Variant report

Variant	rs551392024
Chromosome Location	chr11:57091419-57091420
allele	A/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	ZBTB7A	chr11:57091354-57092381	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
2	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
3	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
4	EP300	chr11:57091370-57091902	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:57090873-57091967	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:57091276-57091999	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr11:57089010-57093760	SK-N-SH	brain:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
8	POLR2A	chr11:57091067-57092232	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:57091381-57093887	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
11	MAZ	chr11:57091354-57093515	IMR90	lung:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
12	ZBTB7A	chr11:57091249-57092390	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
13	POLR2A	chr11:57089539-57093525	IMR90	lung:	n/a	n/a
14	ZBTB7A	chr11:57091308-57092825	K562	blood:	n/a	chr11:57092124-57092133
15	EP300	chr11:57091347-57091926	A549	lung:	n/a	n/a
16	REST	chr11:57091340-57093450	H1-neurons	neurons:	n/a	chr11:57092715-57092728
17	HMGN3	chr11:57091330-57091791	K562	blood:	n/a	chr11:57091577-57091584

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
TNKS1BP1	TF binding region
ENSG00000254662	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57088200-57091600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:57088800-57091800	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr11:57088800-57091800	Active TSS	Right Atrium	heart
4	chr11:57088800-57091800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:57089000-57091600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr11:57089200-57091600	Flanking Active TSS	Fetal Intestine Small	intestine
7	chr11:57089200-57091600	Flanking Active TSS	Hela-S3	cervix
8	chr11:57089200-57091600	Flanking Active TSS	K562	blood
9	chr11:57089200-57091600	Flanking Active TSS	Osteobl	bone
10	chr11:57089200-57091800	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr11:57089200-57093600	Active TSS	Aorta	Aorta
12	chr11:57089400-57091600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:57089400-57091800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr11:57089400-57091800	Flanking Active TSS	Placenta	Placenta
15	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
18	chr11:57090200-57091600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:57090200-57091600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:57090200-57091600	Flanking Active TSS	Fetal Lung	lung
21	chr11:57090200-57091600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:57090200-57091600	Flanking Active TSS	HMEC	breast
23	chr11:57090200-57091800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr11:57090200-57091800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:57090400-57091600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:57090400-57091600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr11:57090400-57091800	Flanking Active TSS	Fetal Brain Male	brain
28	chr11:57090600-57091600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:57090600-57091600	Flanking Active TSS	Liver	Liver
30	chr11:57090600-57091800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:57090600-57091800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:57090600-57092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:57090800-57091600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:57090800-57091600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:57090800-57091600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:57090800-57091600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:57090800-57091600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:57090800-57091600	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr11:57090800-57091600	Flanking Active TSS	Fetal Stomach	stomach
40	chr11:57090800-57091800	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:57091000-57091600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:57091000-57091600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr11:57091000-57091600	Enhancers	Fetal Heart	heart
45	chr11:57091000-57091800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:57091000-57091800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr11:57091000-57091800	Flanking Active TSS	Thymus	Thymus
48	chr11:57091000-57091800	Flanking Active TSS	HUVEC	blood vessel
49	chr11:57091000-57092800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57091000-57092800	Active TSS	Colonic Mucosa	Colon

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