Variant report

Variant	rs13395263
Chromosome Location	chr2:47271810-47271811
allele	A/T
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	JUND	chr2:47269513-47272266	SK-N-SH	brain:	n/a	chr2:47270928-47270935 chr2:47270104-47270115 chr2:47271077-47271086
2	EP300	chr2:47267459-47271977	SK-N-SH	brain:	n/a	chr2:47271431-47271438
3	POLR2A	chr2:47271668-47271865	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47265695..47269045-chr2:47269203..47272873,4	K562	blood:
2	chr2:47265110..47267582-chr2:47269199..47272729,4	MCF-7	breast:
3	chr2:47271650..47273427-chr2:47295265..47298001,2	MCF-7	breast:
4	chr2:47269231..47272270-chr2:47291974..47297806,6	MCF-7	breast:
5	chr2:47269944..47272346-chr2:47548303..47550473,2	MCF-7	breast:
6	chr2:47270183..47272803-chr2:47401195..47403585,3	K562	blood:
7	chr2:47266042..47270456-chr2:47271373..47275642,6	K562	blood:
8	chr2:47271284..47272803-chr2:47401195..47403067,2	K562	blood:
9	chr2:47179225..47182053-chr2:47271566..47273267,2	K562	blood:

Variant related genes	Relation type
ENSG00000233845	TF binding region
TTC7A	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000233845	Chromatin interaction
ENSG00000225187	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13423726	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs13427658	0.95[YRI][hapmap];1.00[AFR][1000 genomes]
rs60101351	1.00[AMR][1000 genomes]
rs6757522	1.00[AMR][1000 genomes]
rs6759105	1.00[AMR][1000 genomes]
rs72884790	1.00[AMR][1000 genomes]
rs72884794	1.00[AMR][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	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	nsv528091	chr2:47249239-47273732	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:47246000-47283800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:47246800-47281600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:47252000-47283400	Strong transcription	Thymus	Thymus
7	chr2:47255600-47273400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:47257000-47277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:47258400-47282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:47261800-47273600	Weak transcription	Fetal Brain Female	brain
12	chr2:47262000-47283400	Weak transcription	Fetal Brain Male	brain
13	chr2:47262000-47283600	Weak transcription	Small Intestine	intestine
14	chr2:47263000-47283200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:47263400-47283200	Weak transcription	Fetal Kidney	kidney
16	chr2:47265000-47273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:47265000-47273400	Weak transcription	K562	blood
18	chr2:47266200-47280800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:47266400-47280200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:47266400-47283000	Strong transcription	Primary T cells from cord blood	blood
21	chr2:47266600-47272400	Enhancers	Brain Substantia Nigra	brain
22	chr2:47266600-47272800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:47266600-47282600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:47266800-47272600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:47266800-47282800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:47267200-47272200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:47267200-47281400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:47267200-47282800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:47267400-47273200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:47267400-47282600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:47267800-47272600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:47268200-47272000	Weak transcription	Gastric	stomach
33	chr2:47268200-47273000	Enhancers	Brain Anterior Caudate	brain
34	chr2:47268600-47273000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:47268600-47274000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:47268600-47282000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:47269400-47272000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:47270000-47282800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:47270000-47282800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:47270200-47280200	Strong transcription	GM12878-XiMat	blood
41	chr2:47270400-47272400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:47270400-47272800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:47270400-47282200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:47270400-47282400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:47270400-47282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:47270600-47273200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:47270600-47275800	Strong transcription	Fetal Intestine Large	intestine
48	chr2:47270600-47278800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:47270800-47272000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:47270800-47272000	Enhancers	HUVEC	blood vessel

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