Variant report

Variant	rs58984568
Chromosome Location	chr1:45412907-45412908
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	chr1:45412341..45415301-chr1:45476902..45478452,2	K562	blood:
2	chr1:45285132..45287994-chr1:45412522..45414925,2	K562	blood:

Variant related genes	Relation type
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56740822	1.00[AFR][1000 genomes]
rs58350869	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
2	chr1:45359200-45423600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:45362200-45424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:45387800-45413000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:45387800-45413200	Weak transcription	Spleen	Spleen
6	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:45390400-45426200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:45391200-45438400	Weak transcription	Dnd41	blood
9	chr1:45391200-45439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:45391400-45437200	Weak transcription	Fetal Thymus	thymus
11	chr1:45392400-45433800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:45392600-45423600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:45392800-45443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:45397600-45424000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:45397800-45435800	Weak transcription	Primary B cells from cord blood	blood
16	chr1:45400800-45421400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45402800-45424200	Weak transcription	Lung	lung
18	chr1:45407200-45415800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:45407400-45423600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:45407400-45423800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:45407600-45414400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:45407600-45438400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:45410200-45424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:45410400-45423600	Weak transcription	NHEK	skin
25	chr1:45410600-45415400	Enhancers	Fetal Stomach	stomach
26	chr1:45410600-45423800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:45411000-45414200	Enhancers	Fetal Muscle Leg	muscle
28	chr1:45411200-45414000	Enhancers	Fetal Lung	lung
29	chr1:45411400-45416000	Enhancers	Stomach Mucosa	stomach
30	chr1:45411400-45423800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:45411600-45413200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:45411600-45413400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:45411600-45413600	Enhancers	Colon Smooth Muscle	Colon
34	chr1:45411600-45414000	Enhancers	Fetal Kidney	kidney
35	chr1:45411600-45414000	Enhancers	Ovary	ovary
36	chr1:45411600-45415200	Enhancers	HepG2	liver
37	chr1:45411600-45415400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:45411800-45413200	Enhancers	Fetal Intestine Small	intestine
39	chr1:45411800-45413200	Enhancers	Right Ventricle	heart
40	chr1:45411800-45413600	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:45411800-45413800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:45411800-45413800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:45411800-45413800	Enhancers	Fetal Heart	heart
44	chr1:45411800-45413800	Enhancers	NH-A	brain
45	chr1:45411800-45414000	Enhancers	Left Ventricle	heart
46	chr1:45411800-45414000	Enhancers	Osteobl	bone
47	chr1:45411800-45414200	Enhancers	Gastric	stomach
48	chr1:45411800-45414200	Enhancers	Right Atrium	heart
49	chr1:45411800-45414200	Enhancers	HSMM	muscle
50	chr1:45411800-45414200	Enhancers	NHLF	lung

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