Variant report

Variant	rs4668646
Chromosome Location	chr2:9919339-9919340
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	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
3	chr2:9913973..9916043-chr2:9918215..9920682,2	K562	blood:
4	chr2:9916943..9919490-chr2:9982481..9984909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10929615	0.89[ASN][1000 genomes]
rs11674369	0.92[ASN][1000 genomes]
rs13406798	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17363477	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4668645	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4668647	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669457	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669458	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669462	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55917555	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56048558	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72780911	0.94[ASN][1000 genomes]
rs7565749	0.83[AMR][1000 genomes];0.95[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
5	chr2:9914800-9920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
8	chr2:9917200-9920000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:9917400-9920200	Weak transcription	Right Ventricle	heart
10	chr2:9917600-9919800	Enhancers	Primary T cells from cord blood	blood
11	chr2:9917800-9919400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:9918000-9921000	Enhancers	Fetal Thymus	thymus
14	chr2:9918000-9922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:9918000-9923400	Enhancers	Fetal Intestine Large	intestine
16	chr2:9918000-9923400	Enhancers	Fetal Intestine Small	intestine
17	chr2:9918200-9919400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:9918200-9919400	Enhancers	Esophagus	oesophagus
19	chr2:9918200-9921200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:9918200-9921200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:9918400-9919400	Enhancers	Adipose Nuclei	Adipose
23	chr2:9918400-9920000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:9918400-9922600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:9918600-9920000	Enhancers	Fetal Muscle Leg	muscle
26	chr2:9918600-9920200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:9918600-9923600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:9918800-9919400	Enhancers	Placenta	Placenta
29	chr2:9919000-9920000	Weak transcription	Spleen	Spleen
30	chr2:9919000-9920400	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:9919000-9920600	Enhancers	Dnd41	blood
32	chr2:9919000-9920800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:9919000-9920800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:9919000-9921000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:9919000-9922600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:9919000-9923400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:9919200-9920200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:9919200-9920400	Enhancers	Primary B cells from cord blood	blood
39	chr2:9919200-9920400	Enhancers	Thymus	Thymus
40	chr2:9919200-9921000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:9919200-9922200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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