Variant report

Variant	rs551716715
Chromosome Location	chr11:47448189-47448190
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	EP300	chr11:47447544-47448256	ECC-1	luminal epithelium:	n/a	chr11:47447714-47447723
2	RCOR1	chr11:47447615-47448630	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr11:47447784-47448413	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:47447125-47448610	GM12892	blood:	n/a	n/a
5	YY1	chr11:47447485-47448517	SK-N-SH_RA	brain:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
6	POLR2A	chr11:47447425-47448331	GM18951	blood:	n/a	n/a
7	TAF1	chr11:47447468-47448292	MCF-7	breast:	n/a	n/a
8	ELF1	chr11:47447683-47448350	HepG2	liver:	n/a	chr11:47448027-47448039
9	HCFC1	chr11:47445853-47449989	Hela-S3	cervix:	n/a	n/a
10	EP300	chr11:47447631-47448192	HepG2	liver:	n/a	chr11:47447714-47447723
11	YY1	chr11:47447394-47448569	SK-N-SH	brain:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
12	POLR2A	chr11:47447559-47448935	HepG2	liver:	n/a	n/a
13	GABPA	chr11:47447769-47448387	K562	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
14	CCNT2	chr11:47447660-47448234	K562	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
15	TAF1	chr11:47447382-47448241	H1-hESC	embryonic stem cell:	n/a	n/a
16	KAP1	chr11:47447732-47449045	HEK293	kidney:	n/a	chr11:47447903-47447911
17	SP1	chr11:47447730-47448296	K562	blood:	n/a	chr11:47448028-47448037 chr11:47448026-47448038 chr11:47448118-47448130 chr11:47448120-47448129 chr11:47448119-47448128 chr11:47448027-47448037 chr11:47448120-47448129 chr11:47448115-47448129 chr11:47448027-47448036 chr11:47448026-47448038 chr11:47448027-47448036 chr11:47448119-47448129 chr11:47448118-47448130 chr11:47448119-47448129 chr11:47448027-47448037
18	E2F1	chr11:47447749-47448287	Hela-S3	cervix:	n/a	chr11:47448076-47448087 chr11:47448119-47448128 chr11:47448028-47448037 chr11:47448051-47448062 chr11:47448051-47448063
19	FOXM1	chr11:47447664-47448331	MCF-7	breast:	n/a	n/a
20	BCL3	chr11:47447901-47448587	A549	lung:	n/a	n/a
21	BRCA1	chr11:47447810-47448263	HepG2	liver:	n/a	n/a
22	MYC	chr11:47448143-47448207	HepG2	liver:	n/a	n/a
23	PAX5	chr11:47447605-47448441	GM12878	blood:	n/a	n/a
24	EP300	chr11:47447615-47448376	GM12878	blood:	n/a	chr11:47447714-47447723
25	ATF3	chr11:47447741-47448575	A549	lung:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
26	MBD4	chr11:47447743-47448349	HepG2	liver:	n/a	n/a
27	EGR1	chr11:47447625-47448299	MCF-7	breast:	n/a	chr11:47448028-47448043 chr11:47448029-47448042 chr11:47448029-47448042 chr11:47448030-47448040 chr11:47448028-47448042 chr11:47448026-47448040 chr11:47448171-47448195 chr11:47448029-47448039 chr11:47448029-47448042 chr11:47448119-47448129 chr11:47448114-47448127 chr11:47448029-47448042 chr11:47448030-47448039 chr11:47448024-47448046 chr11:47448027-47448037
28	FOXM1	chr11:47447414-47448264	GM12878	blood:	n/a	n/a
29	GABPA	chr11:47447338-47448757	MCF-7	breast:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
30	SIX5	chr11:47447722-47448411	GM12878	blood:	n/a	chr11:47448183-47448192 chr11:47448185-47448194 chr11:47448182-47448196
31	SP1	chr11:47447437-47448645	HCT-116	colon:	n/a	chr11:47448028-47448037 chr11:47448026-47448038 chr11:47448118-47448130 chr11:47448120-47448129 chr11:47448119-47448128 chr11:47448027-47448037 chr11:47448120-47448129 chr11:47447621-47447635 chr11:47448115-47448129 chr11:47448027-47448036 chr11:47448026-47448038 chr11:47448027-47448036 chr11:47448119-47448129 chr11:47448118-47448130 chr11:47448119-47448129 chr11:47448027-47448037
32	ZNF143	chr11:47447694-47448534	K562	blood:	n/a	chr11:47448176-47448194 chr11:47447718-47447736 chr11:47448185-47448194 chr11:47448183-47448192
33	MAX	chr11:47447561-47448747	SK-N-SH	brain:	n/a	n/a
