Variant report

Variant	rs536772714
Chromosome Location	chr11:47208095-47208096
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	RCOR1	chr11:47207977-47208699	HepG2	liver:	n/a	n/a
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	POLR2A	chr11:47207027-47208413	HUVEC	blood vessel:	n/a	n/a
6	MAZ	chr11:47206739-47208699	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
7	POLR2A	chr11:47207803-47208273	A549	lung:	n/a	n/a
8	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
9	MAX	chr11:47207947-47208229	K562	blood:	n/a	n/a
10	CTCF	chr11:47208060-47208210	GM12873	blood:	n/a	n/a
11	CTCF	chr11:47208020-47208170	GM12871	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	HEY1	chr11:47208032-47209653	HepG2	liver:	n/a	chr11:47208076-47208091 chr11:47208189-47208204
14	TAF1	chr11:47207976-47209221	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr11:47208084-47208575	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:47208060-47208210	SK-N-SH_RA	brain:	n/a	n/a
17	JUND	chr11:47207877-47208312	A549	lung:	n/a	chr11:47207894-47207902
18	CTCF	chr11:47208020-47208170	GM12866	blood:	n/a	n/a
19	POLR2A	chr11:47208027-47208765	HepG2	liver:	n/a	n/a
20	CTCF	chr11:47208080-47208230	AG04450	lung:	n/a	n/a
21	MYC	chr11:47207699-47208583	K562	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
22	MAZ	chr11:47207648-47208105	GM12878	blood:	n/a	chr11:47207774-47207784
23	POLR2A	chr11:47206995-47208166	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:47208040-47208190	AG04450	lung:	n/a	n/a
25	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
26	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
27	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:47207023-47208266	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:47208006-47208231	SK-N-SH	brain:	n/a	n/a
30	UBTF	chr11:47207515-47208439	K562	blood:	n/a	n/a
31	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
32	MYC	chr11:47207510-47208853	NB4	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
33	CTCF	chr11:47208046-47208157	H1-hESC	embryonic stem cell:	n/a	n/a
34	SMC3	chr11:47206759-47208652	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:47207642-47208766	K562	blood:	n/a	n/a
36	POLR2A	chr11:47207962-47209079	PANC-1	pancreas:	n/a	n/a
37	EP300	chr11:47207858-47210318	SK-N-SH	brain:	n/a	chr11:47208078-47208094 chr11:47208901-47208917
38	MAX	chr11:47206944-47208373	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
39	POLR2A	chr11:47206762-47209024	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:47208000-47208150	HEEpiC	esophagus:	n/a	n/a
41	CCNT2	chr11:47207495-47208240	K562	blood:	n/a	n/a
42	CTCF	chr11:47208020-47208170	HEK293	kidney:	n/a	n/a
43	E2F6	chr11:47207822-47208934	A549	lung:	n/a	chr11:47207859-47207869
44	POLR2A	chr11:47207711-47208515	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr11:47207670-47208186	GM12878	blood:	n/a	chr11:47207830-47207843
46	CEBPD	chr11:47207912-47208285	HepG2	liver:	n/a	n/a
47	CTCF	chr11:47208060-47208210	HUVEC	blood vessel:	n/a	n/a
48	TAF1	chr11:47206979-47208305	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
50	ZBTB7A	chr11:47207390-47208154	K562	blood:	n/a	chr11:47207621-47207629

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	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
10	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
11	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
12	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
13	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
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	chr11:47207498..47208217-chr9:132514941..132515486,2	Hela-S3	cervix:
20	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000256746	Chromatin interaction
ENSG00000115170	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000148344	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47205600-47208200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:47205600-47208200	Active TSS	Left Ventricle	heart
3	chr11:47205800-47208200	Active TSS	Right Ventricle	heart
4	chr11:47206000-47208200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
9	chr11:47206200-47209000	Active TSS	Gastric	stomach
10	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
11	chr11:47206400-47208200	Active TSS	Brain Angular Gyrus	brain
12	chr11:47206400-47208200	Active TSS	Brain Anterior Caudate	brain
13	chr11:47206400-47208200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:47206400-47209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:47206400-47209400	Active TSS	Colon Smooth Muscle	Colon
16	chr11:47206400-47209600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:47206600-47209200	Active TSS	Aorta	Aorta
18	chr11:47206600-47209600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:47206800-47208200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47206800-47208200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:47206800-47208200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:47206800-47208200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr11:47206800-47208200	Transcr. at gene 5' and 3'	Right Atrium	heart
24	chr11:47206800-47208200	Active TSS	HSMMtube	muscle
25	chr11:47206800-47208200	Active TSS	NHEK	skin
26	chr11:47206800-47208400	Active TSS	NHDF-Ad	bronchial
27	chr11:47206800-47208600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:47206800-47208600	Active TSS	A549	lung
29	chr11:47206800-47209000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:47206800-47209200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:47206800-47209200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:47206800-47209200	Active TSS	Fetal Kidney	kidney
33	chr11:47206800-47209200	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:47206800-47209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:47206800-47209400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:47207000-47208200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:47207000-47208200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:47207000-47208200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47207000-47208200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:47207000-47208200	Active TSS	Brain Hippocampus Middle	brain
41	chr11:47207000-47208200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:47207000-47208200	Active TSS	Fetal Intestine Large	intestine
43	chr11:47207000-47208200	Active TSS	Fetal Intestine Small	intestine
44	chr11:47207000-47208200	Active TSS	Fetal Lung	lung
45	chr11:47207000-47208200	Active TSS	Hela-S3	cervix
46	chr11:47207000-47208200	Active TSS	HSMM	muscle
47	chr11:47207000-47208200	Active TSS	NH-A	brain
48	chr11:47207000-47208200	Active TSS	Osteobl	bone
49	chr11:47207000-47208400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:47207000-47208400	Active TSS	Brain Cingulate Gyrus	brain

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