Variant report

Variant	rs13395893
Chromosome Location	chr2:9913515-9913516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9910788..9914069-chr2:9915018..9918206,3	K562	blood:
2	chr2:9911818..9914700-chr2:9914893..9917161,2	K562	blood:
3	chr2:9912711..9914278-chr2:9916005..9917523,2	MCF-7	breast:
4	chr2:9908744..9910867-chr2:9911219..9913679,2	K562	blood:
5	chr2:9910757..9913567-chr2:10174591..10176436,2	K562	blood:
6	chr2:9769810..9772214-chr2:9912992..9915030,2	K562	blood:

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10171594	0.94[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs13395391	0.84[ASN][1000 genomes]
rs13405075	0.87[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6432036	0.84[ASN][1000 genomes]
rs6432037	0.84[ASN][1000 genomes]
rs6749953	0.84[ASN][1000 genomes]
rs7596268	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13395893	RP11-521D12.5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9907600-9913600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:9908000-9915200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:9908200-9913600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
5	chr2:9909600-9915000	Enhancers	Fetal Lung	lung
6	chr2:9909800-9914400	Enhancers	HSMMtube	muscle
7	chr2:9909800-9914800	Enhancers	Placenta	Placenta
8	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:9910800-9915000	Enhancers	Left Ventricle	heart
10	chr2:9911000-9914000	Weak transcription	Fetal Kidney	kidney
11	chr2:9911000-9915000	Weak transcription	Lung	lung
12	chr2:9911000-9918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:9911200-9913600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:9911200-9914800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:9911200-9914800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:9911200-9918200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:9912000-9913600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:9912000-9918000	Weak transcription	Fetal Thymus	thymus
22	chr2:9912200-9914400	Weak transcription	Stomach Mucosa	stomach
23	chr2:9912200-9917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:9912400-9913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:9912400-9913600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:9912400-9914000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:9912400-9914800	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:9912400-9918200	Weak transcription	Esophagus	oesophagus
29	chr2:9912400-9918200	Weak transcription	Gastric	stomach
30	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
32	chr2:9912600-9913800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:9912600-9914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:9912600-9914000	Weak transcription	Osteobl	bone
35	chr2:9912600-9914200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:9912800-9914800	Bivalent Enhancer	Fetal Stomach	stomach
37	chr2:9913000-9913800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:9913000-9914200	Enhancers	K562	blood
39	chr2:9913000-9914400	Weak transcription	Colonic Mucosa	Colon
40	chr2:9913200-9913600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:9913200-9913800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:9913200-9914400	Bivalent Enhancer	HepG2	liver
43	chr2:9913200-9915000	Enhancers	NHDF-Ad	bronchial
44	chr2:9913200-9915400	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:9913400-9913600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:9913400-9913600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:9913400-9913600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:9913400-9913600	Bivalent Enhancer	NHEK	skin
49	chr2:9913400-9914200	Enhancers	Right Ventricle	heart
50	chr2:9913400-9914400	Enhancers	HSMM	muscle

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