Variant report

Variant	rs192550572
Chromosome Location	chr11:45202095-45202096
allele	A/C
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	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45201832-45203358	HepG2	liver:	n/a	n/a
3	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
4	POLR2A	chr11:45201901-45202865	H1-hESC	embryonic stem cell:	n/a	n/a
5	ESR1	chr11:45201426-45202239	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:45201840-45202822	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:45201669-45202950	Hela-S3	cervix:	n/a	n/a
8	HA-E2F1	chr11:45201670-45202928	Hela-S3	cervix:	n/a	chr11:45201841-45201851 chr11:45202410-45202419 chr11:45202132-45202141 chr11:45202479-45202489
9	TCF7L2	chr11:45201567-45202918	HCT-116	colon:	n/a	n/a
10	CEBPB	chr11:45201782-45202139	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr11:45201310-45202123	Hela-S3	cervix:	n/a	n/a
12	EP300	chr11:45201899-45202319	T-47D	breast:	n/a	n/a
13	USF1	chr11:45202023-45202246	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr11:45201729-45202799	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:45201655-45202731	MCF-7	breast:	n/a	n/a
16	ESR1	chr11:45201572-45202111	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr11:45201346-45202987	PBDE	blood:	n/a	n/a
18	MYC	chr11:45201815-45202177	MCF10A-Er-Src	breast:	n/a	n/a
19	ESR1	chr11:45201508-45202246	ECC-1	luminal epithelium:	n/a	n/a
20	ZBTB7A	chr11:45201247-45203155	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
21	POLR2A	chr11:45201611-45202761	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr11:45200973-45202208	A549	lung:	n/a	n/a
23	ZBTB7A	chr11:45201489-45203332	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
24	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
25	MYC	chr11:45201608-45202926	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
26	NFIC	chr11:45201448-45202774	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr11:45201322-45202864	ECC-1	luminal epithelium:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
28	TCF12	chr11:45201361-45202942	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
29	EP300	chr11:45201874-45202412	T-47D	breast:	n/a	n/a
30	YY1	chr11:45201520-45202350	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr11:45201456-45202826	ECC-1	luminal epithelium:	n/a	n/a
32	ZNF143	chr11:45201537-45202833	Hela-S3	cervix:	n/a	chr11:45202480-45202490 chr11:45202119-45202137 chr11:45202787-45202797
33	USF1	chr11:45201621-45202400	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr11:45201996-45202162	K562	blood:	n/a	n/a
35	MAX	chr11:45201530-45202884	ECC-1	luminal epithelium:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
36	EP300	chr11:45201716-45202861	SK-N-SH	brain:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
37	POLR2A	chr11:45202054-45202114	ProgFib	skin:	n/a	n/a
38	HCFC1	chr11:45200158-45203524	Hela-S3	cervix:	n/a	n/a
39	MAX	chr11:45201635-45202704	H1-hESC	embryonic stem cell:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
40	POLR2A	chr11:45201075-45203095	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:45201711-45202934	A549	lung:	n/a	n/a
42	POLR2A	chr11:45201810-45203261	HepG2	liver:	n/a	n/a
43	NR2F2	chr11:45201445-45202370	MCF-7	breast:	n/a	n/a
44	TCF12	chr11:45201588-45202902	A549	lung:	n/a	chr11:45201861-45201868 chr11:45202040-45202048
45	MAX	chr11:45201651-45203217	HepG2	liver:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
46	MAX	chr11:45201447-45202996	HCT-116	colon:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
47	POLR2A	chr11:45201860-45202501	MCF-7	breast:	n/a	n/a
48	TFAP2C	chr11:45200721-45203126	Hela-S3	cervix:	n/a	chr11:45202162-45202177 chr11:45202607-45202622
49	POLR2A	chr11:45201909-45202890	HUVEC	blood vessel:	n/a	n/a
50	CHD2	chr11:45201551-45203001	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
3	chr1:45805524..45806078-chr11:45202033..45202587,2	Hela-S3	cervix:
4	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
5	chr11:45201626..45202272-chr12:6978913..6979896,2	Hela-S3	cervix:
6	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
7	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
8	chr11:45201839..45203061-chr11:62608513..62609201,3	Hela-S3	cervix:
9	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
10	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
11	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
12	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
13	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
14	chr11:45168123..45168914-chr11:45201466..45202278,2	MCF-7	breast:
15	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
16	chr1:20834026..20834793-chr11:45201916..45202662,2	Hela-S3	cervix:
17	chr11:45201835..45202455-chr17:27620880..27621538,2	Hela-S3	cervix:
18	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000090432	Chromatin interaction
ENSG00000254664	Chromatin interaction
ENSG00000108256	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000111669	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	esv3406728	chr11:45201001-45203549	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3326620	chr11:45201401-45203949	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45201000-45202400	Enhancers	Placenta	Placenta
2	chr11:45201000-45202400	Enhancers	NHLF	lung
3	chr11:45201400-45202400	Active TSS	Brain Germinal Matrix	brain
4	chr11:45201400-45202600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:45201400-45203000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:45201400-45203000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:45201400-45203000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:45201400-45203400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr11:45201400-45203400	Enhancers	Fetal Brain Male	brain
10	chr11:45201600-45202600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:45201600-45202800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:45201600-45203000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:45201600-45203000	Active TSS	Brain Angular Gyrus	brain
14	chr11:45201600-45203000	Active TSS	HepG2	liver
15	chr11:45201600-45203600	Active TSS	Aorta	Aorta
16	chr11:45201800-45202200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:45201800-45202200	Enhancers	Fetal Heart	heart
18	chr11:45201800-45202200	Flanking Active TSS	HMEC	breast
19	chr11:45201800-45202400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:45201800-45202400	Enhancers	NHEK	skin
21	chr11:45201800-45202600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:45201800-45202600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:45201800-45202600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:45201800-45202600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:45201800-45202600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:45201800-45202600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:45201800-45202600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:45201800-45202600	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:45201800-45202600	Active TSS	Brain Hippocampus Middle	brain
30	chr11:45201800-45202600	Active TSS	Brain Substantia Nigra	brain
31	chr11:45201800-45202600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:45201800-45202600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr11:45201800-45202600	Active TSS	Fetal Intestine Small	intestine
34	chr11:45201800-45202600	Enhancers	Fetal Lung	lung
35	chr11:45201800-45202600	Active TSS	Lung	lung
36	chr11:45201800-45202600	Active TSS	Ovary	ovary
37	chr11:45201800-45202600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:45201800-45202600	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:45201800-45202600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:45201800-45202600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:45201800-45202600	Active TSS	Osteobl	bone
42	chr11:45201800-45202800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:45201800-45202800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:45201800-45202800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:45201800-45202800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:45201800-45202800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:45201800-45202800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:45201800-45202800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:45201800-45202800	Active TSS	Colon Smooth Muscle	Colon
50	chr11:45201800-45202800	Active TSS	Duodenum Mucosa	Duodenum

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