Variant report

Variant	rs7560078
Chromosome Location	chr2:100443883-100443884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100438595..100441140-chr2:100442686..100444862,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10175788	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10182690	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10191077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10198310	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199548	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10204617	0.87[ASN][1000 genomes]
rs10496340	0.87[ASN][1000 genomes]
rs10865032	0.86[ASN][1000 genomes]
rs10865033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865034	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11123796	0.87[ASN][1000 genomes]
rs11123801	0.82[EUR][1000 genomes]
rs12478013	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12712060	0.97[ASN][1000 genomes]
rs13416974	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13423929	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13428668	0.84[AMR][1000 genomes]
rs1344701	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1344702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346621	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1366761	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1366763	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1366766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1429268	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1568786	0.84[ASN][1000 genomes]
rs1594111	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1594113	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1608640	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2043006	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2115600	0.87[ASN][1000 genomes]
rs2115601	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2163044	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2309650	0.87[ASN][1000 genomes]
rs2871310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4286327	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4481043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4521099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4850916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4851229	0.84[AMR][1000 genomes]
rs4851231	0.85[ASN][1000 genomes]
rs4851232	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4851234	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4851235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147565	0.87[ASN][1000 genomes]
rs6542890	0.84[AMR][1000 genomes]
rs6542900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542901	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542902	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542903	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6705966	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6721652	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6723474	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6725716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732358	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6743473	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756821	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7562121	0.83[ASN][1000 genomes]
rs7565155	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7566083	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573572	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7586604	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604536	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9308829	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9967704	0.87[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	nsv2845	chr2:100421826-100466558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100423600-100454600	Weak transcription	Lung	lung
2	chr2:100438800-100452000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100439200-100445200	Weak transcription	Fetal Kidney	kidney
4	chr2:100440400-100448800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:100441200-100444400	Enhancers	Liver	Liver
6	chr2:100441600-100450000	Weak transcription	Fetal Brain Male	brain
7	chr2:100442000-100444400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:100442400-100444600	Strong transcription	Fetal Brain Female	brain
9	chr2:100442600-100444800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:100442600-100445200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:100442800-100445200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:100443000-100444200	Strong transcription	Fetal Lung	lung
13	chr2:100443000-100444800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:100443000-100445000	Enhancers	Left Ventricle	heart
15	chr2:100443000-100445200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:100443000-100445200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:100443000-100445200	Enhancers	Spleen	Spleen
18	chr2:100443000-100445400	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr2:100443200-100444000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:100443200-100444600	Enhancers	Fetal Thymus	thymus
21	chr2:100443200-100445000	Genic enhancers	Primary B cells from cord blood	blood
22	chr2:100443200-100445000	Strong transcription	Brain Germinal Matrix	brain
23	chr2:100443400-100444400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:100443400-100444400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:100443400-100444400	Strong transcription	Fetal Stomach	stomach
26	chr2:100443400-100444600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:100443400-100445000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr2:100443400-100445200	Strong transcription	Primary T cells from cord blood	blood
29	chr2:100443600-100444600	Enhancers	Adipose Nuclei	Adipose
30	chr2:100443600-100451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:100443600-100451800	Weak transcription	Aorta	Aorta
32	chr2:100443600-100454200	Weak transcription	Gastric	stomach
33	chr2:100443800-100444000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:100443800-100444200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:100443800-100444600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:100443800-100445000	Weak transcription	Right Ventricle	heart
37	chr2:100443800-100445000	Enhancers	Dnd41	blood
38	chr2:100443800-100447400	Weak transcription	Right Atrium	heart
39	chr2:100443800-100451600	Weak transcription	Thymus	Thymus
40	chr2:100443800-100496800	Weak transcription	Ovary	ovary

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