Variant report

Variant	rs187749790
Chromosome Location	chr11:47207581-47207582
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	CTCF	chr11:47207567-47207965	K562	blood:	n/a	chr11:47207830-47207843
2	POLR2A	chr11:47204907-47209088	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47206994-47208479	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3AK20	chr11:47206948-47208390	PANC-1	pancreas:	n/a	n/a
5	MAX	chr11:47207101-47207631	HepG2	liver:	n/a	chr11:47207105-47207115 chr11:47207475-47207485
6	POLR2A	chr11:47206807-47207594	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:47207027-47208413	HUVEC	blood vessel:	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	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
10	MYC	chr11:47206835-47208235	MCF10A-Er-Src	breast:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
11	POLR2A	chr11:47206986-47207990	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:47206995-47208166	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
14	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
15	MAX	chr11:47206933-47207658	MCF-7	breast:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485
16	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr11:47206881-47207828	A549	lung:	n/a	n/a
18	POLR2A	chr11:47207023-47208266	MCF-7	breast:	n/a	n/a
19	UBTF	chr11:47207515-47208439	K562	blood:	n/a	n/a
20	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
21	MYC	chr11:47207510-47208853	NB4	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
22	SMC3	chr11:47206759-47208652	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:47206359-47207815	HepG2	liver:	n/a	chr11:47207010-47207020 chr11:47207603-47207613
24	MAX	chr11:47206944-47208373	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
25	POLR2A	chr11:47206762-47209024	Hela-S3	cervix:	n/a	n/a
26	TBP	chr11:47206223-47207586	HepG2	liver:	n/a	n/a
27	CCNT2	chr11:47207495-47208240	K562	blood:	n/a	n/a
28	CEBPD	chr11:47206286-47207614	HepG2	liver:	n/a	n/a
29	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
30	TAF1	chr11:47206979-47208305	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
32	ZBTB7A	chr11:47207390-47208154	K562	blood:	n/a	chr11:47207621-47207629
33	POLR2A	chr11:47207109-47208325	A549	lung:	n/a	n/a
34	TCF12	chr11:47206863-47208050	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr11:47206922-47208468	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
36	CTCF	chr11:47207540-47207690	GM12872	blood:	n/a	n/a
37	TFAP2C	chr11:47206328-47207954	Hela-S3	cervix:	n/a	chr11:47207258-47207273
38	NR2F2	chr11:47206282-47207990	MCF-7	breast:	n/a	n/a
39	ZBTB7A	chr11:47206741-47208157	ECC-1	luminal epithelium:	n/a	chr11:47207621-47207629
40	MAZ	chr11:47206259-47209176	HepG2	liver:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
41	CTCF	chr11:47207534-47208111	K562	blood:	n/a	chr11:47207830-47207843
42	ETS1	chr11:47207556-47207796	K562	blood:	n/a	n/a
43	MAX	chr11:47206741-47208902	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
44	ELF1	chr11:47207475-47207749	K562	blood:	n/a	n/a
45	E2F6	chr11:47207309-47208674	K562	blood:	n/a	chr11:47207859-47207869
46	POLR2A	chr11:47207478-47208268	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr11:47207460-47207610	BJ	skin:	n/a	n/a
48	TCF7L2	chr11:47207028-47208488	HCT-116	colon:	n/a	n/a
49	TAF1	chr11:47206966-47207904	ECC-1	luminal epithelium:	n/a	n/a
50	MXI1	chr11:47206977-47209401	IMR90	lung:	n/a	n/a

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	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:
7	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
8	chr11:47207552..47208216-chr2:158732302..158733110,2	Hela-S3	cervix:
9	chr11:47206987..47207900-chr17:56736234..56736875,2	Hela-S3	cervix:
10	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
11	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
12	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
13	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
14	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
15	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
16	chr11:47207092..47208885-chr11:47420633..47423542,2	K562	blood:
17	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
18	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
19	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
20	chr11:47206949..47207677-chr19:17326146..17326928,2	Hela-S3	cervix:
21	chr11:47207498..47208217-chr9:132514941..132515486,2	Hela-S3	cervix:
22	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:
23	chr11:47207450..47208007-chr5:137910613..137911381,2	Hela-S3	cervix:

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000134574	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000113013	Chromatin interaction
ENSG00000115170	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000148344	Chromatin interaction
ENSG00000243802	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	chr11:47205600-47208200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:47205600-47208200	Active TSS	Left Ventricle	heart
4	chr11:47205800-47208200	Active TSS	Right Ventricle	heart
5	chr11:47206000-47207600	Flanking Active TSS	HMEC	breast
6	chr11:47206000-47208200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:47206200-47207600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:47206200-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr11:47206200-47207600	Flanking Active TSS	Pancreas	Pancrea
12	chr11:47206200-47207800	Bivalent/Poised TSS	HepG2	liver
13	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
15	chr11:47206200-47209000	Active TSS	Gastric	stomach
16	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
17	chr11:47206400-47207600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:47206400-47207600	Flanking Active TSS	Placenta	Placenta
19	chr11:47206400-47207800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr11:47206400-47207800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr11:47206400-47208200	Active TSS	Brain Angular Gyrus	brain
22	chr11:47206400-47208200	Active TSS	Brain Anterior Caudate	brain
23	chr11:47206400-47208200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:47206400-47209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:47206400-47209400	Active TSS	Colon Smooth Muscle	Colon
26	chr11:47206400-47209600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:47206600-47207600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:47206600-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr11:47206600-47207600	Flanking Active TSS	HUVEC	blood vessel
30	chr11:47206600-47207800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr11:47206600-47207800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:47206600-47208000	Flanking Active TSS	Spleen	Spleen
33	chr11:47206600-47209200	Active TSS	Aorta	Aorta
34	chr11:47206600-47209600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:47206800-47207600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:47206800-47207600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr11:47206800-47207600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
38	chr11:47206800-47207800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:47206800-47208200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:47206800-47208200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:47206800-47208200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:47206800-47208200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:47206800-47208200	Transcr. at gene 5' and 3'	Right Atrium	heart
44	chr11:47206800-47208200	Active TSS	HSMMtube	muscle
45	chr11:47206800-47208200	Active TSS	NHEK	skin
46	chr11:47206800-47208400	Active TSS	NHDF-Ad	bronchial
47	chr11:47206800-47208600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:47206800-47208600	Active TSS	A549	lung
49	chr11:47206800-47209000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:47206800-47209200	Active TSS	H1 Cell Line	embryonic stem cell

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