleen	Spleen
6	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:45167000-45167600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:45167000-45167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:45167000-45167600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:45167000-45167600	Enhancers	Ovary	ovary
11	chr11:45167000-45167600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:45167000-45167600	Enhancers	Small Intestine	intestine
13	chr11:45167000-45167800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:45167000-45167800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:45167000-45167800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr11:45167000-45167800	Enhancers	Gastric	stomach
17	chr11:45167000-45168000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:45167000-45168000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:45167200-45167600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr11:45167200-45167600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
23	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr11:45167200-45167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr11:45167200-45167600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr11:45167200-45167600	Flanking Active TSS	Fetal Lung	lung
30	chr11:45167200-45167600	Flanking Bivalent TSS/Enh	Osteobl	bone
31	chr11:45167200-45167800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:45167200-45167800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:45167200-45167800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:45167200-45167800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:45167200-45167800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr11:45167200-45167800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr11:45167200-45167800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:45167200-45167800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr11:45167200-45167800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr11:45167200-45167800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr11:45167200-45167800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:45167200-45167800	Enhancers	Fetal Heart	heart
43	chr11:45167200-45167800	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr11:45167200-45167800	Enhancers	Lung	lung
45	chr11:45167200-45167800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:45167200-45167800	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:45167200-45167800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:45167200-45167800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:45167200-45167800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:45167200-45167800	Flanking Active TSS	HSMMtube	muscle

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