Variant report

Variant	rs7558575
Chromosome Location	chr2:100478648-100478649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10865033	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10865034	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11123801	0.96[ASN][1000 genomes]
rs12478013	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12712060	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13416974	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1344701	0.84[AMR][1000 genomes]
rs1346621	0.80[AMR][1000 genomes]
rs1366762	0.86[EUR][1000 genomes]
rs1366763	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1568786	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1594111	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1594113	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2309690	0.81[AMR][1000 genomes]
rs2871310	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4286327	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4850916	0.96[ASN][1000 genomes]
rs6542902	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6743473	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6747845	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6755396	0.88[EUR][1000 genomes]
rs7586604	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100443800-100496800	Weak transcription	Ovary	ovary
2	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas
3	chr2:100474400-100479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:100474400-100481800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:100474600-100481200	Weak transcription	Fetal Kidney	kidney
6	chr2:100474800-100481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100475000-100480400	Weak transcription	Gastric	stomach
8	chr2:100475400-100483800	Enhancers	Osteobl	bone
9	chr2:100475600-100480400	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:100475800-100481000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:100476000-100481000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100476000-100481000	Weak transcription	Small Intestine	intestine
13	chr2:100476200-100480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:100476800-100480800	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:100477000-100479000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:100477000-100484800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:100477200-100479200	Enhancers	Dnd41	blood
18	chr2:100477200-100479200	Enhancers	GM12878-XiMat	blood
19	chr2:100477200-100479400	Enhancers	Fetal Lung	lung
20	chr2:100477200-100479400	Enhancers	HUVEC	blood vessel
21	chr2:100477400-100479200	Enhancers	Primary T cells from cord blood	blood
22	chr2:100477400-100479200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:100477400-100479200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:100477400-100479200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:100477400-100479200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:100477400-100479400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:100477400-100481000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:100477400-100482800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:100477400-100483000	Enhancers	NH-A	brain
30	chr2:100477600-100479000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:100477600-100479200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:100477600-100479200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:100477600-100479200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:100477600-100479200	Enhancers	Fetal Stomach	stomach
35	chr2:100477600-100479200	Enhancers	Fetal Thymus	thymus
36	chr2:100477600-100480800	Weak transcription	Fetal Brain Female	brain
37	chr2:100477800-100478800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:100477800-100479200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:100478000-100478800	Weak transcription	Fetal Brain Male	brain
40	chr2:100478000-100480000	Enhancers	Primary B cells from cord blood	blood
41	chr2:100478000-100480400	Weak transcription	Fetal Heart	heart
42	chr2:100478000-100482600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:100478000-100490200	Weak transcription	Thymus	Thymus
44	chr2:100478200-100481200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:100478400-100478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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