Variant report

Variant	rs541531028
Chromosome Location	chr3:119868053-119868054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119811328..119819569-chr3:119859303..119870611,43	MCF-7	breast:
2	chr3:119854307..119856524-chr3:119867161..119869039,2	MCF-7	breast:
3	chr3:119867871..119870349-chr3:119875712..119877295,2	MCF-7	breast:
4	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
5	chr3:119847797..119849644-chr3:119865497..119868433,2	MCF-7	breast:
6	chr3:119865823..119868383-chr3:119871262..119874013,2	MCF-7	breast:
7	chr3:119809272..119819238-chr3:119861129..119869186,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119864600-119871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:119864800-119871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:119865000-119870800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:119865000-119870800	Weak transcription	Osteobl	bone
5	chr3:119865200-119870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:119865600-119868400	Enhancers	Primary T cells from cord blood	blood
7	chr3:119865600-119868400	Enhancers	Fetal Thymus	thymus
8	chr3:119865600-119868600	Enhancers	Thymus	Thymus
9	chr3:119865600-119868600	Enhancers	Dnd41	blood
10	chr3:119866200-119868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:119866200-119868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:119866400-119868400	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:119866400-119868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:119866600-119870800	Weak transcription	NHDF-Ad	bronchial
15	chr3:119866600-119871400	Weak transcription	Lung	lung
16	chr3:119866800-119871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:119867000-119870800	Weak transcription	Stomach Mucosa	stomach
18	chr3:119867000-119872000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:119867200-119869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:119867200-119871800	Enhancers	NHEK	skin
21	chr3:119867200-119872000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:119867200-119873400	Weak transcription	HSMMtube	muscle
23	chr3:119867600-119869400	Weak transcription	Fetal Intestine Small	intestine
24	chr3:119867600-119871000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:119867600-119871400	Weak transcription	Spleen	Spleen
26	chr3:119867600-119872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:119867800-119868400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:119867800-119869400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:119867800-119870200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:119867800-119870400	Weak transcription	HepG2	liver
31	chr3:119867800-119870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:119867800-119870800	Weak transcription	Placenta	Placenta
33	chr3:119867800-119870800	Weak transcription	Hela-S3	cervix
34	chr3:119867800-119870800	Weak transcription	HUVEC	blood vessel
35	chr3:119867800-119871000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:119867800-119871800	Weak transcription	Adipose Nuclei	Adipose
37	chr3:119867800-119871800	Weak transcription	Left Ventricle	heart
38	chr3:119868000-119870200	Weak transcription	Fetal Intestine Large	intestine
39	chr3:119868000-119870400	Weak transcription	HMEC	breast

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