Variant report

Variant	rs192289469
Chromosome Location	chr11:56948074-56948075
allele	C/G
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	E2F6	chr11:56947513-56948451	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:56947474-56948242	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:56947504-56948201	H1-neurons	neurons:	n/a	n/a
4	CTBP2	chr11:56947016-56949186	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:56947690-56948393	H1-hESC	embryonic stem cell:	n/a	chr11:56947950-56947960
6	E2F6	chr11:56947722-56948358	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr11:56947182-56948253	H1-neurons	neurons:	n/a	chr11:56947456-56947474 chr11:56947915-56947928 chr11:56947782-56947795 chr11:56947911-56947931
8	ZNF143	chr11:56947186-56948247	H1-hESC	embryonic stem cell:	n/a	chr11:56947765-56947783
9	MAX	chr11:56947678-56948277	H1-hESC	embryonic stem cell:	n/a	chr11:56947950-56947960

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56946370..56948285-chr11:56958607..56960284,2	MCF-7	breast:

Variant related genes	Relation type
LRRC55	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv12593	chr11:56946787-56948827	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56946600-56948600	Enhancers	Pancreas	Pancrea
2	chr11:56946800-56948600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:56947000-56948200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:56947000-56948400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:56947000-56948400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:56947200-56948200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:56947200-56948200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:56947200-56948200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:56947200-56948400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr11:56947200-56948400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:56947200-56948400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:56947200-56948400	Active TSS	Fetal Brain Female	brain
13	chr11:56947200-56948600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr11:56947400-56948200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:56947400-56948200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
16	chr11:56947400-56948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:56947400-56948400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:56947400-56948400	Active TSS	Brain Angular Gyrus	brain
19	chr11:56947400-56948600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:56947400-56948600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:56947600-56948200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:56947600-56948200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:56947600-56948200	Active TSS	Brain Anterior Caudate	brain
24	chr11:56947600-56948400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr11:56947600-56948400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr11:56947600-56948600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:56947600-56948600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr11:56947600-56948800	Bivalent Enhancer	Fetal Lung	lung
29	chr11:56947800-56948200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:56947800-56948200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:56947800-56948200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:56947800-56948200	Enhancers	Gastric	stomach
33	chr11:56947800-56948200	Enhancers	Right Ventricle	heart
34	chr11:56947800-56948400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr11:56947800-56948400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr11:56947800-56948400	Enhancers	Right Atrium	heart
37	chr11:56947800-56948600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr11:56947800-56948800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr11:56947800-56948800	Flanking Active TSS	Fetal Brain Male	brain
40	chr11:56947800-56950200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr11:56947800-56950200	Enhancers	Lung	lung
42	chr11:56947800-56952000	Enhancers	Spleen	Spleen
43	chr11:56948000-56948200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:56948000-56948200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:56948000-56948200	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr11:56948000-56948200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr11:56948000-56948400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr11:56948000-56948400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:56948000-56948600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:56948000-56948600	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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