Variant report

Variant	rs919878
Chromosome Location	chr2:47291184-47291185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:47287939-47291917	SK-N-SH	brain:	n/a	chr2:47289917-47289932 chr2:47289915-47289930
2	EP300	chr2:47287499-47292041	SK-N-SH	brain:	n/a	chr2:47288383-47288392 chr2:47290945-47290958 chr2:47289594-47289604
3	POLR2A	chr2:47291050-47291196	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47271461..47273944-chr2:47289960..47292872,2	K562	blood:
2	chr2:47288795..47291567-chr2:47291902..47294947,3	K562	blood:
3	chr2:47283603..47286484-chr2:47288928..47291971,4	K562	blood:

Variant related genes	Relation type
ENSG00000225187	TF binding region
ENSG00000068724	Chromatin interaction

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

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

rs_ID	r²[population]
rs10174635	0.91[AMR][1000 genomes]
rs10191558	0.91[AMR][1000 genomes]
rs13411522	1.00[MEX][hapmap]
rs17036191	0.90[ASW][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28556964	1.00[MEX][hapmap]
rs28708409	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60472761	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61089798	0.84[AMR][1000 genomes]
rs6708855	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6733891	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6749079	0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs919879	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs924229	1.00[MEX][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47272200-47292000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47274800-47292800	Weak transcription	Hela-S3	cervix
6	chr2:47282000-47293400	Enhancers	Brain Substantia Nigra	brain
7	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:47284600-47296000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
11	chr2:47284800-47292600	Weak transcription	Small Intestine	intestine
12	chr2:47285000-47292800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:47285000-47295000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:47285000-47295200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:47285000-47295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:47285200-47295800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:47285400-47292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:47285400-47292600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:47285600-47291600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:47285600-47292400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:47285800-47291800	Weak transcription	Fetal Kidney	kidney
22	chr2:47285800-47292600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:47286000-47292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:47286000-47292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:47286400-47292000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:47286400-47295400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:47286600-47292000	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr2:47286600-47295000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:47286800-47292600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:47286800-47296000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:47286800-47296600	Strong transcription	Fetal Thymus	thymus
32	chr2:47287400-47292000	Strong transcription	GM12878-XiMat	blood
33	chr2:47287400-47296200	Strong transcription	Primary B cells from cord blood	blood
34	chr2:47287600-47291600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:47287600-47291800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:47287600-47291800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:47287600-47292200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:47287600-47292200	Genic enhancers	Adipose Nuclei	Adipose
39	chr2:47287600-47293400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:47287800-47292000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:47287800-47292000	Strong transcription	Esophagus	oesophagus
42	chr2:47287800-47292200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:47287800-47292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:47287800-47292800	Genic enhancers	NHDF-Ad	bronchial
45	chr2:47287800-47294600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:47287800-47296600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:47288000-47291200	Genic enhancers	Fetal Stomach	stomach
48	chr2:47288000-47291400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:47288000-47291800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:47288000-47293800	Enhancers	Stomach Mucosa	stomach

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