34	JUN	chr11:47447721-47448305	K562	blood:	n/a	n/a
35	ELK1	chr11:47447649-47448452	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr11:47447921-47448266	GM12878	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
37	HA-E2F1	chr11:47447752-47448275	Hela-S3	cervix:	n/a	chr11:47448076-47448087 chr11:47448119-47448128 chr11:47448028-47448037 chr11:47448051-47448062 chr11:47448051-47448063
38	YY1	chr11:47447522-47448211	NT2-D1	testis:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
39	EP300	chr11:47447346-47448357	K562	blood:	n/a	chr11:47447714-47447723
40	YY1	chr11:47447311-47448281	GM12892	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
41	MYC	chr11:47447591-47448459	K562	blood:	n/a	n/a
42	STAT5A	chr11:47447634-47448229	K562	blood:	n/a	n/a
43	MAX	chr11:47447678-47448252	K562	blood:	n/a	n/a
44	MYBL2	chr11:47447619-47448604	HepG2	liver:	n/a	n/a
45	PAX5	chr11:47447969-47448477	GM12878	blood:	n/a	n/a
46	NFYB	chr11:47447895-47448269	K562	blood:	n/a	n/a
47	YY1	chr11:47447191-47448364	GM12878	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
48	ZBTB7A	chr11:47447871-47448237	K562	blood:	n/a	n/a
49	TAF1	chr11:47447377-47448249	A549	lung:	n/a	n/a
50	GABPA	chr11:47447903-47448315	HepG2	liver:	n/a	chr11:47448119-47448128 chr11:47448028-47448037

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47448172-47448222	GM12878	blood:	n/a
2	chr11:47448170-47448220	IMR90	lung:	fetal
3	chr11:47448172-47448222	HCPEpiC	choroid plexus:	n/a
4	chr11:47448172-47448222	PFSK-1	brain:	n/a
5	chr11:47448172-47448222	HIPEpiC	eye:	n/a
6	chr11:47448170-47448220	HMEC	breast:	n/a
7	chr11:47448170-47448220	ProgFib	skin:	n/a
8	chr11:47448172-47448222	ECC-1	luminal epithelium:	n/a
9	chr11:47448170-47448220	CMK	blood:	n/a
10	chr11:47448172-47448222	PrEC	prostate:	n/a
11	chr11:47448172-47448222	Hepatocyte	liver:	n/a
12	chr11:47448170-47448220	U87	brain:	n/a
13	chr11:47448170-47448220	HepG2	liver:	n/a
14	chr11:47448170-47448220	SKMC	muscle:	n/a
15	chr11:47448172-47448222	AoSMC	blood vessel:	n/a
16	chr11:47448172-47448222	HepG2	liver:	n/a
17	chr11:47448170-47448220	AG09319	gingival:	n/a
18	chr11:47448170-47448220	GM06990	blood:	n/a
19	chr11:47448170-47448220	T-47D	breast:	n/a
20	chr11:47448172-47448222	IMR90	lung:	fetal
21	chr11:47448172-47448222	SK-N-SH_RA	brain:	n/a
22	chr11:47448172-47448222	SAEC	small airway:	n/a
23	chr11:47448172-47448222	HUVEC	blood vessel:	n/a
24	chr11:47448170-47448220	NHBE	bronchial:	n/a
25	chr11:47448170-47448220	ovcar-3	ovarian:	n/a
26	chr11:47448172-47448222	MCF-7	breast:	n/a
27	chr11:47448170-47448220	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:47448170-47448220	HEEpiC	esophagus:	n/a
29	chr11:47448170-47448220	HEK293	kidney:	embryo
30	chr11:47448172-47448222	Caco-2	colon:	n/a
31	chr11:47448170-47448220	NT2-D1	testis:	n/a
32	chr11:47448172-47448222	BE2_C	brain:	n/a
33	chr11:47448172-47448222	HEEpiC	esophagus:	n/a
34	chr11:47448172-47448222	NHBE	bronchial:	n/a
35	chr11:47448170-47448220	HIPEpiC	eye:	n/a
36	chr11:47448172-47448222	HCM	heart:	n/a
37	chr11:47448172-47448222	NH-A	brain:	n/a
38	chr11:47448172-47448222	NB4	blood:	n/a
39	chr11:47448172-47448222	HRPEpiC	eye:	n/a
40	chr11:47448172-47448222	T-47D	breast:	n/a
41	chr11:47448172-47448222	NHDF-neo	bronchial:	n/a
42	chr11:47448170-47448220	GM19239	blood:	n/a
43	chr11:47448170-47448220	HCT-116	colon:	n/a
44	chr11:47448172-47448222	RPTEC	kidney:	n/a
45	chr11:47448170-47448220	HAEpiC	amniotic membrane:	n/a
46	chr11:47448170-47448220	LNCaP	prostate:	n/a
47	chr11:47448170-47448220	GM12878	blood:	n/a
48	chr11:47448170-47448220	HRE	kidney:	n/a
49	chr11:47448172-47448222	HL-60	blood:	n/a
50	chr11:47448172-47448222	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
