Variant report

Variant	rs144041532
Chromosome Location	chr11:45168258-45168259
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	CEBPB	chr11:45168084-45169567	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr11:45167994-45168552	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr11:45168191-45168394	K562	blood:	n/a	n/a
4	POLR2A	chr11:45167733-45169367	HepG2	liver:	n/a	n/a
5	MYC	chr11:45168255-45168304	MCF-7	breast:	n/a	n/a
6	YY1	chr11:45167616-45168266	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:45167589-45168522	HUVEC	blood vessel:	n/a	n/a
8	CHD2	chr11:45167681-45169502	Hela-S3	cervix:	n/a	chr11:45168843-45168853
9	YY1	chr11:45168123-45169079	NT2-D1	testis:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
10	FOS	chr11:45168147-45168942	MCF10A-Er-Src	breast:	n/a	chr11:45168427-45168438 chr11:45168429-45168437 chr11:45168427-45168439 chr11:45168785-45168794 chr11:45168428-45168438
11	NFIC	chr11:45168184-45169214	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr11:45167913-45169132	HepG2	liver:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
13	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr11:45168043-45168290	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:45167788-45169302	K562	blood:	n/a	n/a
16	SIN3AK20	chr11:45168072-45168317	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:45167998-45169184	GM18951	blood:	n/a	n/a
18	POLR2A	chr11:45167976-45169642	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
20	MAX	chr11:45168067-45168525	K562	blood:	n/a	n/a
21	YY1	chr11:45167969-45168963	SK-N-SH	brain:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
22	GTF2F1	chr11:45167724-45168321	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:45168016-45169081	A549	lung:	n/a	n/a
24	YY1	chr11:45167955-45169023	K562	blood:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
25	ELF1	chr11:45167929-45168287	GM12878	blood:	n/a	chr11:45168121-45168133
26	POLR2A	chr11:45168050-45168309	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:45168005-45169567	H1-neurons	neurons:	n/a	n/a
28	FOSL2	chr11:45168123-45169111	SK-N-SH	brain:	n/a	chr11:45168429-45168437 chr11:45168427-45168439 chr11:45168785-45168794 chr11:45168428-45168438
29	TAF1	chr11:45167927-45168273	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr11:45168120-45168270	AG04449	skin:	n/a	n/a
31	HEY1	chr11:45167674-45168413	HepG2	liver:	n/a	chr11:45167764-45167779
32	YY1	chr11:45167955-45168528	GM12892	blood:	n/a	chr11:45168460-45168472
33	TEAD4	chr11:45168223-45168552	K562	blood:	n/a	n/a
34	TAF1	chr11:45167678-45168331	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOSL2	chr11:45168211-45168902	HepG2	liver:	n/a	chr11:45168429-45168437 chr11:45168427-45168439 chr11:45168785-45168794 chr11:45168428-45168438
37	POLR2A	chr11:45168029-45168527	A549	lung:	n/a	n/a
38	MAZ	chr11:45167680-45169243	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:45168039-45168515	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr11:45168189-45169230	HCT-116	colon:	n/a	n/a
41	YY1	chr11:45168027-45168326	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:45167979-45169175	GM15510	blood:	n/a	n/a
43	RUNX3	chr11:45168068-45168366	GM12878	blood:	n/a	n/a
44	TAF1	chr11:45167592-45168344	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:45168019-45169213	MCF-7	breast:	n/a	n/a
46	JUN	chr11:45168131-45169424	K562	blood:	n/a	chr11:45168429-45168437 chr11:45168427-45168439 chr11:45168785-45168794 chr11:45168428-45168438
47	POLR2A	chr11:45167724-45169268	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr11:45167687-45169098	HUVEC	blood vessel:	n/a	n/a
49	JUND	chr11:45168108-45168605	SK-N-SH	brain:	n/a	chr11:45168429-45168437 chr11:45168114-45168122 chr11:45168427-45168439 chr11:45168427-45168438 chr11:45168428-45168438
50	ZNF143	chr11:45168079-45169366	Hela-S3	cervix:	n/a	chr11:45168916-45168926

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	chr11:45168231..45168959-chr2:96810761..96811512,2	Hela-S3	cervix:
4	chr11:45167998..45168767-chr5:56205154..56205766,2	Hela-S3	cervix:
5	chr10:70747303..70749893-chr11:45167896..45169684,2	MCF-7	breast:
6	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
7	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
8	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
9	chr1:228352747..228353404-chr11:45167742..45168503,2	Hela-S3	cervix:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000203684	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000198954	Chromatin interaction
ENSG00000175274	Chromatin interaction
ENSG00000157570	Chromatin interaction
ENSG00000158050	Chromatin interaction
ENSG00000155542	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	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:45167200-45169200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:45167200-45169200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45167200-45169200	Active TSS	Fetal Kidney	kidney
5	chr11:45167200-45169600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:45167200-45169800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:45167200-45170000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:45167400-45169600	Active TSS	Psoas Muscle	Psoas
9	chr11:45167400-45169600	Active TSS	Right Atrium	heart
10	chr11:45167400-45169800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:45167400-45169800	Active TSS	HSMM	muscle
12	chr11:45167400-45170000	Active TSS	A549	lung
13	chr11:45167600-45169000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:45167600-45169000	Active TSS	Fetal Lung	lung
15	chr11:45167600-45169000	Active TSS	Placenta Amnion	Placenta Amnion
16	chr11:45167600-45169000	Active TSS	K562	blood
17	chr11:45167600-45169200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:45167600-45169200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:45167600-45169200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:45167600-45169200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:45167600-45169200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:45167600-45169400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:45167600-45169400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:45167600-45169400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:45167600-45169400	Active TSS	Esophagus	oesophagus
26	chr11:45167600-45169400	Active TSS	Left Ventricle	heart
27	chr11:45167600-45169400	Active TSS	Right Ventricle	heart
28	chr11:45167600-45169400	Active TSS	NHLF	lung
29	chr11:45167600-45169600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:45167600-45169600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:45167600-45169600	Active TSS	Aorta	Aorta
32	chr11:45167600-45169600	Active TSS	Fetal Intestine Large	intestine
33	chr11:45167600-45169600	Active TSS	Ovary	ovary
34	chr11:45167600-45169800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:45167600-45169800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:45167800-45169000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:45167800-45169000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:45167800-45169000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:45167800-45169000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:45167800-45169000	Active TSS	Colonic Mucosa	Colon
41	chr11:45167800-45169000	Weak transcription	Fetal Heart	heart
42	chr11:45167800-45169000	Active TSS	Fetal Muscle Trunk	muscle
43	chr11:45167800-45169000	Active TSS	Placenta	Placenta
44	chr11:45167800-45169000	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:45167800-45169000	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:45167800-45169000	Active TSS	GM12878-XiMat	blood
47	chr11:45167800-45169000	Active TSS	HepG2	liver
48	chr11:45167800-45169000	Active TSS	HSMMtube	muscle
49	chr11:45167800-45169200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:45167800-45169200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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