Variant report

Variant	rs376799296
Chromosome Location	chr11:57092575-57092576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:244)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:57092448-57093375	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr11:57092495-57092935	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPD	chr11:57092320-57092853	HepG2	liver:	n/a	n/a
4	MAX	chr11:57091997-57093326	K562	blood:	n/a	chr11:57092097-57092106
5	E2F4	chr11:57092375-57093303	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr11:57092470-57092832	GM12878	blood:	n/a	n/a
7	TBP	chr11:57092417-57093407	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr11:57092472-57093327	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:57092369-57093469	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr11:57092528-57093285	IMR90	lung:	n/a	n/a
11	FOXA2	chr11:57092262-57092896	A549	lung:	n/a	n/a
12	HCFC1	chr11:57092287-57093263	K562	blood:	n/a	n/a
13	SP1	chr11:57092314-57092777	H1-hESC	embryonic stem cell:	n/a	chr11:57092601-57092610 chr11:57092463-57092473
14	PAX5	chr11:57092427-57093035	GM12878	blood:	n/a	n/a
15	EP300	chr11:57092451-57093350	K562	blood:	n/a	chr11:57092774-57092790
16	REST	chr11:57092409-57093184	HL-60	blood:	n/a	chr11:57092715-57092728
17	MAZ	chr11:57092400-57092896	HepG2	liver:	n/a	n/a
18	TBL1XR1	chr11:57092485-57093369	K562	blood:	n/a	n/a
19	STAT3	chr11:57092488-57093509	MCF10A-Er-Src	breast:	n/a	chr11:57092972-57092992 chr11:57092978-57092986 chr11:57092944-57092952
20	MAZ	chr11:57091646-57093233	Hela-S3	cervix:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
21	SP4	chr11:57092410-57093262	H1-hESC	embryonic stem cell:	n/a	chr11:57092462-57092478
22	NFIC	chr11:57092404-57093483	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:57092020-57093444	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr11:57092276-57093933	PANC-1	pancreas:	n/a	n/a
25	SIN3AK20	chr11:57092384-57092859	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:57092427-57093405	GM12878	blood:	n/a	n/a
27	TEAD4	chr11:57092450-57093014	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:57092319-57093655	U87	brain:	n/a	n/a
29	BRCA1	chr11:57092496-57093119	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr11:57092484-57092706	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:57092269-57093515	Hela-S3	cervix:	n/a	n/a
32	RELA	chr11:57092496-57093366	GM19193	blood:	n/a	n/a
33	POLR2A	chr11:57092375-57093470	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:57092277-57093613	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr11:57092272-57093830	SK-N-SH	brain:	n/a	n/a
36	JUND	chr11:57092258-57092961	A549	lung:	n/a	n/a
37	TAF1	chr11:57092260-57092917	HepG2	liver:	n/a	n/a
38	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
39	BCL3	chr11:57092402-57093240	A549	lung:	n/a	chr11:57092715-57092724
40	POLR2A	chr11:57092292-57093593	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr11:57092405-57093682	K562	blood:	n/a	n/a
42	TAF7	chr11:57092447-57093014	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF143	chr11:57092345-57092986	GM12878	blood:	n/a	n/a
44	MXI1	chr11:57092486-57093378	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:57091991-57093302	A549	lung:	n/a	chr11:57092097-57092106
46	POLR2A	chr11:57092313-57093679	U87	brain:	n/a	n/a
47	SMARCB1	chr11:57091464-57093354	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:57091891-57093482	K562	blood:	n/a	n/a
49	POLR2A	chr11:57092427-57093304	GM12891	blood:	n/a	n/a
50	POLR2A	chr11:57091939-57093572	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57092559-57092609	HRE	kidney:	n/a
2	chr11:57092548-57092598	GM06990	blood:	n/a
3	chr11:57092545-57092595	HMEC	breast:	n/a
4	chr11:57092548-57092598	HNPCEpiC	eye:	n/a
5	chr11:57092545-57092595	HIPEpiC	eye:	n/a
6	chr11:57092548-57092598	HMEC	breast:	n/a
7	chr11:57092548-57092598	NH-A	brain:	n/a
8	chr11:57092548-57092598	U87	brain:	n/a
9	chr11:57092548-57092598	BE2_C	brain:	n/a
10	chr11:57092545-57092595	PrEC	prostate:	n/a
11	chr11:57092548-57092598	AG09319	gingival:	n/a
12	chr11:57092548-57092598	LNCaP	prostate:	n/a
13	chr11:57092561-57092611	A549	lung:	n/a
14	chr11:57092548-57092598	PANC-1	pancreas:	n/a
15	chr11:57092545-57092595	HEK293	kidney:	embryo
16	chr11:57092561-57092611	ProgFib	skin:	n/a
17	chr11:57092559-57092609	CMK	blood:	n/a
18	chr11:57092559-57092609	AoSMC	blood vessel:	n/a
19	chr11:57092545-57092595	HRE	kidney:	n/a
20	chr11:57092561-57092611	SKMC	muscle:	n/a
21	chr11:57092548-57092598	AG04450	lung:	fetal
22	chr11:57092548-57092598	AG09309	skin:	n/a
23	chr11:57092545-57092595	Hepatocyte	liver:	n/a
24	chr11:57092545-57092595	IMR90	lung:	fetal
25	chr11:57092559-57092609	SK-N-SH_RA	brain:	n/a
26	chr11:57092559-57092609	GM06990	blood:	n/a
27	chr11:57092561-57092611	NHDF-neo	bronchial:	n/a
28	chr11:57092559-57092609	HCPEpiC	choroid plexus:	n/a
