Variant report

Variant	rs556011323
Chromosome Location	chr11:47206751-47206752
allele	G/T
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	MAZ	chr11:47206739-47208699	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
3	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
4	RXRA	chr11:47206197-47206926	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
6	SP1	chr11:47206157-47206801	HepG2	liver:	n/a	chr11:47206420-47206434
7	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
8	MYBL2	chr11:47206092-47207498	HepG2	liver:	n/a	n/a
9	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
10	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
11	CHD2	chr11:47206359-47207815	HepG2	liver:	n/a	chr11:47207010-47207020 chr11:47207603-47207613
12	FOSL2	chr11:47206684-47207146	A549	lung:	n/a	chr11:47206924-47206935 chr11:47206925-47206933
13	TBP	chr11:47206223-47207586	HepG2	liver:	n/a	n/a
14	HDAC2	chr11:47206076-47206766	HepG2	liver:	n/a	chr11:47206500-47206509
15	GABPA	chr11:47206741-47207421	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPD	chr11:47206286-47207614	HepG2	liver:	n/a	n/a
17	MAX	chr11:47206124-47206859	HepG2	liver:	n/a	n/a
18	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
19	POLR2A	chr11:47206412-47207411	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
21	BHLHE40	chr11:47206364-47206751	HepG2	liver:	n/a	n/a
22	NFIC	chr11:47206180-47206814	HepG2	liver:	n/a	n/a
23	TFAP2C	chr11:47206328-47207954	Hela-S3	cervix:	n/a	chr11:47207258-47207273
24	JUND	chr11:47206725-47207384	A549	lung:	n/a	chr11:47206924-47206935 chr11:47206925-47206933
25	FOXA1	chr11:47206161-47206770	HepG2	liver:	n/a	n/a
26	HNF4A	chr11:47205752-47207458	HepG2	liver:	n/a	chr11:47206582-47206595 chr11:47205795-47205809 chr11:47206583-47206595 chr11:47206580-47206598 chr11:47205797-47205805 chr11:47205796-47205809
27	NR2F2	chr11:47206282-47207990	MCF-7	breast:	n/a	n/a
28	ZBTB7A	chr11:47206741-47208157	ECC-1	luminal epithelium:	n/a	chr11:47207621-47207629
29	POLR2A	chr11:47206158-47207517	HepG2	liver:	n/a	n/a
30	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
31	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
32	FOXA1	chr11:47206216-47206763	HepG2	liver:	n/a	n/a
33	MBD4	chr11:47206313-47206924	HepG2	liver:	n/a	n/a
34	RFX5	chr11:47206051-47207396	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:47206518-47208836	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:47206669-47209147	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr11:47206695-47207489	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr11:47206303-47207803	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:47205622-47209522	HepG2	liver:	n/a	n/a
40	HDAC2	chr11:47206215-47206758	HepG2	liver:	n/a	chr11:47206500-47206509
41	TEAD4	chr11:47206716-47207385	HepG2	liver:	n/a	n/a
42	SMARCC1	chr11:47206499-47207484	Hela-S3	cervix:	n/a	chr11:47206925-47206934
43	SMARCB1	chr11:47206126-47209435	Hela-S3	cervix:	n/a	chr11:47206925-47206934
44	TAF1	chr11:47206198-47208277	HepG2	liver:	n/a	n/a
45	HEY1	chr11:47206104-47208001	HepG2	liver:	n/a	chr11:47207851-47207866
46	HEY1	chr11:47206217-47209216	HepG2	liver:	n/a	chr11:47208076-47208091 chr11:47208189-47208204 chr11:47207851-47207866
47	POLR2A	chr11:47206184-47208860	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:47206679-47209306	A549	lung:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
49	POLR2A	chr11:47206224-47206800	HepG2	liver:	n/a	n/a
50	EP300	chr11:47206163-47206752	HepG2	liver:	n/a	chr11:47206499-47206509

No.	Distal block	Cell Line	Cell type
1	chr11:47205835..47208468-chr11:47280225..47282817,2	MCF-7	breast:
2	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
3	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
4	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
5	chr11:47204494..47207545-chr11:47289955..47292546,3	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	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
9	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
10	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
11	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
12	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
13	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
14	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
15	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
16	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
17	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000025434	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000256746	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:102 , 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	chr11:47199600-47206800	Weak transcription	Fetal Kidney	kidney
3	chr11:47199600-47207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47200000-47207200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:47200200-47206800	Weak transcription	Dnd41	blood
6	chr11:47200400-47207200	Weak transcription	K562	blood
7	chr11:47205600-47206800	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr11:47205600-47207000	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr11:47205600-47207400	Flanking Active TSS	Liver	Liver
10	chr11:47205600-47208200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:47205600-47208200	Active TSS	Left Ventricle	heart
12	chr11:47205800-47206800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47205800-47208200	Active TSS	Right Ventricle	heart
14	chr11:47206000-47207000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47206000-47207000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:47206000-47207000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr11:47206000-47207000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:47206000-47207400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:47206000-47207600	Flanking Active TSS	HMEC	breast
20	chr11:47206000-47208200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:47206200-47206800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:47206200-47206800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:47206200-47207000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:47206200-47207000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:47206200-47207000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:47206200-47207000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr11:47206200-47207000	Flanking Active TSS	Hela-S3	cervix
30	chr11:47206200-47207000	Flanking Active TSS	NH-A	brain
31	chr11:47206200-47207400	Flanking Active TSS	NHLF	lung
32	chr11:47206200-47207600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:47206200-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:47206200-47207600	Flanking Active TSS	Pancreas	Pancrea
35	chr11:47206200-47207800	Bivalent/Poised TSS	HepG2	liver
36	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
38	chr11:47206200-47209000	Active TSS	Gastric	stomach
39	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
40	chr11:47206400-47206800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:47206400-47206800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:47206400-47206800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47206400-47206800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:47206400-47206800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:47206400-47206800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:47206400-47206800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:47206400-47206800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:47206400-47206800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr11:47206400-47206800	Flanking Active TSS	Fetal Heart	heart
50	chr11:47206400-47206800	Active TSS	Right Atrium	heart

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