Variant report

Variant	rs112243086
Chromosome Location	chr7:39872668-39872669
allele	C/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	POLR2A	chr7:39872645-39873145	Gliobla	brain:	n/a	n/a
2	HA-E2F1	chr7:39872552-39873450	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:39872660-39873176	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:39872562-39873013	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000233225	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	esv3366065	chr7:39871977-39874075	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39872400-39872800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:39872400-39872800	Enhancers	NHDF-Ad	bronchial
3	chr7:39872400-39873000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr7:39872400-39873000	Bivalent Enhancer	HUVEC	blood vessel
5	chr7:39872400-39873200	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:39872400-39873200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:39872400-39873400	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr7:39872400-39873400	Active TSS	HMEC	breast
9	chr7:39872400-39873600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:39872400-39873800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:39872400-39874200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:39872400-39874400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:39872400-39874400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:39872600-39872800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:39872600-39872800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
16	chr7:39872600-39873000	Enhancers	Adipose Nuclei	Adipose
17	chr7:39872600-39873200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:39872600-39873200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
19	chr7:39872600-39873200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:39872600-39873200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:39872600-39873200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:39872600-39873200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr7:39872600-39873200	Active TSS	Fetal Muscle Leg	muscle
24	chr7:39872600-39873200	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr7:39872600-39873400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:39872600-39873400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:39872600-39873400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr7:39872600-39873400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:39872600-39873600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:39872600-39873600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:39872600-39873600	Active TSS	Brain Hippocampus Middle	brain
32	chr7:39872600-39873800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:39872600-39874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:39872600-39874200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:39872600-39874400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:39872600-39875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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