Variant report

Variant	rs4775993
Chromosome Location	chr15:52298968-52298969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52297353..52299759-chr15:52470363..52472181,2	MCF-7	breast:
2	chr15:52293340..52296170-chr15:52297609..52300846,4	MCF-7	breast:
3	chr15:52261811..52265518-chr15:52298759..52302877,5	MCF-7	breast:
4	chr15:52297339..52299604-chr15:52386543..52389350,2	MCF-7	breast:
5	chr15:52293032..52297316-chr15:52297348..52303144,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242327	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10152141	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10518675	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16964700	0.86[AMR][1000 genomes]
rs2001741	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2017967	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2246726	0.86[ASN][1000 genomes]
rs2414120	0.84[ASN][1000 genomes]
rs2441779	0.86[ASN][1000 genomes]
rs2470593	0.86[ASN][1000 genomes]
rs2470594	0.86[ASN][1000 genomes]
rs2470595	0.88[ASN][1000 genomes]
rs2554340	0.84[ASN][1000 genomes]
rs3099571	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4375608	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4456445	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4774606	0.89[AMR][1000 genomes]
rs4775995	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775996	0.89[AMR][1000 genomes]
rs55714716	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55873482	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56307802	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56677715	0.86[ASN][1000 genomes]
rs58000475	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61546369	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7177328	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7359204	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74013636	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74013638	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74013640	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74013641	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74013642	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74013644	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013645	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013646	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013647	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013648	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013654	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8033365	0.94[AMR][1000 genomes]
rs8036048	0.89[AMR][1000 genomes]
rs8040728	0.86[ASN][1000 genomes]
rs8041281	0.86[ASN][1000 genomes]
rs9796534	0.86[AMR][1000 genomes];0.84[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	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52293000-52303200	Weak transcription	Pancreas	Pancrea
2	chr15:52293400-52303200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:52294800-52300600	Weak transcription	Lung	lung
4	chr15:52295600-52299000	Weak transcription	Fetal Intestine Small	intestine
5	chr15:52295800-52299600	Enhancers	NHEK	skin
6	chr15:52296000-52299400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:52296000-52299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:52296600-52299600	Enhancers	HMEC	breast
9	chr15:52296600-52303400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:52297200-52299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:52297600-52301600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:52297800-52299000	Enhancers	HUVEC	blood vessel
13	chr15:52297800-52299600	Enhancers	Left Ventricle	heart
14	chr15:52297800-52299800	Flanking Active TSS	GM12878-XiMat	blood
15	chr15:52297800-52301400	Enhancers	HepG2	liver
16	chr15:52297800-52301600	Enhancers	Stomach Mucosa	stomach
17	chr15:52297800-52301800	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:52297800-52304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:52298000-52299600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:52298000-52299600	Enhancers	A549	lung
21	chr15:52298200-52299000	Weak transcription	Fetal Heart	heart
22	chr15:52298200-52299200	Weak transcription	Right Ventricle	heart
23	chr15:52298200-52299600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:52298200-52299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:52298200-52299600	Enhancers	Osteobl	bone
26	chr15:52298400-52299600	Enhancers	NH-A	brain
27	chr15:52298400-52299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:52298400-52299800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr15:52298400-52299800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:52298400-52301600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr15:52298400-52302400	Enhancers	K562	blood
32	chr15:52298600-52299200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:52298600-52299400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:52298600-52299400	Enhancers	NHDF-Ad	bronchial
35	chr15:52298600-52299600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:52298600-52299600	Enhancers	HSMMtube	muscle
37	chr15:52298800-52299000	Enhancers	Colonic Mucosa	Colon
38	chr15:52298800-52299000	Enhancers	Psoas Muscle	Psoas
39	chr15:52298800-52299400	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:52298800-52299400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:52298800-52299400	Enhancers	HSMM	muscle
42	chr15:52298800-52299400	Enhancers	NHLF	lung
43	chr15:52298800-52299600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:52298800-52299600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:52298800-52299600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:52298800-52299600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:52298800-52299600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:52298800-52299600	Enhancers	Esophagus	oesophagus
49	chr15:52298800-52299600	Enhancers	Fetal Intestine Large	intestine
50	chr15:52298800-52299600	Enhancers	Right Atrium	heart

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