Variant report

Variant	rs62156230
Chromosome Location	chr2:97424915-97424916
allele	A/G
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	HMGN3	chr2:97424909-97425154	K562	blood:	n/a	chr2:97425138-97425147
2	ELF1	chr2:97424763-97425087	K562	blood:	n/a	chr2:97424916-97424929

No.	Distal block	Cell Line	Cell type
1	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
2	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
3	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
4	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:
5	chr2:97413080..97414856-chr2:97424124..97425646,2	K562	blood:

Variant related genes	Relation type
CNNM4	TF binding region
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	0.95[ASN][1000 genomes]
rs17119564	1.00[ASN][1000 genomes]
rs17119591	0.98[ASN][1000 genomes]
rs17119598	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276654	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2314399	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3731940	0.81[ASN][1000 genomes]
rs3731941	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56797569	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56913233	1.00[ASN][1000 genomes]
rs57582887	1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs62152765	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152766	1.00[ASN][1000 genomes]
rs62152767	1.00[ASN][1000 genomes]
rs62152768	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152770	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152771	0.95[ASN][1000 genomes]
rs62152772	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152773	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152774	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152783	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62152785	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152786	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152787	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152790	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152793	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152794	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156208	1.00[ASN][1000 genomes]
rs62156209	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	1.00[ASN][1000 genomes]
rs62156211	1.00[ASN][1000 genomes]
rs62156212	1.00[ASN][1000 genomes]
rs62156213	1.00[ASN][1000 genomes]
rs62156216	1.00[ASN][1000 genomes]
rs62156219	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	1.00[ASN][1000 genomes]
rs62156221	1.00[ASN][1000 genomes]
rs62156222	1.00[ASN][1000 genomes]
rs62156223	1.00[ASN][1000 genomes]
rs62156225	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156226	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156227	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156228	1.00[ASN][1000 genomes]
rs62156229	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156231	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156232	1.00[ASN][1000 genomes]
rs62156233	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156234	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576981	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6758151	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs878064	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973492	0.83[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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97417600-97425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97420000-97425400	Weak transcription	Pancreas	Pancrea
3	chr2:97420400-97425200	Weak transcription	Placenta	Placenta
4	chr2:97420600-97425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:97420600-97426000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:97420600-97426000	Weak transcription	Osteobl	bone
7	chr2:97422800-97425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:97423200-97426000	Enhancers	Fetal Intestine Small	intestine
9	chr2:97423600-97425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:97423600-97426000	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:97423600-97426000	Enhancers	Fetal Intestine Large	intestine
12	chr2:97423800-97426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:97424000-97425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:97424000-97425400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:97424200-97425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:97424200-97425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:97424200-97425400	Weak transcription	Thymus	Thymus
18	chr2:97424200-97425400	Weak transcription	NHEK	skin
19	chr2:97424200-97425800	Weak transcription	HMEC	breast
20	chr2:97424200-97426000	Weak transcription	Liver	Liver
21	chr2:97424400-97425600	Weak transcription	Fetal Kidney	kidney
22	chr2:97424400-97425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:97424600-97425200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:97424600-97426000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:97424600-97426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:97424600-97426000	Enhancers	Stomach Mucosa	stomach
27	chr2:97424800-97425000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:97424800-97425000	Bivalent Enhancer	HepG2	liver
29	chr2:97424800-97425200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:97424800-97425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:97424800-97425800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:97424800-97425800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:97424800-97425800	Enhancers	A549	lung
34	chr2:97424800-97426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:97424800-97426000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:97424800-97426000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:97424800-97426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:97424800-97426000	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:97424800-97426000	Enhancers	GM12878-XiMat	blood
40	chr2:97424800-97426000	Enhancers	K562	blood
41	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus

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