Variant report

Variant	rs527269845
Chromosome Location	chr3:141378019-141378020
allele	G/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	SRF	chr3:141377901-141378378	ECC-1	luminal epithelium:	n/a	chr3:141378144-141378162
2	SRF	chr3:141378016-141378231	HepG2	liver:	n/a	chr3:141378144-141378162
3	SRF	chr3:141377997-141378242	H1-hESC	embryonic stem cell:	n/a	chr3:141378144-141378162
4	SRF	chr3:141377976-141378295	ECC-1	luminal epithelium:	n/a	chr3:141378144-141378162
5	SRF	chr3:141377996-141378332	H1-hESC	embryonic stem cell:	n/a	chr3:141378144-141378162

No.	Distal block	Cell Line	Cell type
1	chr3:141376839..141379290-chr3:141593720..141595646,2	MCF-7	breast:
2	chr3:141286560..141289498-chr3:141377973..141379933,2	MCF-7	breast:
3	chr3:141361177..141363053-chr3:141377745..141380110,2	MCF-7	breast:
4	chr3:141377266..141379551-chr3:141385595..141387849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242104	TF binding region
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3335270	chr3:141377810-141378085	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141376200-141378200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:141377000-141378400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr3:141377600-141379400	Active TSS	Aorta	Aorta
4	chr3:141377600-141379600	Active TSS	Colon Smooth Muscle	Colon
5	chr3:141377600-141379600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr3:141377600-141379800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr3:141377600-141379800	Active TSS	Rectal Smooth Muscle	rectum
8	chr3:141377800-141378200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr3:141377800-141378200	Bivalent Enhancer	Fetal Lung	lung
10	chr3:141377800-141378200	Bivalent Enhancer	HepG2	liver
11	chr3:141377800-141378600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:141377800-141378800	Enhancers	Fetal Heart	heart
13	chr3:141378000-141378200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr3:141378000-141378200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:141378000-141378200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
16	chr3:141378000-141378200	Bivalent/Poised TSS	Placenta	Placenta
17	chr3:141378000-141378200	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr3:141378000-141378200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr3:141378000-141378200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
20	chr3:141378000-141378400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr3:141378000-141378400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:141378000-141378400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:141378000-141378400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr3:141378000-141378400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:141378000-141378400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:141378000-141378400	Bivalent Enhancer	Liver	Liver
27	chr3:141378000-141378400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr3:141378000-141378600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr3:141378000-141378600	Enhancers	Fetal Kidney	kidney
30	chr3:141378000-141378600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr3:141378000-141378600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr3:141378000-141379000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:141378000-141379400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr3:141378000-141379400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:141378000-141380000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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