Variant report

Variant	rs634129
Chromosome Location	chr5:43069478-43069479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:43069449-43069843	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
2	chr5:43068379..43069957-chr5:43079642..43081288,2	K562	blood:
3	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
4	chr5:43067084..43070080-chr5:43601534..43603658,2	K562	blood:
5	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
7	chr5:43068548..43069734-chr5:43105535..43106442,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177738	TF binding region
ENSG00000112992	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10805669	1.00[AMR][1000 genomes]
rs10971	1.00[AMR][1000 genomes]
rs16872916	1.00[AMR][1000 genomes]
rs1690990	1.00[AMR][1000 genomes]
rs4473775	1.00[AMR][1000 genomes]
rs4533896	1.00[AMR][1000 genomes]
rs4588602	1.00[AMR][1000 genomes]
rs4637561	1.00[AMR][1000 genomes]
rs6451679	1.00[AMR][1000 genomes]
rs6859969	1.00[AMR][1000 genomes]
rs6868271	1.00[AMR][1000 genomes]
rs6868325	1.00[AMR][1000 genomes]
rs6880391	1.00[AMR][1000 genomes]
rs6883407	1.00[AMR][1000 genomes]
rs7705935	1.00[AMR][1000 genomes]
rs7726407	1.00[AMR][1000 genomes]
rs782992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43065800-43069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:43067600-43069600	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr5:43067800-43069600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:43067800-43069600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:43067800-43071200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:43068000-43069800	Enhancers	Small Intestine	intestine
7	chr5:43068000-43070000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:43068000-43077600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:43068200-43069600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:43068200-43069600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:43068200-43069600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr5:43068200-43069600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:43068200-43074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:43068400-43069600	Enhancers	Primary B cells from cord blood	blood
15	chr5:43068400-43069600	Genic enhancers	Placenta	Placenta
16	chr5:43068400-43069600	Enhancers	Spleen	Spleen
17	chr5:43068400-43070800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:43068600-43069600	Flanking Active TSS	NHLF	lung
19	chr5:43068600-43070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:43068600-43070400	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr5:43068600-43070600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:43068600-43071200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:43068600-43071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:43068600-43082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:43068800-43069600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:43068800-43069600	Active TSS	Brain Angular Gyrus	brain
27	chr5:43068800-43069600	Enhancers	Fetal Heart	heart
28	chr5:43068800-43069600	Enhancers	Fetal Lung	lung
29	chr5:43068800-43069600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr5:43068800-43069600	Enhancers	Left Ventricle	heart
31	chr5:43068800-43069600	Enhancers	Ovary	ovary
32	chr5:43068800-43069600	Enhancers	Pancreas	Pancrea
33	chr5:43068800-43069600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr5:43068800-43069600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:43068800-43069600	Enhancers	Right Ventricle	heart
36	chr5:43068800-43069800	Enhancers	Liver	Liver
37	chr5:43068800-43070000	Genic enhancers	Fetal Thymus	thymus
38	chr5:43068800-43070200	Genic enhancers	Fetal Intestine Small	intestine
39	chr5:43068800-43070200	Weak transcription	A549	lung
40	chr5:43068800-43070400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:43068800-43070400	Enhancers	Fetal Brain Male	brain
42	chr5:43068800-43070800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:43068800-43070800	Weak transcription	Esophagus	oesophagus
44	chr5:43068800-43070800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:43068800-43071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:43068800-43071000	Weak transcription	Aorta	Aorta
47	chr5:43069000-43069600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:43069000-43069600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:43069000-43069600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:43069000-43069600	Enhancers	Adipose Nuclei	Adipose

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