Variant report

Variant	rs4774636
Chromosome Location	chr15:52968193-52968194
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52966230..52968677-chr15:52969167..52971307,2	K562	blood:
2	chr15:52856629..52859409-chr15:52967140..52969725,2	K562	blood:
3	chr15:52965949..52968646-chr15:53025332..53028243,3	MCF-7	breast:
4	chr15:52966586..52968208-chr15:53018199..53019999,2	MCF-7	breast:
5	chr15:52580574..52582076-chr15:52967362..52969063,2	MCF-7	breast:
6	chr15:52967401..52973659-chr15:53000765..53004676,11	MCF-7	breast:
7	chr15:52855349..52864927-chr15:52966670..52972620,15	MCF-7	breast:
8	chr15:52942408..52952117-chr15:52965431..52973600,32	MCF-7	breast:
9	chr15:52586406..52588610-chr15:52967332..52968864,2	MCF-7	breast:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10851521	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070907	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070908	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11070909	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11853917	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11857150	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11858743	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12898644	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12914047	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12914502	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12915981	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863512	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2414163	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2414166	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34431049	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751614	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776065	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776066	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776068	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62023352	0.84[ASN][1000 genomes]
rs8026800	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs933860	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

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	chr15:52945000-52968600	Weak transcription	HepG2	liver
5	chr15:52946000-52968200	Weak transcription	Fetal Heart	heart
6	chr15:52946000-52968600	Weak transcription	Stomach Mucosa	stomach
7	chr15:52950400-52969400	Weak transcription	A549	lung
8	chr15:52950800-52968400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:52951000-52970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:52957400-52970000	Weak transcription	Colonic Mucosa	Colon
11	chr15:52957400-52970000	Weak transcription	Lung	lung
12	chr15:52960000-52969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:52960400-52969600	Weak transcription	HMEC	breast
14	chr15:52960600-52969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:52960600-52969400	Weak transcription	NHEK	skin
16	chr15:52960600-52970000	Weak transcription	Small Intestine	intestine
17	chr15:52961600-52969000	Strong transcription	Osteobl	bone
18	chr15:52962200-52969800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:52962400-52969400	Weak transcription	Fetal Stomach	stomach
20	chr15:52962600-52968600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:52962600-52969800	Weak transcription	Right Ventricle	heart
22	chr15:52962600-52970200	Weak transcription	Gastric	stomach
23	chr15:52962600-52970400	Weak transcription	Spleen	Spleen
24	chr15:52962800-52969400	Weak transcription	Aorta	Aorta
25	chr15:52963000-52969600	Weak transcription	NHLF	lung
26	chr15:52963000-52970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:52963600-52968800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:52964000-52969000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:52964200-52968600	Weak transcription	Fetal Kidney	kidney
30	chr15:52964600-52969400	Weak transcription	Thymus	Thymus
31	chr15:52964600-52969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:52964600-52970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:52965000-52968800	Genic enhancers	Primary B cells from cord blood	blood
34	chr15:52965000-52969000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:52965000-52969800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:52965200-52969000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr15:52965400-52969600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:52965400-52969800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr15:52965600-52968400	Genic enhancers	Adipose Nuclei	Adipose
40	chr15:52965800-52968400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:52965800-52969000	Weak transcription	Fetal Brain Female	brain
42	chr15:52965800-52969600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:52965800-52969600	Weak transcription	HSMMtube	muscle
44	chr15:52966000-52969600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:52966200-52968400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:52966200-52968600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:52966200-52968800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:52966200-52968800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:52966200-52969400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:52966200-52969400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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