Variant report

Variant	rs1991300
Chromosome Location	chr15:52968746-52968747
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52856629..52859409-chr15:52967140..52969725,2	K562	blood:
2	chr15:52859855..52863944-chr15:52968349..52971887,6	MCF-7	breast:
3	chr15:52580574..52582076-chr15:52967362..52969063,2	MCF-7	breast:
4	chr15:52967401..52973659-chr15:53000765..53004676,11	MCF-7	breast:
5	chr15:52968259..52973250-chr15:52997483..53005703,18	MCF-7	breast:
6	chr15:52855349..52864927-chr15:52966670..52972620,15	MCF-7	breast:
7	chr15:52942408..52952117-chr15:52965431..52973600,32	MCF-7	breast:
8	chr15:52586406..52588610-chr15:52967332..52968864,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction
ENSG00000128833	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10851522	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11630559	0.94[CHB][hapmap];0.90[CHD][hapmap]
rs12438599	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12595161	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17651917	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73396772	0.90[ASN][1000 genomes]
rs73398904	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026277	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv457140	chr15:52901433-52968746	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3412645	chr15:52968539-52968762	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52944400-52969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:52944400-52970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:52944600-52969800	Weak transcription	Fetal Brain Male	brain
4	chr15:52950400-52969400	Weak transcription	A549	lung
5	chr15:52951000-52970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:52957400-52970000	Weak transcription	Colonic Mucosa	Colon
7	chr15:52957400-52970000	Weak transcription	Lung	lung
8	chr15:52960000-52969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:52960400-52969600	Weak transcription	HMEC	breast
10	chr15:52960600-52969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:52960600-52969400	Weak transcription	NHEK	skin
12	chr15:52960600-52970000	Weak transcription	Small Intestine	intestine
13	chr15:52961600-52969000	Strong transcription	Osteobl	bone
14	chr15:52962200-52969800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:52962400-52969400	Weak transcription	Fetal Stomach	stomach
16	chr15:52962600-52969800	Weak transcription	Right Ventricle	heart
17	chr15:52962600-52970200	Weak transcription	Gastric	stomach
18	chr15:52962600-52970400	Weak transcription	Spleen	Spleen
19	chr15:52962800-52969400	Weak transcription	Aorta	Aorta
20	chr15:52963000-52969600	Weak transcription	NHLF	lung
21	chr15:52963000-52970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:52963600-52968800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:52964000-52969000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:52964600-52969400	Weak transcription	Thymus	Thymus
25	chr15:52964600-52969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:52964600-52970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:52965000-52968800	Genic enhancers	Primary B cells from cord blood	blood
28	chr15:52965000-52969000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr15:52965000-52969800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:52965200-52969000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:52965400-52969600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:52965400-52969800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr15:52965800-52969000	Weak transcription	Fetal Brain Female	brain
34	chr15:52965800-52969600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:52965800-52969600	Weak transcription	HSMMtube	muscle
36	chr15:52966000-52969600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:52966200-52968800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:52966200-52968800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:52966200-52969400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:52966200-52969400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:52966200-52969600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr15:52966400-52969600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:52966400-52969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:52966600-52969000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:52966600-52969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:52966600-52969000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:52966600-52969400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:52966800-52968800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:52967200-52968800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr15:52967200-52969000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links