Variant report

Variant	rs2602780
Chromosome Location	chr2:30875745-30875746
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10167083	0.85[EUR][1000 genomes]
rs10183928	0.88[EUR][1000 genomes]
rs10865520	0.88[EUR][1000 genomes]
rs1096109	0.87[EUR][1000 genomes]
rs11127278	0.87[EUR][1000 genomes]
rs12053428	0.87[EUR][1000 genomes]
rs12468064	0.87[EUR][1000 genomes]
rs1252631	0.87[EUR][1000 genomes]
rs1252640	0.87[EUR][1000 genomes]
rs12999917	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13024015	0.96[ASN][1000 genomes]
rs1447186	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1447187	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470533	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470534	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470536	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1525062	0.86[EUR][1000 genomes]
rs1869423	0.94[EUR][1000 genomes]
rs1869424	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1869429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1975555	0.89[EUR][1000 genomes]
rs2121600	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123753	0.87[EUR][1000 genomes]
rs2177698	0.87[EUR][1000 genomes]
rs2266377	0.81[EUR][1000 genomes]
rs2593440	0.91[EUR][1000 genomes]
rs2593442	0.95[EUR][1000 genomes]
rs2593443	0.94[EUR][1000 genomes]
rs2593448	0.94[EUR][1000 genomes]
rs2593452	0.90[EUR][1000 genomes]
rs2593455	0.89[EUR][1000 genomes]
rs2593458	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593459	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593460	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593461	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593466	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593474	0.94[EUR][1000 genomes]
rs2602767	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602782	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602783	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602784	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602785	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602786	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602789	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602790	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602791	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602792	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602798	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2602799	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602806	0.93[EUR][1000 genomes]
rs2602807	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602808	0.94[EUR][1000 genomes]
rs2609917	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2609924	0.94[EUR][1000 genomes]
rs2609925	0.93[EUR][1000 genomes]
rs2609926	0.93[EUR][1000 genomes]
rs2609943	0.94[EUR][1000 genomes]
rs2609945	0.83[EUR][1000 genomes]
rs2609950	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2609952	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609956	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609958	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3862977	0.87[EUR][1000 genomes]
rs62142163	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6731031	0.87[EUR][1000 genomes]
rs6740440	0.86[EUR][1000 genomes]
rs6759011	0.90[EUR][1000 genomes]
rs7566983	0.87[EUR][1000 genomes]
rs7572318	0.88[EUR][1000 genomes]
rs7583211	0.87[EUR][1000 genomes]
rs7591110	0.84[EUR][1000 genomes]
rs7592355	0.85[EUR][1000 genomes]
rs7605994	0.87[EUR][1000 genomes]
rs7606200	0.88[EUR][1000 genomes]
rs829616	0.88[EUR][1000 genomes]
rs829617	0.88[EUR][1000 genomes]
rs829629	0.83[EUR][1000 genomes]
rs829630	0.87[EUR][1000 genomes]
rs829632	0.85[EUR][1000 genomes]
rs829635	0.88[EUR][1000 genomes]
rs829637	0.87[EUR][1000 genomes]
rs829660	0.86[EUR][1000 genomes]
rs829664	0.87[EUR][1000 genomes]
rs895662	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs895665	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30860400-30878200	Weak transcription	NHLF	lung
4	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
5	chr2:30863600-30882200	Weak transcription	Ovary	ovary
6	chr2:30864800-30876600	Weak transcription	Osteobl	bone
7	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:30865200-30878200	Weak transcription	A549	lung
9	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
10	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
13	chr2:30872600-30876400	Weak transcription	NHDF-Ad	bronchial
14	chr2:30872600-30876600	Weak transcription	Right Ventricle	heart
15	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
16	chr2:30873000-30876400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:30873000-30876800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:30873600-30876200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:30874400-30875800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:30874400-30876000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:30874400-30876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30874600-30875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:30874600-30875800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:30874600-30876000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:30874600-30876200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30874800-30875800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:30875000-30875800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:30875200-30876000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:30875200-30876000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:30875400-30875800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:30875600-30875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:30875600-30875800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:30875600-30875800	Enhancers	HUES64 Cell Line	embryonic stem cell

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