Variant report

Variant	rs56797569
Chromosome Location	chr2:97413555-97413556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97404147..97405869-chr2:97412071..97413973,2	MCF-7	breast:
2	chr2:97302676..97305223-chr2:97412856..97414650,3	MCF-7	breast:
3	chr2:97411512..97416545-chr2:97425151..97429681,7	MCF-7	breast:
4	chr2:97302183..97304867-chr2:97412253..97414857,2	K562	blood:
5	chr2:97413080..97414856-chr2:97424124..97425646,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.98[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	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276654	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2314399	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3731940	0.81[ASN][1000 genomes]
rs3731941	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56913233	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs62152765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152766	1.00[ASN][1000 genomes]
rs62152767	1.00[ASN][1000 genomes]
rs62152768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152770	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152771	0.95[ASN][1000 genomes]
rs62152772	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152773	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62152785	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152786	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152787	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152790	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152793	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152794	0.83[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	1.00[ASN][1000 genomes]
rs62156210	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	1.00[ASN][1000 genomes]
rs62156220	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156228	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156230	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156231	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156232	1.00[ASN][1000 genomes]
rs62156233	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576981	1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	1.00[ASN][1000 genomes]
rs6756482	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6758151	0.98[ASN][1000 genomes]
rs72809850	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	1.00[ASN][1000 genomes]
rs7580942	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs878064	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97406000-97414000	Weak transcription	Spleen	Spleen
2	chr2:97412800-97413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:97412800-97413800	Enhancers	Osteobl	bone
4	chr2:97412800-97414000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:97412800-97414000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:97412800-97414000	Enhancers	Placenta	Placenta
7	chr2:97413000-97413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:97413000-97413800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:97413200-97413600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:97413200-97413800	Enhancers	Adipose Nuclei	Adipose
11	chr2:97413200-97413800	Enhancers	Hela-S3	cervix
12	chr2:97413200-97414200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:97413400-97413600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:97413400-97413800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:97413400-97413800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:97413400-97413800	Enhancers	HSMMtube	muscle
17	chr2:97413400-97414000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:97413400-97414000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:97413400-97414000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:97413400-97414000	Enhancers	Fetal Lung	lung
21	chr2:97413400-97414000	Enhancers	Ovary	ovary
22	chr2:97413400-97414000	Enhancers	NHDF-Ad	bronchial
23	chr2:97413400-97414200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:97413400-97414400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:97413400-97414400	Enhancers	K562	blood
26	chr2:97413400-97415200	Enhancers	HepG2	liver

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