Variant report

Variant	rs547484505
Chromosome Location	chr11:119564600-119564601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119563899..119565883-chr11:119570340..119572500,2	MCF-7	breast:
2	chr11:119556235..119560513-chr11:119562313..119564680,4	K562	blood:
3	chr11:119563935..119565490-chr11:119599078..119601378,2	MCF-7	breast:
4	chr11:119556235..119559099-chr11:119563178..119564680,2	K562	blood:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction
ENSG00000254854	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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
2	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:119553800-119565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119554600-119566400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:119555800-119568800	Weak transcription	Left Ventricle	heart
6	chr11:119556000-119568600	Weak transcription	Right Atrium	heart
7	chr11:119556000-119571600	Weak transcription	NHLF	lung
8	chr11:119556600-119564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:119556600-119565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:119559000-119567200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:119559400-119566200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:119559800-119570200	Enhancers	Fetal Thymus	thymus
13	chr11:119560400-119566400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:119560400-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:119560400-119569600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:119561000-119565600	Enhancers	Thymus	Thymus
17	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
18	chr11:119561200-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:119561400-119565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:119561400-119565400	Enhancers	Brain Germinal Matrix	brain
21	chr11:119561400-119566400	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:119561400-119568800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:119561600-119565600	Enhancers	GM12878-XiMat	blood
24	chr11:119561800-119564600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:119561800-119565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:119561800-119565200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:119561800-119566400	Enhancers	Brain Angular Gyrus	brain
28	chr11:119561800-119566400	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:119561800-119568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:119561800-119568800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
32	chr11:119562000-119564600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:119562000-119565400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:119562000-119565800	Enhancers	Brain Anterior Caudate	brain
35	chr11:119562000-119566400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:119562000-119568600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:119562200-119564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:119562200-119564600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr11:119562200-119564600	Enhancers	Fetal Brain Male	brain
41	chr11:119562200-119565200	Weak transcription	Primary B cells from cord blood	blood
42	chr11:119562200-119566600	Enhancers	Brain Substantia Nigra	brain
43	chr11:119562400-119564800	Weak transcription	Adipose Nuclei	Adipose
44	chr11:119562400-119564800	Weak transcription	HepG2	liver
45	chr11:119562400-119565200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr11:119562400-119571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:119562400-119571000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:119562600-119565800	Enhancers	Pancreas	Pancrea
49	chr11:119563000-119564800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:119563000-119567400	Weak transcription	Right Ventricle	heart

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