Variant report

Variant	rs13395391
Chromosome Location	chr2:9919175-9919176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9913973..9917175-chr2:9918406..9921250,3	K562	blood:
2	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
3	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
4	chr2:9913973..9916043-chr2:9918215..9920682,2	K562	blood:
5	chr2:9916943..9919490-chr2:9982481..9984909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12999490	0.90[ASN][1000 genomes]
rs12999528	0.90[ASN][1000 genomes]
rs13005962	0.80[ASN][1000 genomes]
rs13395893	0.84[ASN][1000 genomes]
rs13398884	0.85[ASN][1000 genomes]
rs6432036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432037	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563814	0.90[ASN][1000 genomes]
rs7596268	0.85[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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
2	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
6	chr2:9914800-9920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
9	chr2:9917200-9920000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9917400-9920200	Weak transcription	Right Ventricle	heart
11	chr2:9917600-9919800	Enhancers	Primary T cells from cord blood	blood
12	chr2:9917800-9919400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:9918000-9921000	Enhancers	Fetal Thymus	thymus
15	chr2:9918000-9922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:9918000-9923400	Enhancers	Fetal Intestine Large	intestine
17	chr2:9918000-9923400	Enhancers	Fetal Intestine Small	intestine
18	chr2:9918200-9919400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:9918200-9919400	Enhancers	Esophagus	oesophagus
20	chr2:9918200-9921200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:9918200-9921200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:9918400-9919400	Enhancers	Adipose Nuclei	Adipose
24	chr2:9918400-9920000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:9918400-9922600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:9918600-9919200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:9918600-9920000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:9918600-9920200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:9918600-9923600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:9918800-9919400	Enhancers	Placenta	Placenta
31	chr2:9919000-9920000	Weak transcription	Spleen	Spleen
32	chr2:9919000-9920400	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:9919000-9920600	Enhancers	Dnd41	blood
34	chr2:9919000-9920800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:9919000-9920800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:9919000-9921000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:9919000-9922600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:9919000-9923400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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