Variant report

Variant	rs2593448
Chromosome Location	chr2:30828334-30828335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10167083	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183928	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096109	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252631	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1447186	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1662946	0.89[AMR][1000 genomes]
rs1869423	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869424	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.85[EUR][1000 genomes]
rs2593440	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593442	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.93[EUR][1000 genomes]
rs2593460	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602767	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.94[EUR][1000 genomes]
rs2602782	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602798	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602799	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.92[EUR][1000 genomes]
rs2609952	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731031	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566983	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829564	0.89[AMR][1000 genomes]
rs829565	0.89[AMR][1000 genomes]
rs829581	0.89[AMR][1000 genomes]
rs829616	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829629	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829632	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829635	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829660	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829664	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829684	0.89[AMR][1000 genomes]
rs895662	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:30807400-30831200	Weak transcription	K562	blood
6	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
8	chr2:30811600-30863000	Weak transcription	Ovary	ovary
9	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:30813200-30832800	Weak transcription	Fetal Heart	heart
11	chr2:30815000-30834400	Weak transcription	Fetal Lung	lung
12	chr2:30818400-30831600	Weak transcription	A549	lung
13	chr2:30818800-30835000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:30819000-30831400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:30823000-30835400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:30823400-30834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:30823600-30834200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:30823600-30834400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:30824000-30835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:30824400-30828600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:30824400-30831600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
23	chr2:30826400-30828600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:30826400-30829000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:30826400-30835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:30827000-30828800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:30827000-30828800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:30827000-30829000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:30827200-30828800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:30827600-30828400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:30827800-30828400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:30827800-30828800	Strong transcription	Primary T cells from cord blood	blood
33	chr2:30828000-30828400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:30828000-30828400	Enhancers	Fetal Kidney	kidney
35	chr2:30828000-30831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:30828000-30834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:30828000-30834200	Weak transcription	Left Ventricle	heart
38	chr2:30828200-30828400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:30828200-30828800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:30828200-30828800	Enhancers	Brain Germinal Matrix	brain
41	chr2:30828200-30828800	Enhancers	Fetal Brain Female	brain
42	chr2:30828200-30834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:30828200-30834800	Weak transcription	HepG2	liver

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