29	chr11:57092548-57092598	Hepatocyte	liver:	n/a
30	chr11:57092548-57092598	HCT-116	colon:	n/a
31	chr11:57092545-57092595	NT2-D1	testis:	n/a
32	chr11:57092545-57092595	NH-A	brain:	n/a
33	chr11:57092548-57092598	HAEpiC	amniotic membrane:	n/a
34	chr11:57092559-57092609	HL-60	blood:	n/a
35	chr11:57092545-57092595	NHDF-neo	bronchial:	n/a
36	chr11:57092548-57092598	ECC-1	luminal epithelium:	n/a
37	chr11:57092559-57092609	PANC-1	pancreas:	n/a
38	chr11:57092559-57092609	HCT-116	colon:	n/a
39	chr11:57092559-57092609	HCF	heart:	n/a
40	chr11:57092545-57092595	AG04449	skin:	fetal
41	chr11:57092561-57092611	PFSK-1	brain:	n/a
42	chr11:57092545-57092595	NB4	blood:	n/a
43	chr11:57092559-57092609	A549	lung:	n/a
44	chr11:57092561-57092611	AG10803	skin:	n/a
45	chr11:57092545-57092595	MCF-7	breast:	n/a
46	chr11:57092548-57092598	GM12878	blood:	n/a
47	chr11:57092548-57092598	HEK293	kidney:	embryo
48	chr11:57092545-57092595	GM12878	blood:	n/a
49	chr11:57092559-57092609	ProgFib	skin:	n/a
50	chr11:57092548-57092598	HEEpiC	esophagus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57091420..57094384-chr11:57190255..57192267,2	K562	blood:
2	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
3	chr11:57092537..57094239-chr11:57192344..57194712,2	K562	blood:
4	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
ENSG00000254662	CpG island
TNKS1BP1	CpG island
ENSG00000254979	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3408359	chr11:57090901-57093749	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3369727	chr11:57091026-57093624	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3403312	chr11:57091576-57093024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 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	chr11:57089200-57093600	Active TSS	Aorta	Aorta
2	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
5	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:57091000-57092800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57091000-57092800	Active TSS	Colonic Mucosa	Colon
8	chr11:57091000-57092800	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:57091000-57093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:57091000-57093000	Active TSS	Fetal Kidney	kidney
11	chr11:57091000-57093000	Active TSS	Placenta Amnion	Placenta Amnion
12	chr11:57091000-57093200	Active TSS	Gastric	stomach
13	chr11:57091000-57093200	Active TSS	Small Intestine	intestine
14	chr11:57091200-57092600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:57091200-57092600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:57091200-57092600	Active TSS	NHLF	lung
17	chr11:57091200-57092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:57091200-57092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:57091200-57092800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:57091200-57092800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:57091200-57092800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:57091200-57092800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:57091200-57092800	Active TSS	HSMM	muscle
24	chr11:57091200-57092800	Active TSS	NHDF-Ad	bronchial
25	chr11:57091200-57092800	Active TSS	NHEK	skin
26	chr11:57091200-57093000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:57091200-57093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:57091200-57093000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:57091200-57093000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:57091200-57093000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:57091200-57093000	Active TSS	Esophagus	oesophagus
32	chr11:57091200-57093000	Active TSS	Left Ventricle	heart
33	chr11:57091200-57093000	Active TSS	Lung	lung
34	chr11:57091200-57093000	Active TSS	HSMMtube	muscle
35	chr11:57091200-57093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:57091200-57093200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:57091200-57093200	Active TSS	Ovary	ovary
38	chr11:57091200-57093200	Active TSS	Psoas Muscle	Psoas
39	chr11:57091200-57093400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr11:57091400-57092600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:57091400-57092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:57091400-57092800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:57091400-57092800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:57091400-57092800	Active TSS	Brain Cingulate Gyrus	brain
45	chr11:57091400-57092800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr11:57091400-57092800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:57091400-57092800	Active TSS	A549	lung
48	chr11:57091400-57093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:57091400-57093000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:57091400-57093000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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