Variant report

Variant	rs10196589
Chromosome Location	chr2:72468974-72468975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72467801..72470098-chr2:72472810..72475192,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1000523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1003672	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168145	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs10175915	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10178138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10178847	0.92[ASN][1000 genomes]
rs10181899	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10190799	0.86[ASN][1000 genomes]
rs10193543	0.92[ASN][1000 genomes]
rs10205108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207299	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs10209861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10221767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10221769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865390	0.85[ASN][1000 genomes]
rs11126362	0.93[ASN][1000 genomes]
rs11126363	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1159763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681809	0.85[ASN][1000 genomes]
rs11690734	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs11694921	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs11902025	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs12151496	0.82[AMR][1000 genomes]
rs12466026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12466112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12466613	0.82[CEU][hapmap]
rs13382986	0.92[ASN][1000 genomes]
rs13387630	0.92[ASN][1000 genomes]
rs13389524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13391463	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs13392314	0.92[ASN][1000 genomes]
rs13395204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13404369	0.85[ASN][1000 genomes]
rs13416674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13417114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13418637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13430254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13430651	0.92[ASN][1000 genomes]
rs13432350	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs17673916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17724205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17724860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17725024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1860852	0.86[ASN][1000 genomes]
rs194235	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs194236	0.81[ASN][1000 genomes]
rs194237	0.85[ASN][1000 genomes]
rs194238	0.85[ASN][1000 genomes]
rs194240	0.81[ASN][1000 genomes]
rs194241	0.85[ASN][1000 genomes]
rs194242	0.93[ASN][1000 genomes]
rs194243	0.93[ASN][1000 genomes]
rs2041563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2041564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2080044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2109961	0.85[EUR][1000 genomes]
rs2109963	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2159823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2420442	0.88[EUR][1000 genomes]
rs28278	0.93[ASN][1000 genomes]
rs2901144	0.88[EUR][1000 genomes]
rs34837782	0.86[ASN][1000 genomes]
rs41386	1.00[CHB][hapmap]
rs41387	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs41388	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41389	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41390	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41391	0.93[ASN][1000 genomes]
rs41392	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41393	0.93[ASN][1000 genomes]
rs41394	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41395	0.86[ASN][1000 genomes]
rs41396	1.00[CHB][hapmap]
rs41397	0.86[ASN][1000 genomes]
rs41398	0.93[ASN][1000 genomes]
rs41399	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs41400	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41401	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41402	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41403	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41405	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41406	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41407	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs41408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs41410	0.81[ASN][1000 genomes]
rs41411	0.81[ASN][1000 genomes]
rs41412	0.86[ASN][1000 genomes]
rs41413	0.81[ASN][1000 genomes]
rs41414	0.86[ASN][1000 genomes]
rs41418	0.86[ASN][1000 genomes]
rs41419	0.86[ASN][1000 genomes]
rs4852285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4852287	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs4852288	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs4852859	0.92[ASN][1000 genomes]
rs4852860	0.85[ASN][1000 genomes]
rs4852861	0.93[ASN][1000 genomes]
rs4852862	0.85[ASN][1000 genomes]
rs55764675	0.92[ASN][1000 genomes]
rs55877105	0.93[ASN][1000 genomes]
rs55970539	0.92[ASN][1000 genomes]
rs56299443	0.92[ASN][1000 genomes]
rs62147573	0.92[ASN][1000 genomes]
rs62147579	0.93[ASN][1000 genomes]
rs62147589	0.92[ASN][1000 genomes]
rs62147626	0.92[ASN][1000 genomes]
rs62147629	0.92[ASN][1000 genomes]
rs62147636	0.92[ASN][1000 genomes]
rs6546750	0.81[ASN][1000 genomes]
rs6546752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6546755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6546756	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs6709109	0.83[EUR][1000 genomes]
rs6709233	0.90[YRI][hapmap]
rs6709493	0.87[YRI][hapmap]
rs6719255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6722637	0.83[EUR][1000 genomes]
rs6729219	0.87[YRI][hapmap]
rs6729863	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs6733210	0.82[CEU][hapmap]
rs6742264	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs6748607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6751276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6753073	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs6758462	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs6760895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs719118	0.85[EUR][1000 genomes]
rs7559131	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7565358	0.90[YRI][hapmap]
rs7565922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7577354	0.83[YRI][hapmap]
rs7583271	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7592404	0.83[YRI][hapmap]
rs768042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs768043	0.93[ASN][1000 genomes]
rs9309463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679148	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72465800-72490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72468200-72469200	Enhancers	A549	lung
3	chr2:72468200-72469400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:72468400-72469200	Active TSS	Osteobl	bone
5	chr2:72468400-72469400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:72468400-72469400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:72468400-72469400	Active TSS	Adipose Nuclei	Adipose
8	chr2:72468600-72469000	Flanking Active TSS	Dnd41	blood
9	chr2:72468600-72469000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:72468600-72469200	Active TSS	Liver	Liver
11	chr2:72468600-72469200	Active TSS	Brain Hippocampus Middle	brain
12	chr2:72468600-72469200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:72468600-72469400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:72468600-72469400	Active TSS	Right Atrium	heart
15	chr2:72468800-72469000	Active TSS	Primary hematopoietic stem cells	blood
16	chr2:72468800-72469000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:72468800-72469200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:72468800-72469200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr2:72468800-72469400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:72468800-72469400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:72468800-72469400	Active TSS	NHDF-Ad	bronchial
22	chr2:72468800-72469400	Active TSS	NHLF	lung

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