Variant report

Variant	rs566493452
Chromosome Location	chr11:57091177-57091178
allele	-/TG
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	CTCF	chr11:57091080-57091230	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr11:57091100-57091250	HA-sp	spinal cord:	n/a	n/a
3	MAZ	chr11:57091036-57091236	K562	blood:	n/a	n/a
4	CTCF	chr11:57091100-57091250	HFF	foreskin:	n/a	n/a
5	CTCF	chr11:57091100-57091250	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:57091160-57091310	HUVEC	blood vessel:	n/a	n/a
7	ELK1	chr11:57091107-57091201	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr11:57091075-57091265	K562	blood:	n/a	chr11:57091202-57091212
9	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
10	CTCF	chr11:57091100-57091250	AG04449	skin:	n/a	n/a
11	CTCF	chr11:57091060-57091210	HMEC	breast:	n/a	n/a
12	MAZ	chr11:57088363-57091353	IMR90	lung:	n/a	chr11:57090749-57090760 chr11:57090120-57090129 chr11:57089544-57089554
13	CHD2	chr11:57091004-57091247	GM12878	blood:	n/a	chr11:57091202-57091212
14	CTCF	chr11:57091040-57091190	AG04449	skin:	n/a	n/a
15	CTCF	chr11:57091100-57091250	HCFaa	heart:	n/a	n/a
16	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:57091060-57091210	AG10803	skin:	n/a	n/a
18	CTCF	chr11:57091100-57091250	HAc	cerebellar:	n/a	n/a
19	CTCF	chr11:57091080-57091230	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr11:57091060-57091210	A549	lung:	n/a	n/a
21	CTCF	chr11:57091120-57091270	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr11:57091060-57091210	HCT-116	colon:	n/a	n/a
23	POLR2A	chr11:57090873-57091967	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr11:57089269-57091198	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:57089356-57091231	SK-N-MC	brain:	n/a	n/a
26	CTCF	chr11:57091040-57091190	HPF	lung:	n/a	n/a
27	CTCF	chr11:57091080-57091230	SAEC	small airway:	n/a	n/a
28	MYC	chr11:57091163-57091267	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr11:57091040-57091190	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr11:57091080-57091230	AG10803	skin:	n/a	n/a
31	MXI1	chr11:57089010-57093760	SK-N-SH	brain:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
32	CTCF	chr11:57091071-57091213	K562	blood:	n/a	n/a
33	CTCF	chr11:57091160-57091310	HCT-116	colon:	n/a	n/a
34	POLR2A	chr11:57091067-57092232	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr11:57091080-57091230	BJ	skin:	n/a	n/a
36	RCOR1	chr11:57091046-57091195	K562	blood:	n/a	n/a
37	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
38	CTCF	chr11:57091100-57091250	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr11:57091080-57091230	NHLF	lung:	n/a	n/a
40	CTCF	chr11:57091060-57091210	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr11:57091060-57091210	HCM	heart:	n/a	n/a
42	CTCF	chr11:57091060-57091210	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:57091160-57091310	HCM	heart:	n/a	n/a
44	CTCF	chr11:57091040-57091190	HRE	kidney:	n/a	n/a
45	CTCF	chr11:57091100-57091250	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr11:57091120-57091270	AG04450	lung:	n/a	n/a
47	CTCF	chr11:57091040-57091190	RPTEC	kidney:	n/a	n/a
48	CTCF	chr11:57091040-57091190	BE2_C	brain:	n/a	n/a
49	POLR2A	chr11:57089539-57093525	IMR90	lung:	n/a	n/a
50	CTCF	chr11:57091139-57091183	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:
2	chr11:57090718..57092392-chr11:57160324..57163137,2	K562	blood:

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
ENSG00000255301	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:57083800-57091400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:57085400-57091200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:57086200-57091200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:57088200-57091600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57088800-57091400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:57088800-57091800	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr11:57088800-57091800	Active TSS	Right Atrium	heart
10	chr11:57088800-57091800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:57089000-57091200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:57089000-57091200	Flanking Active TSS	HSMM	muscle
13	chr11:57089000-57091400	Flanking Active TSS	NH-A	brain
14	chr11:57089000-57091600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:57089200-57091200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:57089200-57091200	Enhancers	Dnd41	blood
17	chr11:57089200-57091400	Enhancers	Spleen	Spleen
18	chr11:57089200-57091600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr11:57089200-57091600	Flanking Active TSS	Hela-S3	cervix
20	chr11:57089200-57091600	Flanking Active TSS	K562	blood
21	chr11:57089200-57091600	Flanking Active TSS	Osteobl	bone
22	chr11:57089200-57091800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:57089200-57093600	Active TSS	Aorta	Aorta
24	chr11:57089400-57091200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:57089400-57091400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:57089400-57091400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:57089400-57091600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:57089400-57091800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr11:57089400-57091800	Flanking Active TSS	Placenta	Placenta
30	chr11:57089600-57091200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:57089600-57091200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:57089600-57091200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:57089600-57091400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57089600-57091400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:57089800-57091400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:57090000-57091200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:57090000-57091200	Flanking Active TSS	NHEK	skin
39	chr11:57090000-57091400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:57090000-57091400	Flanking Active TSS	HepG2	liver
41	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
43	chr11:57090200-57091200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:57090200-57091200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57090200-57091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:57090200-57091200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:57090200-57091200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:57090200-57091200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:57090200-57091200	Flanking Active TSS	Stomach Mucosa	stomach
50	chr11:57090200-57091200	Flanking Active TSS	HSMMtube	muscle

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