Variant report

Variant	rs58248202
Chromosome Location	chr2:10577539-10577540
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10436760..10438833-chr2:10575893..10578796,2	K562	blood:
2	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
3	chr2:10211139..10213662-chr2:10577265..10580581,3	K562	blood:
4	chr2:10576627..10579490-chr2:10637993..10639882,2	K562	blood:
5	chr2:10576963..10578657-chr2:10781507..10783403,2	K562	blood:
6	chr2:10274850..10277272-chr2:10576045..10578779,2	MCF-7	breast:
7	chr2:10576992..10579344-chr2:10785593..10787982,2	K562	blood:
8	chr2:10280100..10282129-chr2:10577300..10579069,2	K562	blood:
9	chr2:10575512..10577802-chr2:10798677..10801641,2	K562	blood:
10	chr2:10563024..10567104-chr2:10575922..10579187,4	K562	blood:
11	chr2:10260468..10264697-chr2:10574031..10578504,11	K562	blood:
12	chr2:10577312..10579046-chr2:10586617..10588445,2	MCF-7	breast:
13	chr2:10574523..10578424-chr2:10586610..10589556,4	MCF-7	breast:
14	chr2:10222153..10224864-chr2:10577181..10579965,2	K562	blood:
15	chr2:10167700..10169244-chr2:10577457..10579553,2	K562	blood:
16	chr2:10220116..10221674-chr2:10575778..10578568,2	K562	blood:
17	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
18	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
19	chr2:10444615..10447130-chr2:10577332..10580177,3	K562	blood:
20	chr2:10419219..10421556-chr2:10576829..10579033,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000163009	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000233502	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10170147	1.00[EUR][1000 genomes]
rs10189026	1.00[EUR][1000 genomes]
rs10203520	1.00[EUR][1000 genomes]
rs10203529	1.00[EUR][1000 genomes]
rs11897672	1.00[EUR][1000 genomes]
rs11903106	1.00[EUR][1000 genomes]
rs11904157	1.00[EUR][1000 genomes]
rs11904263	1.00[EUR][1000 genomes]
rs13401475	1.00[EUR][1000 genomes]
rs16856239	1.00[EUR][1000 genomes]
rs16856397	1.00[EUR][1000 genomes]
rs28362390	0.81[ASN][1000 genomes]
rs28362406	1.00[EUR][1000 genomes]
rs28362407	1.00[EUR][1000 genomes]
rs28362418	1.00[EUR][1000 genomes]
rs28362429	0.86[ASN][1000 genomes]
rs59876692	1.00[EUR][1000 genomes]
rs61684351	1.00[EUR][1000 genomes]
rs6738288	1.00[EUR][1000 genomes]
rs73163017	1.00[EUR][1000 genomes]
rs73917006	1.00[EUR][1000 genomes]

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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10554600-10579200	Weak transcription	NHDF-Ad	bronchial
2	chr2:10567000-10578600	Weak transcription	HSMMtube	muscle
3	chr2:10567200-10579800	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:10568400-10578400	Weak transcription	Liver	Liver
5	chr2:10568600-10579800	Weak transcription	Aorta	Aorta
6	chr2:10568800-10579400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:10568800-10579800	Weak transcription	Left Ventricle	heart
8	chr2:10572800-10578800	Weak transcription	Lung	lung
9	chr2:10572800-10579400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:10572800-10579400	Weak transcription	HSMM	muscle
11	chr2:10572800-10579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:10573000-10578800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:10573000-10578800	Weak transcription	NHLF	lung
14	chr2:10573000-10579000	Weak transcription	Esophagus	oesophagus
15	chr2:10573000-10579000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:10573000-10579000	Weak transcription	NHEK	skin
17	chr2:10573000-10579200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:10573000-10579200	Weak transcription	Ovary	ovary
19	chr2:10573000-10579400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:10573000-10579400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:10573000-10579400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:10573000-10579600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:10573000-10579600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:10573000-10579800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:10573000-10579800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:10573000-10579800	Weak transcription	Right Ventricle	heart
27	chr2:10573000-10580000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
29	chr2:10573200-10579400	Weak transcription	Pancreas	Pancrea
30	chr2:10573400-10578800	Weak transcription	Osteobl	bone
31	chr2:10573400-10579000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:10573400-10579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:10573400-10579000	Weak transcription	Spleen	Spleen
34	chr2:10573400-10579000	Weak transcription	GM12878-XiMat	blood
35	chr2:10573400-10579200	Weak transcription	NH-A	brain
36	chr2:10573400-10579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:10573400-10579400	Weak transcription	HMEC	breast
38	chr2:10573400-10579600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:10573400-10579800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:10573600-10579800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:10573600-10580200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:10573600-10580800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:10573800-10578800	Weak transcription	Gastric	stomach
44	chr2:10573800-10579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:10573800-10579800	Weak transcription	Fetal Kidney	kidney
46	chr2:10573800-10580200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:10574000-10579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:10574000-10579000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:10574400-10578000	Weak transcription	Fetal Brain Female	brain

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