Variant report

Variant	rs2115601
Chromosome Location	chr2:100403354-100403355
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	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:
2	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10175788	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10182690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191077	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10191816	0.89[ASN][1000 genomes]
rs10194527	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10198310	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10199548	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10199818	0.91[ASN][1000 genomes]
rs10865033	0.81[EUR][1000 genomes]
rs10865034	0.81[EUR][1000 genomes]
rs11123793	0.87[ASN][1000 genomes]
rs11123794	0.89[ASN][1000 genomes]
rs11123795	0.89[ASN][1000 genomes]
rs11682978	0.89[ASN][1000 genomes]
rs11690403	0.89[ASN][1000 genomes]
rs11888741	0.91[ASN][1000 genomes]
rs12478013	0.81[EUR][1000 genomes]
rs12712059	0.89[ASN][1000 genomes]
rs13010551	0.91[ASN][1000 genomes]
rs13030932	0.87[ASN][1000 genomes]
rs13407928	0.87[ASN][1000 genomes]
rs13428668	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1344701	0.81[EUR][1000 genomes]
rs1344702	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1366761	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1366766	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1404175	0.89[ASN][1000 genomes]
rs1404176	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1404177	0.89[ASN][1000 genomes]
rs1429268	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1429269	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1464757	0.87[ASN][1000 genomes]
rs1608640	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2030690	0.90[ASN][1000 genomes]
rs2091150	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2163044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309690	0.91[ASN][1000 genomes]
rs2871316	0.81[ASN][1000 genomes]
rs34116173	0.87[ASN][1000 genomes]
rs34369751	0.87[ASN][1000 genomes]
rs3863005	0.89[ASN][1000 genomes]
rs3863006	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3915083	0.89[ASN][1000 genomes]
rs4286327	0.81[EUR][1000 genomes]
rs4332968	0.84[ASN][1000 genomes]
rs4481043	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4521099	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4850914	0.86[ASN][1000 genomes]
rs4850916	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4851225	0.91[ASN][1000 genomes]
rs4851226	0.91[ASN][1000 genomes]
rs4851228	0.89[ASN][1000 genomes]
rs4851229	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851230	0.89[ASN][1000 genomes]
rs4851232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851234	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851235	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56118689	0.98[AFR][1000 genomes]
rs6542890	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542891	0.91[ASN][1000 genomes]
rs6542900	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6542901	0.80[EUR][1000 genomes]
rs6542902	0.81[EUR][1000 genomes]
rs6705966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721652	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723474	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6725716	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6732358	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739478	0.89[ASN][1000 genomes]
rs6739601	0.91[ASN][1000 genomes]
rs6741990	0.89[ASN][1000 genomes]
rs6743473	0.81[EUR][1000 genomes]
rs6744510	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6746146	0.84[ASN][1000 genomes]
rs6747845	0.81[EUR][1000 genomes]
rs6748557	0.84[ASN][1000 genomes]
rs6756009	0.89[ASN][1000 genomes]
rs6756821	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6757262	0.89[ASN][1000 genomes]
rs6758027	0.89[ASN][1000 genomes]
rs73964314	0.95[AFR][1000 genomes]
rs73964317	0.93[AFR][1000 genomes]
rs7559975	0.89[ASN][1000 genomes]
rs7560078	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7565155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566083	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7573572	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582469	0.89[ASN][1000 genomes]
rs7584365	0.87[ASN][1000 genomes]
rs7586604	0.81[EUR][1000 genomes]
rs7589376	0.91[ASN][1000 genomes]
rs7596023	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7604536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868665	0.81[ASN][1000 genomes]
rs9308829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs940458	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100393800-100404000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100394400-100405800	Weak transcription	Lung	lung
4	chr2:100395000-100403600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100396200-100407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:100396200-100409200	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100397400-100409800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:100397800-100411400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:100399000-100406000	Weak transcription	Spleen	Spleen
10	chr2:100399400-100412800	Weak transcription	Dnd41	blood
11	chr2:100399600-100406600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:100401200-100403800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:100401600-100403800	Weak transcription	Placenta	Placenta
14	chr2:100401600-100406600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:100402000-100407200	Weak transcription	Liver	Liver
16	chr2:100402200-100405600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:100402400-100405000	Enhancers	Fetal Brain Male	brain
18	chr2:100402400-100405600	Enhancers	Fetal Lung	lung
19	chr2:100402800-100404000	Enhancers	Fetal Stomach	stomach
20	chr2:100403000-100403800	Enhancers	Fetal Brain Female	brain
21	chr2:100403000-100403800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:100403000-100404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100403200-100403800	Enhancers	Brain Hippocampus Middle	brain
24	chr2:100403200-100404000	Enhancers	Brain Germinal Matrix	brain

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