Variant report

Variant	rs563885492
Chromosome Location	chr11:47207275-47207276
allele	C/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	POLR2A	chr11:47204907-47209088	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:47206994-47208479	MCF10A-Er-Src	breast:	n/a	n/a
3	SIN3AK20	chr11:47206948-47208390	PANC-1	pancreas:	n/a	n/a
4	MAX	chr11:47207101-47207631	HepG2	liver:	n/a	chr11:47207105-47207115 chr11:47207475-47207485
5	POLR2A	chr11:47206807-47207594	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:47207027-47208413	HUVEC	blood vessel:	n/a	n/a
7	E2F6	chr11:47207204-47207337	K562	blood:	n/a	n/a
8	MAZ	chr11:47206739-47208699	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
9	ZBTB7A	chr11:47206828-47207374	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
11	MAX	chr11:47207232-47207414	K562	blood:	n/a	n/a
12	MYC	chr11:47206835-47208235	MCF10A-Er-Src	breast:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
13	ZKSCAN1	chr11:47206928-47207491	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:47206986-47207990	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOS	chr11:47206794-47207369	MCF10A-Er-Src	breast:	n/a	chr11:47206924-47206935 chr11:47206925-47206933
16	POLR2A	chr11:47206995-47208166	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
18	YY1	chr11:47205999-47208165	HepG2	liver:	n/a	chr11:47208079-47208090 chr11:47207478-47207492 chr11:47207856-47207870 chr11:47207861-47207870 chr11:47207011-47207022 chr11:47207117-47207131
19	POLR2A	chr11:47206932-47207571	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr11:47206933-47207658	MCF-7	breast:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485
21	MYBL2	chr11:47206092-47207498	HepG2	liver:	n/a	n/a
22	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr11:47206881-47207828	A549	lung:	n/a	n/a
24	EP300	chr11:47206997-47207488	T-47D	breast:	n/a	n/a
25	POLR2A	chr11:47207023-47208266	MCF-7	breast:	n/a	n/a
26	MAX	chr11:47205478-47209283	HepG2	liver:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
27	SMC3	chr11:47206759-47208652	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr11:47206359-47207815	HepG2	liver:	n/a	chr11:47207010-47207020 chr11:47207603-47207613
29	TAF1	chr11:47206864-47207440	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr11:47207114-47207338	HepG2	liver:	n/a	n/a
31	MAX	chr11:47206944-47208373	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
32	POLR2A	chr11:47206762-47209024	Hela-S3	cervix:	n/a	n/a
33	TBP	chr11:47206223-47207586	HepG2	liver:	n/a	n/a
34	GABPA	chr11:47206741-47207421	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPD	chr11:47206286-47207614	HepG2	liver:	n/a	n/a
36	MYC	chr11:47207019-47207324	HepG2	liver:	n/a	chr11:47207105-47207115
37	TFAP2A	chr11:47206434-47207951	Hela-S3	cervix:	n/a	chr11:47207857-47207868 chr11:47207514-47207525 chr11:47207591-47207603 chr11:47207516-47207524 chr11:47207515-47207530 chr11:47207775-47207786 chr11:47207516-47207524 chr11:47207516-47207524
38	POLR2A	chr11:47206412-47207411	HepG2	liver:	n/a	n/a
39	TAF1	chr11:47206979-47208305	HepG2	liver:	n/a	n/a
40	CBX3	chr11:47207184-47207527	K562	blood:	n/a	n/a
41	BRCA1	chr11:47207077-47207379	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
43	TAF7	chr11:47206874-47207438	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:47207040-47207384	H1-hESC	embryonic stem cell:	n/a	chr11:47207105-47207115
45	HNF4G	chr11:47206818-47207314	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:47207109-47208325	A549	lung:	n/a	n/a
47	E2F4	chr11:47206806-47207293	MCF10A-Er-Src	breast:	n/a	n/a
48	TCF12	chr11:47206863-47208050	ECC-1	luminal epithelium:	n/a	n/a
49	SP1	chr11:47206797-47207395	H1-hESC	embryonic stem cell:	n/a	chr11:47207016-47207025 chr11:47207137-47207151 chr11:47207010-47207022 chr11:47207110-47207122 chr11:47207015-47207027 chr11:47207012-47207026 chr11:47207111-47207120 chr11:47207110-47207121 chr11:47207011-47207020 chr11:47207015-47207027 chr11:47207168-47207175 chr11:47207007-47207021 chr11:47207107-47207121
50	MAX	chr11:47206922-47208468	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784

No.	Distal block	Cell Line	Cell type
1	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
2	chr11:47205835..47208468-chr11:47280225..47282817,2	MCF-7	breast:
3	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
4	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
5	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
6	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
7	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:
8	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
9	chr11:47206987..47207900-chr17:56736234..56736875,2	Hela-S3	cervix:
10	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
11	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
12	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
13	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
14	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
15	chr11:47207092..47208885-chr11:47420633..47423542,2	K562	blood:
16	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
17	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
18	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
19	chr11:47206949..47207677-chr19:17326146..17326928,2	Hela-S3	cervix:
20	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000266540	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv3375306	chr11:47206601-47209149	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr11:47197000-47207600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:47205600-47207400	Flanking Active TSS	Liver	Liver
3	chr11:47205600-47208200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:47205600-47208200	Active TSS	Left Ventricle	heart
5	chr11:47205800-47208200	Active TSS	Right Ventricle	heart
6	chr11:47206000-47207400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:47206000-47207600	Flanking Active TSS	HMEC	breast
8	chr11:47206000-47208200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:47206200-47207400	Flanking Active TSS	NHLF	lung
12	chr11:47206200-47207600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47206200-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr11:47206200-47207600	Flanking Active TSS	Pancreas	Pancrea
15	chr11:47206200-47207800	Bivalent/Poised TSS	HepG2	liver
16	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
18	chr11:47206200-47209000	Active TSS	Gastric	stomach
19	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
20	chr11:47206400-47207400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:47206400-47207400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:47206400-47207400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:47206400-47207600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:47206400-47207600	Flanking Active TSS	Placenta	Placenta
25	chr11:47206400-47207800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr11:47206400-47207800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr11:47206400-47208200	Active TSS	Brain Angular Gyrus	brain
28	chr11:47206400-47208200	Active TSS	Brain Anterior Caudate	brain
29	chr11:47206400-47208200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:47206400-47209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr11:47206400-47209400	Active TSS	Colon Smooth Muscle	Colon
32	chr11:47206400-47209600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr11:47206600-47207400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr11:47206600-47207600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:47206600-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr11:47206600-47207600	Flanking Active TSS	HUVEC	blood vessel
37	chr11:47206600-47207800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:47206600-47207800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:47206600-47208000	Flanking Active TSS	Spleen	Spleen
40	chr11:47206600-47209200	Active TSS	Aorta	Aorta
41	chr11:47206600-47209600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:47206800-47207400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:47206800-47207400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47206800-47207400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr11:47206800-47207400	Flanking Active TSS	Dnd41	blood
46	chr11:47206800-47207600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:47206800-47207600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr11:47206800-47207600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr11:47206800-47207800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:47206800-47208200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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