Variant report

Variant	rs547577845
Chromosome Location	chr11:45202640-45202641
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	MAX	chr11:45202559-45203066	HepG2	liver:	n/a	chr11:45202681-45202691
2	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
3	GATA1	chr11:45202288-45202761	PBDE	blood:	n/a	chr11:45202564-45202573
4	POLR2A	chr11:45201832-45203358	HepG2	liver:	n/a	n/a
5	TBP	chr11:45202503-45202700	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:45202248-45202806	PANC-1	pancreas:	n/a	n/a
7	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
8	POLR2A	chr11:45201901-45202865	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr11:45202417-45202684	MCF10A-Er-Src	breast:	n/a	chr11:45202435-45202445
10	RFX5	chr11:45202380-45202830	Hela-S3	cervix:	n/a	n/a
11	BHLHE40	chr11:45202346-45202654	K562	blood:	n/a	n/a
12	POLR2A	chr11:45201840-45202822	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:45201669-45202950	Hela-S3	cervix:	n/a	n/a
14	JUN	chr11:45202404-45202896	K562	blood:	n/a	chr11:45202563-45202572
15	HA-E2F1	chr11:45201670-45202928	Hela-S3	cervix:	n/a	chr11:45201841-45201851 chr11:45202410-45202419 chr11:45202132-45202141 chr11:45202479-45202489
16	CTCF	chr11:45202560-45202710	RPTEC	kidney:	n/a	n/a
17	TCF7L2	chr11:45201567-45202918	HCT-116	colon:	n/a	n/a
18	ELK1	chr11:45202425-45202768	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:45202372-45202792	Hela-S3	cervix:	n/a	n/a
20	MAX	chr11:45202368-45202871	SK-N-SH	brain:	n/a	chr11:45202435-45202445 chr11:45202681-45202691
21	POLR2A	chr11:45201729-45202799	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:45201655-45202731	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:45201346-45202987	PBDE	blood:	n/a	n/a
24	POLR2A	chr11:45202492-45202679	ProgFib	skin:	n/a	n/a
25	GTF2F1	chr11:45202502-45202763	Hela-S3	cervix:	n/a	n/a
26	ZBTB7A	chr11:45201247-45203155	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
27	POLR2A	chr11:45201611-45202761	ECC-1	luminal epithelium:	n/a	n/a
28	ZBTB7A	chr11:45201489-45203332	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
29	CTCF	chr11:45202640-45202790	WERI-Rb-1	eye:	n/a	n/a
30	POLR2A	chr11:45202466-45202763	HepG2	liver:	n/a	n/a
31	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
32	POLR2A	chr11:45202370-45203153	HepG2	liver:	n/a	n/a
33	MYC	chr11:45202538-45202669	MCF-7	breast:	n/a	n/a
34	SIN3AK20	chr11:45202193-45202646	PANC-1	pancreas:	n/a	n/a
35	E2F6	chr11:45202421-45202774	A549	lung:	n/a	chr11:45202479-45202489
36	MAX	chr11:45202485-45202804	A549	lung:	n/a	chr11:45202681-45202691
37	E2F6	chr11:45202380-45202938	A549	lung:	n/a	chr11:45202410-45202419 chr11:45202479-45202489
38	MYC	chr11:45201608-45202926	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
39	NFIC	chr11:45201448-45202774	ECC-1	luminal epithelium:	n/a	n/a
40	EP300	chr11:45201322-45202864	ECC-1	luminal epithelium:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
41	TCF12	chr11:45201361-45202942	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
42	FOSL2	chr11:45202351-45202753	A549	lung:	n/a	chr11:45202563-45202572
43	SIN3A	chr11:45202379-45202640	H1-hESC	embryonic stem cell:	n/a	n/a
44	TEAD4	chr11:45201456-45202826	ECC-1	luminal epithelium:	n/a	n/a
45	ZNF143	chr11:45201537-45202833	Hela-S3	cervix:	n/a	chr11:45202480-45202490 chr11:45202119-45202137 chr11:45202787-45202797
46	BRCA1	chr11:45202520-45202793	Hela-S3	cervix:	n/a	n/a
47	TCF7L2	chr11:45202401-45202921	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:45201530-45202884	ECC-1	luminal epithelium:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
49	EP300	chr11:45201716-45202861	SK-N-SH	brain:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
50	TAF1	chr11:45202457-45202916	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45202128..45202855-chr20:42839088..42839664,2	Hela-S3	cervix:
3	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
4	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
5	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
6	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
7	chr11:45201839..45203061-chr11:62608513..62609201,3	Hela-S3	cervix:
8	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
9	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
10	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
11	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
12	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
13	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
14	chr1:20834026..20834793-chr11:45201916..45202662,2	Hela-S3	cervix:
15	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000254664	Chromatin interaction
ENSG00000223891	Chromatin interaction
ENSG00000090432	Chromatin interaction
ENSG00000132823	Chromatin interaction
ENSG00000019485	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45201400-45203000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:45201400-45203000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45201400-45203000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:45201400-45203400	Flanking Active TSS	Colonic Mucosa	Colon
5	chr11:45201400-45203400	Enhancers	Fetal Brain Male	brain
6	chr11:45201600-45202800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45201600-45203000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:45201600-45203000	Active TSS	Brain Angular Gyrus	brain
9	chr11:45201600-45203000	Active TSS	HepG2	liver
10	chr11:45201600-45203600	Active TSS	Aorta	Aorta
11	chr11:45201800-45202800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:45201800-45202800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:45201800-45202800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:45201800-45202800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:45201800-45202800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:45201800-45202800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:45201800-45202800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:45201800-45202800	Active TSS	Colon Smooth Muscle	Colon
19	chr11:45201800-45202800	Active TSS	Duodenum Mucosa	Duodenum
20	chr11:45201800-45202800	Active TSS	Fetal Brain Female	brain
21	chr11:45201800-45202800	Active TSS	Fetal Intestine Large	intestine
22	chr11:45201800-45202800	Weak transcription	Fetal Kidney	kidney
23	chr11:45201800-45202800	Active TSS	Fetal Stomach	stomach
24	chr11:45201800-45202800	Active TSS	Left Ventricle	heart
25	chr11:45201800-45202800	Bivalent/Poised TSS	Thymus	Thymus
26	chr11:45201800-45202800	Active TSS	A549	lung
27	chr11:45201800-45202800	Active TSS	Hela-S3	cervix
28	chr11:45201800-45203000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:45201800-45203000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:45201800-45203000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:45201800-45203000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:45201800-45203000	Active TSS	Brain Anterior Caudate	brain
33	chr11:45201800-45203000	Active TSS	HSMM	muscle
34	chr11:45201800-45203200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:45201800-45203200	Active TSS	Psoas Muscle	Psoas
36	chr11:45201800-45203200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:45201800-45203200	Active TSS	Right Atrium	heart
38	chr11:45201800-45204000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:45202000-45202800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:45202000-45202800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:45202000-45202800	Active TSS	Right Ventricle	heart
42	chr11:45202000-45202800	Active TSS	Spleen	Spleen
43	chr11:45202000-45202800	Weak transcription	NHDF-Ad	bronchial
44	chr11:45202000-45203000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:45202000-45203000	Active TSS	Gastric	stomach
46	chr11:45202000-45203000	Active TSS	HSMMtube	muscle
47	chr11:45202000-45204600	Weak transcription	Liver	Liver
48	chr11:45202000-45205400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:45202000-45206600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:45202000-45207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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