Variant report

Variant	rs747119
Chromosome Location	chr5:43036643-43036644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43029361..43030941-chr5:43036238..43037788,2	K562	blood:
2	chr5:43035484..43037039-chr5:43065046..43066591,2	MCF-7	breast:
3	chr5:43029265..43030861-chr5:43036238..43038466,2	K562	blood:
4	chr5:43034822..43036954-chr5:43065370..43067961,2	K562	blood:
5	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:
6	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
7	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
8	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
9	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:
10	chr5:43035327..43037045-chr5:43062681..43064782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1001718	1.00[AMR][1000 genomes]
rs10070393	1.00[AMR][1000 genomes]
rs28659803	1.00[AMR][1000 genomes]
rs3849700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55730625	1.00[AMR][1000 genomes]
rs60192164	1.00[AMR][1000 genomes]
rs60384612	1.00[AMR][1000 genomes]
rs61328340	1.00[AMR][1000 genomes]
rs6859504	1.00[AMR][1000 genomes]
rs6860747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6864556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869639	1.00[AMR][1000 genomes]
rs6877778	1.00[AMR][1000 genomes]
rs6879509	1.00[AMR][1000 genomes]
rs6881357	1.00[AMR][1000 genomes]
rs6886169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891509	1.00[AMR][1000 genomes]
rs6891660	1.00[AMR][1000 genomes]
rs6895975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6897663	1.00[AMR][1000 genomes]
rs73088862	1.00[AMR][1000 genomes]
rs73088863	1.00[AMR][1000 genomes]
rs73088878	1.00[AMR][1000 genomes]
rs73754524	1.00[AMR][1000 genomes]
rs73754532	1.00[AMR][1000 genomes]
rs747118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7703982	1.00[AMR][1000 genomes]
rs7710205	1.00[AMR][1000 genomes]
rs7717370	1.00[AMR][1000 genomes]
rs7718462	1.00[AMR][1000 genomes]
rs7737740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020800-43037400	Weak transcription	HSMM	muscle
2	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
3	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:43034000-43037000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:43034200-43037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:43034400-43037000	Enhancers	Primary T cells from cord blood	blood
8	chr5:43034400-43037400	Enhancers	Dnd41	blood
9	chr5:43034600-43036800	Weak transcription	Placenta	Placenta
10	chr5:43034600-43037000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:43034600-43037200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:43034600-43037200	Weak transcription	Pancreas	Pancrea
13	chr5:43034600-43037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:43034600-43037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:43034800-43037000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:43034800-43037000	Weak transcription	NHDF-Ad	bronchial
17	chr5:43034800-43037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:43035000-43037000	Weak transcription	Right Atrium	heart
19	chr5:43035000-43037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:43035000-43038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:43035200-43037200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:43035200-43037600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:43035200-43039600	Weak transcription	Hela-S3	cervix
24	chr5:43035400-43036800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:43035400-43036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:43035400-43036800	Weak transcription	Adipose Nuclei	Adipose
27	chr5:43035400-43036800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:43035400-43036800	Enhancers	HUVEC	blood vessel
29	chr5:43035400-43037000	Weak transcription	NHEK	skin
30	chr5:43035400-43037200	Weak transcription	Thymus	Thymus
31	chr5:43035400-43037200	Weak transcription	NHLF	lung
32	chr5:43035400-43037400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:43035400-43038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:43035600-43037200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:43035600-43039200	Weak transcription	HepG2	liver
36	chr5:43035800-43037000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:43035800-43037000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:43035800-43039400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:43036000-43037200	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:43036200-43037000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:43036200-43037000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:43036200-43037000	Weak transcription	NH-A	brain
43	chr5:43036200-43037200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:43036200-43037400	Enhancers	Fetal Thymus	thymus
45	chr5:43036400-43037000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:43036400-43037000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:43036400-43037000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr5:43036400-43037400	Enhancers	GM12878-XiMat	blood
49	chr5:43036600-43036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:43036600-43037000	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links