Variant report

Variant	rs13393165
Chromosome Location	chr2:9892170-9892171
allele	C/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: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	chr2:9886336..9889527-chr2:9892124..9895525,3	MCF-7	breast:
2	chr2:9891910..9893733-chr2:9895279..9898420,3	MCF-7	breast:
3	chr2:9881447..9883906-chr2:9890191..9892636,2	MCF-7	breast:
4	chr2:9891163..9893022-chr2:9896031..9898454,2	K562	blood:
5	chr2:9877856..9880099-chr2:9889992..9892399,2	K562	blood:
6	chr2:9772230..9774093-chr2:9892101..9894340,2	MCF-7	breast:
7	chr2:9892015..9895829-chr2:9904744..9907713,4	K562	blood:
8	chr2:9892015..9894940-chr2:9904744..9907619,3	K562	blood:
9	chr2:9769789..9771364-chr2:9892124..9894482,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240960	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10189991	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11889675	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12329266	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12619723	0.84[EUR][1000 genomes]
rs13412895	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867150	0.81[EUR][1000 genomes]
rs16867153	0.82[EUR][1000 genomes]
rs16867155	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4145374	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs55683574	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831980	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67071207	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67169917	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72779090	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9880200-9892800	Weak transcription	Thymus	Thymus
2	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
3	chr2:9884800-9892600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:9885200-9893000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:9885400-9893000	Weak transcription	Left Ventricle	heart
6	chr2:9885600-9892600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:9886200-9892800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:9888600-9893000	Enhancers	GM12878-XiMat	blood
9	chr2:9889200-9892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:9889400-9892600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:9889400-9893200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:9890000-9892600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:9890000-9892600	Weak transcription	HSMM	muscle
15	chr2:9890400-9892600	Weak transcription	HSMMtube	muscle
16	chr2:9890600-9893000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:9890800-9892800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:9890800-9894200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:9891000-9892200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:9891000-9892600	Enhancers	A549	lung
22	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:9891200-9892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:9891400-9892600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:9891400-9892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:9891400-9892800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:9891400-9892800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:9891400-9893000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:9891400-9893000	Enhancers	Esophagus	oesophagus
30	chr2:9891600-9892600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:9891600-9892600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:9891600-9892800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:9891600-9892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:9891600-9893000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:9891600-9893000	Weak transcription	Right Ventricle	heart
36	chr2:9891600-9896800	Weak transcription	Psoas Muscle	Psoas
37	chr2:9891800-9892600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:9891800-9892600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:9891800-9892600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:9891800-9892600	Enhancers	Hela-S3	cervix
41	chr2:9891800-9892600	Weak transcription	NHDF-Ad	bronchial
42	chr2:9891800-9892600	Enhancers	Osteobl	bone
43	chr2:9891800-9892800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:9891800-9892800	Enhancers	NHEK	skin
45	chr2:9891800-9893000	Weak transcription	Fetal Heart	heart
46	chr2:9892000-9892800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:9892000-9892800	Weak transcription	Fetal Thymus	thymus
48	chr2:9892000-9893000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:9892000-9893000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:9892000-9893000	Enhancers	HMEC	breast

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