Variant report

Variant	rs557561629
Chromosome Location	chr11:48004878-48004879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:
2	chr11:48001622..48003248-chr11:48003667..48005492,2	MCF-7	breast:
3	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv317	chr11:47995903-48007266	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48002800-48005400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:48003400-48005200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:48003600-48005000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:48003600-48005400	Enhancers	HUVEC	blood vessel
5	chr11:48003800-48005400	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:48003800-48005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:48003800-48006000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:48003800-48006000	Enhancers	NHDF-Ad	bronchial
9	chr11:48003800-48006200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr11:48003800-48007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:48003800-48008400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:48003800-48009000	Weak transcription	Left Ventricle	heart
13	chr11:48003800-48009000	Weak transcription	Right Atrium	heart
14	chr11:48003800-48009000	Weak transcription	Right Ventricle	heart
15	chr11:48003800-48012800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:48003800-48012800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:48003800-48012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:48003800-48012800	Weak transcription	Lung	lung
19	chr11:48004000-48005000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:48004000-48005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:48004000-48005000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:48004000-48005000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:48004000-48005000	Enhancers	Adipose Nuclei	Adipose
24	chr11:48004000-48005000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:48004000-48005000	Weak transcription	Esophagus	oesophagus
26	chr11:48004000-48005000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:48004000-48005200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:48004000-48005200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:48004000-48005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:48004000-48005400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:48004000-48005400	Enhancers	Liver	Liver
32	chr11:48004000-48005600	Enhancers	Fetal Intestine Large	intestine
33	chr11:48004000-48005800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:48004000-48005800	Enhancers	Placenta	Placenta
35	chr11:48004000-48006000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:48004000-48006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:48004000-48006000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:48004000-48006000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:48004000-48006000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:48004000-48006000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:48004000-48006200	Enhancers	Brain Anterior Caudate	brain
42	chr11:48004000-48007400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:48004000-48007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:48004000-48007600	Weak transcription	Pancreas	Pancrea
45	chr11:48004000-48007600	Weak transcription	Spleen	Spleen
46	chr11:48004000-48007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:48004000-48008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:48004000-48008400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:48004000-48008600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:48004000-48009200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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