Variant report

Variant	rs58086545
Chromosome Location	chr2:47189242-47189243
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47187033..47189469-chr2:47193836..47195878,3	K562	blood:
2	chr2:47187196..47189575-chr2:47193868..47196024,2	MCF-7	breast:
3	chr2:47188627..47191352-chr2:48004786..48007353,2	MCF-7	breast:
4	chr2:47187193..47190243-chr2:47190337..47193752,4	MCF-7	breast:
5	chr2:47187408..47189376-chr2:47192162..47193765,2	K562	blood:
6	chr2:47164675..47170526-chr2:47188235..47196918,12	MCF-7	breast:
7	chr2:47188341..47190485-chr2:47209167..47212158,2	MCF-7	breast:
8	chr2:47181921..47184110-chr2:47186607..47189262,2	MCF-7	breast:
9	chr2:47188688..47191664-chr2:47211239..47213547,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000272814	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1010724	1.00[AMR][1000 genomes]
rs11884772	1.00[AMR][1000 genomes]
rs11887906	1.00[AMR][1000 genomes]
rs11899789	1.00[AMR][1000 genomes]
rs13427974	1.00[AMR][1000 genomes]
rs17036015	1.00[AMR][1000 genomes]
rs17036119	1.00[AMR][1000 genomes]
rs2163984	1.00[AMR][1000 genomes]
rs36006218	1.00[AMR][1000 genomes]
rs6732744	1.00[AMR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47173000-47191800	Weak transcription	Fetal Brain Male	brain
3	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:47176400-47192600	Strong transcription	Dnd41	blood
5	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:47177400-47192800	Strong transcription	Fetal Stomach	stomach
7	chr2:47177600-47190000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:47177600-47191200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:47178400-47192800	Strong transcription	Thymus	Thymus
10	chr2:47178600-47189800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:47178800-47189400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:47178800-47190000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:47178800-47191400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:47179000-47191000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:47179000-47192800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:47179200-47195000	Strong transcription	Fetal Thymus	thymus
17	chr2:47179400-47189600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:47179400-47191400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:47179400-47192200	Strong transcription	Primary B cells from cord blood	blood
20	chr2:47179400-47192600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:47179400-47193800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:47179800-47189400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:47181200-47192200	Strong transcription	GM12878-XiMat	blood
24	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:47182600-47189800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:47182600-47190400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:47182800-47189600	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:47183000-47189800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:47183000-47189800	Weak transcription	K562	blood
30	chr2:47183000-47192000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:47183000-47195000	Weak transcription	Small Intestine	intestine
32	chr2:47183200-47190400	Strong transcription	Osteobl	bone
33	chr2:47183400-47191000	Strong transcription	NHLF	lung
34	chr2:47183400-47191200	Strong transcription	HSMM	muscle
35	chr2:47183400-47192200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:47183400-47192600	Strong transcription	Fetal Intestine Large	intestine
37	chr2:47183400-47193400	Strong transcription	Fetal Intestine Small	intestine
38	chr2:47183600-47190000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:47183600-47190000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:47183600-47190200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:47183600-47190600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:47183600-47190800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:47183800-47189400	Strong transcription	Adipose Nuclei	Adipose
44	chr2:47183800-47189600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:47183800-47189800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:47184200-47194400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:47184600-47190000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:47184600-47197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:47184800-47190800	Weak transcription	HUVEC	blood vessel

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