Variant report

Variant	rs541997296
Chromosome Location	chr11:47838646-47838647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47837659..47841122-chr11:47868262..47870678,3	MCF-7	breast:
2	chr11:47827857..47829429-chr11:47836945..47838836,2	K562	blood:

Variant related genes	Relation type
ENSG00000030066	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	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
4	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
8	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:47796400-47858800	Strong transcription	Liver	Liver
22	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
24	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
25	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47796800-47852000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:47798400-47845200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:47798400-47864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:47798600-47851600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:47805200-47846200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:47807000-47865600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:47810200-47846000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:47812400-47849000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:47814600-47850000	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:47815200-47851800	Strong transcription	Fetal Intestine Large	intestine
38	chr11:47817600-47851400	Strong transcription	Fetal Brain Female	brain
39	chr11:47818200-47839200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:47819600-47841000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:47819800-47839600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:47819800-47840400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:47820000-47843600	Strong transcription	Osteobl	bone
44	chr11:47820000-47864800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:47822800-47842400	Weak transcription	Pancreas	Pancrea
46	chr11:47823000-47854600	Weak transcription	Fetal Heart	heart
47	chr11:47823200-47854800	Weak transcription	Aorta	Aorta
48	chr11:47826000-47841600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:47831600-47845600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:47831800-47838800	Strong transcription	Placenta Amnion	Placenta Amnion

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