Variant report

Variant	rs62152788
Chromosome Location	chr2:97470223-97470224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97468183..97470618-chr2:97480529..97483557,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10203346	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10439526	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11889085	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12172	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12846	0.85[EUR][1000 genomes]
rs1320146	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13419073	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17119564	0.81[ASN][1000 genomes]
rs17119598	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276654	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2314399	0.81[ASN][1000 genomes]
rs3731941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077343	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55674661	0.87[EUR][1000 genomes]
rs56797569	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56913233	0.81[ASN][1000 genomes]
rs57582887	0.81[ASN][1000 genomes]
rs58147284	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59244622	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62152765	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152766	0.81[ASN][1000 genomes]
rs62152767	0.81[ASN][1000 genomes]
rs62152768	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152770	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152771	0.86[ASN][1000 genomes]
rs62152772	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62152773	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62152774	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62152775	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62152777	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152780	0.80[ASN][1000 genomes]
rs62152783	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62152785	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152786	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152787	0.90[ASN][1000 genomes]
rs62152790	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152793	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152794	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152795	0.82[EUR][1000 genomes]
rs62152834	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152860	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152863	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62152864	0.81[EUR][1000 genomes]
rs62156208	0.81[ASN][1000 genomes]
rs62156209	0.81[ASN][1000 genomes]
rs62156210	0.81[ASN][1000 genomes]
rs62156211	0.81[ASN][1000 genomes]
rs62156212	0.81[ASN][1000 genomes]
rs62156213	0.81[ASN][1000 genomes]
rs62156216	0.81[ASN][1000 genomes]
rs62156219	0.81[ASN][1000 genomes]
rs62156220	0.81[ASN][1000 genomes]
rs62156221	0.81[ASN][1000 genomes]
rs62156222	0.81[ASN][1000 genomes]
rs62156223	0.81[ASN][1000 genomes]
rs62156225	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156226	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156227	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156228	0.81[ASN][1000 genomes]
rs62156230	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156231	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156232	0.81[ASN][1000 genomes]
rs62156233	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62156234	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6576981	0.81[ASN][1000 genomes]
rs6576986	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576987	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751132	0.81[ASN][1000 genomes]
rs6756482	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72809850	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72811623	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72811627	0.83[AMR][1000 genomes]
rs7568206	0.81[ASN][1000 genomes]
rs7580942	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608621	0.82[EUR][1000 genomes]
rs9973492	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
6	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
7	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
8	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:97464600-97477600	Weak transcription	Osteobl	bone
12	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97465200-97474200	Weak transcription	Aorta	Aorta
14	chr2:97465200-97477200	Weak transcription	NHDF-Ad	bronchial
15	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
17	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:97466200-97472000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:97466800-97470600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:97466800-97474200	Weak transcription	Ovary	ovary
21	chr2:97466800-97474400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:97466800-97475000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:97466800-97476400	Weak transcription	Liver	Liver
24	chr2:97466800-97478000	Weak transcription	NHLF	lung
25	chr2:97466800-97478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:97466800-97480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:97466800-97481000	Weak transcription	HMEC	breast
28	chr2:97467200-97470800	Strong transcription	Fetal Intestine Small	intestine
29	chr2:97467200-97472200	Weak transcription	Thymus	Thymus
30	chr2:97467200-97475000	Weak transcription	Fetal Heart	heart
31	chr2:97467400-97470800	Strong transcription	Fetal Stomach	stomach
32	chr2:97467400-97472200	Weak transcription	Fetal Thymus	thymus
33	chr2:97467600-97474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:97467800-97472000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:97467800-97475000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:97467800-97475400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
39	chr2:97468000-97471800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:97468000-97472000	Weak transcription	Fetal Kidney	kidney
41	chr2:97468000-97473600	Weak transcription	A549	lung
42	chr2:97468000-97473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97468000-97474200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:97468000-97475000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:97468000-97475200	Weak transcription	Stomach Mucosa	stomach
46	chr2:97468000-97475600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:97468000-97476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:97468000-97480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:97468000-97480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell

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