Variant report

Variant	rs13422760
Chromosome Location	chr2:58444950-58444951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58444634..58446465-chr2:58458026..58460794,3	MCF-7	breast:
2	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
3	chr2:58442380..58445315-chr2:58458064..58460897,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10184957	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11903212	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12616896	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12624152	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713376	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12988249	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13006005	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13023405	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13032851	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13410228	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1404457	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1404459	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404460	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34335951	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34556232	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35341336	0.84[EUR][1000 genomes]
rs35773188	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35925771	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755296	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3771222	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55809167	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57267169	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61746304	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6709533	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6714952	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6740373	0.85[AFR][1000 genomes]
rs6740836	0.85[AFR][1000 genomes]
rs6742445	0.93[AFR][1000 genomes]
rs6752935	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72948876	0.91[AFR][1000 genomes]
rs7340170	0.90[AFR][1000 genomes]
rs7558066	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7561771	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590976	0.87[AFR][1000 genomes]
rs7597069	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3334075	chr2:58443398-58445446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv3405288	chr2:58443898-58445046	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58391000-58467000	Weak transcription	HMEC	breast
3	chr2:58414000-58461400	Weak transcription	NHEK	skin
4	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:58421600-58452400	Weak transcription	NH-A	brain
7	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
8	chr2:58425600-58446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:58425800-58446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:58432000-58445600	Weak transcription	Osteobl	bone
11	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:58433600-58454200	Weak transcription	Gastric	stomach
13	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:58437800-58456800	Weak transcription	Fetal Kidney	kidney
16	chr2:58438600-58454200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:58438600-58454200	Weak transcription	Aorta	Aorta
18	chr2:58438600-58454200	Weak transcription	Esophagus	oesophagus
19	chr2:58438600-58454200	Weak transcription	Fetal Brain Female	brain
20	chr2:58438600-58454200	Weak transcription	Fetal Stomach	stomach
21	chr2:58438600-58454200	Weak transcription	Lung	lung
22	chr2:58438600-58454200	Weak transcription	Pancreas	Pancrea
23	chr2:58438600-58454200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:58438600-58454200	Weak transcription	Thymus	Thymus
25	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:58438800-58454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:58438800-58454200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:58439000-58446600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:58439200-58454200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:58439200-58454400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:58439200-58457000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:58439200-58457600	Weak transcription	Placenta	Placenta
34	chr2:58439600-58454200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:58439800-58445200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:58439800-58449200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:58440000-58445400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:58440000-58454200	Weak transcription	Primary B cells from cord blood	blood
39	chr2:58440000-58465000	Weak transcription	Fetal Brain Male	brain
40	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:58440600-58446600	Weak transcription	Fetal Thymus	thymus
42	chr2:58440600-58454200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:58440600-58454400	Weak transcription	HSMM	muscle
44	chr2:58440600-58462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:58440800-58449200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:58440800-58449400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:58440800-58450000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:58440800-58450400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:58440800-58453400	Weak transcription	NHDF-Ad	bronchial

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