Variant report

Variant	rs531292389
Chromosome Location	chr11:57092998-57092999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

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	MAX	chr11:57091997-57093326	K562	blood:	n/a	chr11:57092097-57092106
3	E2F4	chr11:57092375-57093303	MCF10A-Er-Src	breast:	n/a	n/a
4	TBP	chr11:57092417-57093407	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr11:57092472-57093327	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:57092369-57093469	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:57092528-57093285	IMR90	lung:	n/a	n/a
8	HCFC1	chr11:57092287-57093263	K562	blood:	n/a	n/a
9	PAX5	chr11:57092427-57093035	GM12878	blood:	n/a	n/a
10	STAT3	chr11:57092577-57093000	MCF10A-Er-Src	breast:	n/a	chr11:57092972-57092992 chr11:57092978-57092986 chr11:57092944-57092952
11	EP300	chr11:57092451-57093350	K562	blood:	n/a	chr11:57092774-57092790
12	REST	chr11:57092409-57093184	HL-60	blood:	n/a	chr11:57092715-57092728
13	CTCF	chr11:57092980-57093130	AG04449	skin:	n/a	n/a
14	TBL1XR1	chr11:57092485-57093369	K562	blood:	n/a	n/a
15	STAT3	chr11:57092488-57093509	MCF10A-Er-Src	breast:	n/a	chr11:57092972-57092992 chr11:57092978-57092986 chr11:57092944-57092952
16	MAZ	chr11:57091646-57093233	Hela-S3	cervix:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
17	SP4	chr11:57092410-57093262	H1-hESC	embryonic stem cell:	n/a	chr11:57092462-57092478
18	NFIC	chr11:57092404-57093483	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:57092020-57093444	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:57092276-57093933	PANC-1	pancreas:	n/a	n/a
21	ATF2	chr11:57092427-57093405	GM12878	blood:	n/a	n/a
22	TEAD4	chr11:57092450-57093014	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:57092319-57093655	U87	brain:	n/a	n/a
24	CTCF	chr11:57092900-57093050	AG09319	gingival:	n/a	n/a
25	BRCA1	chr11:57092496-57093119	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:57092269-57093515	Hela-S3	cervix:	n/a	n/a
27	RELA	chr11:57092496-57093366	GM19193	blood:	n/a	n/a
28	POLR2A	chr11:57092375-57093470	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:57092277-57093613	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr11:57092272-57093830	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
32	RAD21	chr11:57092977-57093265	SK-N-SH_RA	brain:	n/a	n/a
33	BCL3	chr11:57092402-57093240	A549	lung:	n/a	chr11:57092715-57092724
34	POLR2A	chr11:57092292-57093593	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr11:57092405-57093682	K562	blood:	n/a	n/a
36	CTCF	chr11:57092900-57093050	NHDF-neo	bronchial:	n/a	n/a
37	TAF7	chr11:57092447-57093014	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr11:57092486-57093378	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr11:57091991-57093302	A549	lung:	n/a	chr11:57092097-57092106
40	POLR2A	chr11:57092313-57093679	U87	brain:	n/a	n/a
41	SMARCB1	chr11:57091464-57093354	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:57091891-57093482	K562	blood:	n/a	n/a
43	POLR2A	chr11:57092427-57093304	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:57091939-57093572	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:57091549-57093061	H1-neurons	neurons:	n/a	n/a
46	BHLHE40	chr11:57092369-57093352	K562	blood:	n/a	chr11:57093097-57093113
47	POLR2A	chr11:57091997-57093431	GM12878	blood:	n/a	n/a
48	RFX5	chr11:57092374-57093320	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:57092940-57093090	AoAF	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57092982-57093032	ECC-1	luminal epithelium:	n/a
2	chr11:57092982-57093032	ovcar-3	ovarian:	n/a
3	chr11:57092982-57093032	HUVEC	blood vessel:	n/a
4	chr11:57092982-57093032	HNPCEpiC	eye:	n/a
5	chr11:57092982-57093032	HEK293	kidney:	embryo
6	chr11:57092982-57093032	NT2-D1	testis:	n/a
7	chr11:57092982-57093032	Jurkat	blood:	n/a
8	chr11:57092982-57093032	GM12891	blood:	n/a
9	chr11:57092982-57093032	U87	brain:	n/a
10	chr11:57092982-57093032	HCPEpiC	choroid plexus:	n/a
11	chr11:57092982-57093032	NHBE	bronchial:	n/a
12	chr11:57092982-57093032	AG04450	lung:	fetal
13	chr11:57092982-57093032	NB4	blood:	n/a
14	chr11:57092982-57093032	MCF-7	breast:	n/a
15	chr11:57092982-57093032	HCF	heart:	n/a
16	chr11:57092982-57093032	GM19239	blood:	n/a
17	chr11:57092982-57093032	T-47D	breast:	n/a
18	chr11:57092982-57093032	AoSMC	blood vessel:	n/a
19	chr11:57092982-57093032	HL-60	blood:	n/a
20	chr11:57092982-57093032	GM12892	blood:	n/a
21	chr11:57092982-57093032	MCF10A-Er-Src	breast:	n/a
22	chr11:57092982-57093032	RPTEC	kidney:	n/a
23	chr11:57092982-57093032	SKMC	muscle:	n/a
24	chr11:57092982-57093032	A549	lung:	n/a
25	chr11:57092982-57093032	PrEC	prostate:	n/a
26	chr11:57092982-57093032	HIPEpiC	eye:	n/a
27	chr11:57092982-57093032	HAEpiC	amniotic membrane:	n/a
28	chr11:57092982-57093032	Hela-S3	cervix:	n/a
29	chr11:57092982-57093032	HMEC	breast:	n/a
30	chr11:57092982-57093032	H1-hESC	embryonic stem cell:	embryo
31	chr11:57092982-57093032	GM06990	blood:	n/a
32	chr11:57092982-57093032	HepG2	liver:	n/a
33	chr11:57092982-57093032	K562	blood:	n/a
34	chr11:57092982-57093032	HRCEpiC	kidney:	n/a
35	chr11:57092982-57093032	SAEC	small airway:	n/a
36	chr11:57092982-57093032	HCT-116	colon:	n/a
37	chr11:57092982-57093032	AG09319	gingival:	n/a
38	chr11:57092982-57093032	Caco-2	colon:	n/a
39	chr11:57092982-57093032	LNCaP	prostate:	n/a
40	chr11:57092982-57093032	SK-N-MC	brain:	n/a
41	chr11:57092982-57093032	PFSK-1	brain:	n/a
42	chr11:57092982-57093032	SK-N-SH_RA	brain:	n/a
43	chr11:57092982-57093032	ProgFib	skin:	n/a
44	chr11:57092982-57093032	CMK	blood:	n/a
45	chr11:57092982-57093032	AG04449	skin:	fetal
46	chr11:57092982-57093032	SK-N-SH	brain:	n/a
47	chr11:57092982-57093032	PANC-1	pancreas:	n/a
48	chr11:57092982-57093032	HCM	heart:	n/a
49	chr11:57092982-57093032	AG09309	skin:	n/a
50	chr11:57092982-57093032	Hepatocyte	liver:	n/a

