Variant report

Variant	rs550274742
Chromosome Location	chr6:56955006-56955007
allele	C/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	TCF7L2	chr6:56954592-56955101	Hela-S3	cervix:	n/a	chr6:56954887-56954901 chr6:56954890-56954897
2	SIN3AK20	chr6:56954551-56955097	PFSK-1	brain:	n/a	n/a
3	MAZ	chr6:56954550-56955075	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:56954539-56955371	A549	lung:	n/a	n/a
5	POLR2A	chr6:56954647-56955535	MCF-7	breast:	n/a	n/a
6	ETS1	chr6:56954546-56955074	GM12878	blood:	n/a	chr6:56954792-56954805 chr6:56954791-56954804
7	GABPA	chr6:56954590-56955305	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:56954436-56955204	HEK293	kidney:	n/a	n/a
9	TCF7L2	chr6:56954583-56955094	MCF-7	breast:	n/a	chr6:56954887-56954901 chr6:56954890-56954897
10	STAT5A	chr6:56954465-56955072	GM12878	blood:	n/a	n/a
11	GATA3	chr6:56954651-56955037	T-47D	breast:	n/a	chr6:56954751-56954761
12	SP1	chr6:56954397-56955086	HCT-116	colon:	n/a	chr6:56954712-56954722 chr6:56954712-56954722 chr6:56954711-56954722 chr6:56954711-56954723
13	NFATC1	chr6:56954440-56955097	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr6:56954499-56955118	H1-hESC	embryonic stem cell:	n/a	n/a
15	ETS1	chr6:56954492-56955164	K562	blood:	n/a	chr6:56954792-56954805 chr6:56954791-56954804
16	BCLAF1	chr6:56954456-56955077	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:56954384-56955093	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:56954541-56955109	HCT-116	colon:	n/a	n/a
19	POLR2A	chr6:56954538-56955827	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr6:56954333-56955142	K562	blood:	n/a	n/a
21	POLR2A	chr6:56954546-56955759	Hela-S3	cervix:	n/a	n/a
22	TBP	chr6:56954510-56955074	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:56954494-56955199	NB4	blood:	n/a	n/a
24	E2F6	chr6:56954549-56955071	H1-hESC	embryonic stem cell:	n/a	chr6:56954972-56954983
25	TCF12	chr6:56954479-56955110	ECC-1	luminal epithelium:	n/a	chr6:56954725-56954732 chr6:56954694-56954701 chr6:56954693-56954703 chr6:56954504-56954513
26	POLR2A	chr6:56954629-56955193	MCF10A-Er-Src	breast:	n/a	n/a
27	REST	chr6:56954543-56955465	SK-N-SH	brain:	n/a	chr6:56954712-56954725
28	POLR2A	chr6:56954637-56955471	MCF-7	breast:	n/a	n/a
29	SIN3AK20	chr6:56954576-56955601	HepG2	liver:	n/a	n/a
30	RCOR1	chr6:56954363-56955123	K562	blood:	n/a	n/a
31	SIN3AK20	chr6:56954529-56955131	K562	blood:	n/a	n/a
32	TAF1	chr6:56954499-56955073	H1-neurons	neurons:	n/a	n/a
33	NR2F2	chr6:56954064-56955216	K562	blood:	n/a	chr6:56954199-56954214
34	GABPA	chr6:56954257-56955129	MCF-7	breast:	n/a	n/a
35	GABPA	chr6:56954637-56955252	GM12878	blood:	n/a	n/a
36	ETS1	chr6:56954548-56955114	K562	blood:	n/a	chr6:56954792-56954805 chr6:56954791-56954804
37	NFIC	chr6:56954406-56955094	HepG2	liver:	n/a	n/a
38	YY1	chr6:56954540-56955146	K562	blood:	n/a	n/a
39	IRF1	chr6:56954445-56955077	K562	blood:	n/a	chr6:56954523-56954533 chr6:56954709-56954723 chr6:56954523-56954537 chr6:56954522-56954539 chr6:56954522-56954534 chr6:56954538-56954548 chr6:56954519-56954533
40	PML	chr6:56954546-56955058	GM12878	blood:	n/a	chr6:56954843-56954851
41	FOXA1	chr6:56954643-56955006	T-47D	breast:	n/a	n/a
42	SP1	chr6:56954502-56955415	GM12878	blood:	n/a	chr6:56954712-56954722 chr6:56955255-56955267 chr6:56954712-56954722 chr6:56954711-56954722 chr6:56954711-56954723
43	POLR2A	chr6:56954546-56955110	HUVEC	blood vessel:	n/a	n/a
44	TEAD4	chr6:56954336-56955375	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:56954470-56956307	GM12891	blood:	n/a	n/a
46	POLR2A	chr6:56954400-56955479	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr6:56954443-56955131	K562	blood:	n/a	n/a
48	SP1	chr6:56954426-56955033	GM12878	blood:	n/a	chr6:56954712-56954722 chr6:56954712-56954722 chr6:56954711-56954722 chr6:56954711-56954723
49	ELF1	chr6:56954574-56955064	SK-N-SH	brain:	n/a	n/a
50	POU2F2	chr6:56954628-56955160	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:56954167..56956467-chr6:57034197..57037095,2	K562	blood:
2	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
3	chr6:56954866..56956566-chr6:56964924..56967496,2	MCF-7	breast:
4	chr6:56818586..56820160-chr6:56954804..56956394,2	K562	blood:
5	chr6:56954591..56956568-chr6:57036921..57038610,2	MCF-7	breast:
6	chr6:56818533..56822842-chr6:56954657..56959004,6	K562	blood:
7	chr6:56911241..56911877-chr6:56954515..56955089,3	Hela-S3	cervix:

Variant related genes	Relation type
ZNF451	TF binding region
ENSG00000112200	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000168116	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000151917	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv350038	chr6:56953752-56960124	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 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	chr6:56954000-56966800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:56954200-56955200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:56954200-56955200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:56954200-56955200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:56954200-56955200	Active TSS	Brain Angular Gyrus	brain
6	chr6:56954200-56955200	Active TSS	Brain Anterior Caudate	brain
7	chr6:56954200-56955200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:56954200-56955200	Active TSS	Fetal Kidney	kidney
9	chr6:56954200-56955200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:56954200-56955200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:56954200-56955200	Active TSS	A549	lung
12	chr6:56954400-56955200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:56954400-56955200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:56954400-56955200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:56954400-56955200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:56954400-56955200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:56954400-56955200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:56954400-56955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:56954400-56955200	Active TSS	Aorta	Aorta
20	chr6:56954400-56955200	Active TSS	Brain Germinal Matrix	brain
21	chr6:56954400-56955200	Active TSS	Colonic Mucosa	Colon
22	chr6:56954400-56955200	Active TSS	Esophagus	oesophagus
23	chr6:56954400-56955200	Active TSS	Fetal Intestine Small	intestine
24	chr6:56954400-56955200	Active TSS	Fetal Muscle Trunk	muscle
25	chr6:56954400-56955200	Active TSS	Left Ventricle	heart
26	chr6:56954400-56955200	Active TSS	Ovary	ovary
27	chr6:56954400-56955200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr6:56954400-56955200	Active TSS	Psoas Muscle	Psoas
29	chr6:56954400-56955200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr6:56954600-56955200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr6:56954600-56955200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:56954600-56955200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:56954600-56955200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:56954600-56955200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:56954600-56955200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:56954600-56955200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:56954600-56955200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:56954600-56955200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:56954600-56955200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:56954600-56955200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:56954600-56955200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:56954600-56955200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:56954600-56955200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:56954600-56955200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:56954600-56955200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:56954600-56955200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:56954600-56955200	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr6:56954600-56955200	Active TSS	Primary B cells from peripheral blood	blood
49	chr6:56954600-56955200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:56954600-56955200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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