Variant report

Variant	rs4669455
Chromosome Location	chr2:9918258-9918259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9769198..9773144-chr2:9916945..9918889,4	MCF-7	breast:
2	chr2:9917818..9918713-chr2:10188605..10189449,3	MCF-7	breast:
3	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
4	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
5	chr2:9913973..9916043-chr2:9918215..9920682,2	K562	blood:
6	chr2:9904685..9905408-chr2:9918226..9918742,2	K562	blood:
7	chr2:9916943..9919490-chr2:9982481..9984909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10186112	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10929614	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11674480	0.90[ASN][1000 genomes]
rs11887400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896311	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12988235	0.90[ASN][1000 genomes]
rs1515326	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357266	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357267	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4669456	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669460	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669461	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432035	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712066	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7599932	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7605035	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
2	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
8	chr2:9914800-9919000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:9914800-9920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:9915000-9918400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
13	chr2:9917200-9920000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:9917400-9918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:9917400-9919000	Enhancers	Spleen	Spleen
16	chr2:9917400-9920200	Weak transcription	Right Ventricle	heart
17	chr2:9917600-9919800	Enhancers	Primary T cells from cord blood	blood
18	chr2:9917800-9918600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:9917800-9919400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:9918000-9918400	Enhancers	Colonic Mucosa	Colon
22	chr2:9918000-9918400	Enhancers	Pancreas	Pancrea
23	chr2:9918000-9921000	Enhancers	Fetal Thymus	thymus
24	chr2:9918000-9922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:9918000-9923400	Enhancers	Fetal Intestine Large	intestine
26	chr2:9918000-9923400	Enhancers	Fetal Intestine Small	intestine
27	chr2:9918200-9918400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:9918200-9918600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:9918200-9918600	Enhancers	Gastric	stomach
30	chr2:9918200-9918600	Bivalent Enhancer	HepG2	liver
31	chr2:9918200-9919400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:9918200-9919400	Enhancers	Esophagus	oesophagus
33	chr2:9918200-9921200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:9918200-9921200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood

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