(count:5 , 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:
5	chr11:57092687..57093324-chr7:135242342..135243244,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
TNKS1BP1	CpG island
ENSG00000254662	CpG island
ENSG00000155561	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000254979	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	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
4	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr11:57091000-57093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:57091000-57093000	Active TSS	Fetal Kidney	kidney
7	chr11:57091000-57093000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr11:57091000-57093200	Active TSS	Gastric	stomach
9	chr11:57091000-57093200	Active TSS	Small Intestine	intestine
10	chr11:57091200-57093000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:57091200-57093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:57091200-57093000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:57091200-57093000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:57091200-57093000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:57091200-57093000	Active TSS	Esophagus	oesophagus
16	chr11:57091200-57093000	Active TSS	Left Ventricle	heart
17	chr11:57091200-57093000	Active TSS	Lung	lung
18	chr11:57091200-57093000	Active TSS	HSMMtube	muscle
19	chr11:57091200-57093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:57091200-57093200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:57091200-57093200	Active TSS	Ovary	ovary
22	chr11:57091200-57093200	Active TSS	Psoas Muscle	Psoas
23	chr11:57091200-57093400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:57091400-57093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:57091400-57093000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:57091400-57093000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57091400-57093000	Active TSS	Primary T cells from cord blood	blood
28	chr11:57091400-57093000	Active TSS	Brain Angular Gyrus	brain
29	chr11:57091400-57093200	Active TSS	Fetal Brain Female	brain
30	chr11:57091600-57093000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:57091600-57093000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:57091600-57093000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr11:57091600-57093000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:57091600-57093000	Active TSS	Brain Anterior Caudate	brain
35	chr11:57091600-57093000	Active TSS	Brain Germinal Matrix	brain
36	chr11:57091600-57093000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:57091600-57093000	Active TSS	Colon Smooth Muscle	Colon
38	chr11:57091600-57093000	Active TSS	Fetal Intestine Large	intestine
39	chr11:57091600-57093000	Active TSS	Fetal Stomach	stomach
40	chr11:57091600-57093200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:57091600-57093200	Active TSS	Pancreas	Pancrea
42	chr11:57091800-57093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:57091800-57093000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:57091800-57093000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:57091800-57093000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:57091800-57093000	Active TSS	Brain Hippocampus Middle	brain
47	chr11:57091800-57093000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr11:57091800-57093000	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:57091800-57093000	Active TSS	Thymus	Thymus
50	chr11:57091800-57093000	Active TSS	Spleen	Spleen

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