2	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
3	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
4	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
5	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:

Variant related genes	Relation type
PSMC3	TF binding region
PSMC3	CpG island
ENSG00000066336	Chromatin interaction
ENSG00000252327	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000149182	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
10	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47446600-47448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:47446600-47449000	Active TSS	Psoas Muscle	Psoas
3	chr11:47446800-47448400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47446800-47448400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47446800-47448400	Active TSS	Small Intestine	intestine
6	chr11:47446800-47448600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:47446800-47448600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:47447000-47448400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47447000-47448400	Active TSS	Aorta	Aorta
10	chr11:47447000-47448600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:47447000-47448600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:47447000-47448600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:47447000-47448600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:47447000-47448600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:47447000-47448800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:47447000-47448800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:47447000-47448800	Active TSS	Esophagus	oesophagus
20	chr11:47447000-47448800	Active TSS	Gastric	stomach
21	chr11:47447000-47448800	Active TSS	NHLF	lung
22	chr11:47447000-47449000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:47447000-47449000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:47447000-47449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:47447000-47449000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:47447000-47449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:47447000-47449000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:47447000-47449000	Active TSS	Fetal Kidney	kidney
29	chr11:47447000-47449000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:47447000-47449000	Active TSS	Left Ventricle	heart
31	chr11:47447000-47449000	Active TSS	Lung	lung
32	chr11:47447000-47449000	Active TSS	Ovary	ovary
33	chr11:47447000-47449000	Active TSS	Pancreas	Pancrea
34	chr11:47447000-47449000	Active TSS	A549	lung
35	chr11:47447000-47449000	Active TSS	NHDF-Ad	bronchial
36	chr11:47447000-47449200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:47447200-47448200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:47447200-47448400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:47447200-47448600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:47447200-47448600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:47447200-47448600	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:47447200-47448600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:47447200-47448600	Active TSS	Fetal Heart	heart
44	chr11:47447200-47448600	Active TSS	Fetal Lung	lung
45	chr11:47447200-47448600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:47447200-47448600	Active TSS	HSMMtube	muscle
47	chr11:47447200-47448600	Active TSS	K562	blood
48	chr11:47447200-47448800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:47447200-47448800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:47447200-47448800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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