Variant report

Variant	rs58730941
Chromosome Location	chr2:30819971-30819972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17009647	0.85[AMR][1000 genomes]
rs17009802	0.87[AMR][1000 genomes]
rs17009815	1.00[AMR][1000 genomes]
rs57890362	1.00[AMR][1000 genomes]
rs59120669	1.00[AMR][1000 genomes]
rs59228351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59450374	1.00[AMR][1000 genomes]
rs60821673	0.87[AMR][1000 genomes]
rs60847386	1.00[AMR][1000 genomes]
rs61006780	0.85[AMR][1000 genomes]
rs61232451	1.00[AMR][1000 genomes]
rs6714637	1.00[AMR][1000 genomes]
rs6718986	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738751	0.85[AFR][1000 genomes]
rs6747522	0.92[AFR][1000 genomes]
rs6761612	1.00[AMR][1000 genomes]
rs72856691	1.00[AMR][1000 genomes]
rs72858915	1.00[AMR][1000 genomes]
rs72858918	1.00[AMR][1000 genomes]
rs72858941	1.00[AMR][1000 genomes]
rs72858988	1.00[AMR][1000 genomes]
rs72858990	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72863005	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72863019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863027	1.00[AMR][1000 genomes]
rs72863050	0.92[AFR][1000 genomes]
rs72863089	0.92[AFR][1000 genomes]
rs72863091	0.92[AFR][1000 genomes]
rs7557310	0.87[AMR][1000 genomes]
rs7578150	0.87[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:30807400-30831200	Weak transcription	K562	blood
10	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:30809800-30822200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:30811200-30821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30811200-30821600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:30811400-30824800	Weak transcription	Aorta	Aorta
16	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
17	chr2:30811600-30822800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:30811600-30863000	Weak transcription	Ovary	ovary
19	chr2:30811800-30827000	Weak transcription	Left Ventricle	heart
20	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:30813200-30832800	Weak transcription	Fetal Heart	heart
22	chr2:30815000-30834400	Weak transcription	Fetal Lung	lung
23	chr2:30817000-30826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:30818400-30831600	Weak transcription	A549	lung
25	chr2:30818800-30835000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30819000-30820400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30819000-30828000	Weak transcription	Fetal Kidney	kidney
28	chr2:30819000-30831400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:30819200-30820400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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