Variant report

Variant	rs58419731
Chromosome Location	chr2:64106186-64106187
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64104526..64107169-chr2:64109891..64112515,3	K562	blood:
2	chr2:64101527..64104952-chr2:64106115..64108831,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251775	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11886163	0.84[EUR][1000 genomes]
rs17028259	0.84[EUR][1000 genomes]
rs4610042	0.82[EUR][1000 genomes]
rs6704544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6710437	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6727909	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6740299	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71393337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72891054	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72891062	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7557394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9677805	0.95[AMR][1000 genomes];0.95[EUR][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:64082200-64110000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:64083000-64123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:64083200-64110200	Weak transcription	Small Intestine	intestine
6	chr2:64083200-64110600	Weak transcription	Pancreas	Pancrea
7	chr2:64086600-64110000	Weak transcription	Esophagus	oesophagus
8	chr2:64088000-64107800	Weak transcription	Colonic Mucosa	Colon
9	chr2:64091400-64110000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:64091800-64107800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:64093000-64106400	Strong transcription	Fetal Thymus	thymus
12	chr2:64093800-64107600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:64093800-64109200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:64093800-64110000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:64094000-64107800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:64094000-64109400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:64094000-64110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:64099400-64106200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:64100000-64106400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:64101200-64107600	Weak transcription	NH-A	brain
21	chr2:64101200-64113600	Weak transcription	Fetal Stomach	stomach
22	chr2:64101400-64110000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:64101400-64110600	Weak transcription	HUVEC	blood vessel
24	chr2:64101600-64106200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:64101600-64108800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:64101600-64109400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:64101600-64110000	Weak transcription	NHLF	lung
28	chr2:64101800-64106600	Strong transcription	Dnd41	blood
29	chr2:64101800-64110000	Weak transcription	Fetal Lung	lung
30	chr2:64101800-64110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:64101800-64110400	Weak transcription	Aorta	Aorta
32	chr2:64101800-64112800	Weak transcription	Fetal Kidney	kidney
33	chr2:64102000-64107400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:64102000-64107800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:64102000-64109400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:64102000-64110400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:64102200-64107400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:64102200-64107800	Weak transcription	Osteobl	bone
39	chr2:64102200-64113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:64102400-64107400	Weak transcription	Ovary	ovary
41	chr2:64102400-64108000	Weak transcription	K562	blood
42	chr2:64102400-64110200	Weak transcription	Hela-S3	cervix
43	chr2:64102600-64106200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:64102600-64107400	Weak transcription	HSMMtube	muscle
45	chr2:64102800-64110600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:64103000-64107400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:64103000-64109600	Weak transcription	Thymus	Thymus
48	chr2:64103200-64106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:64103200-64117400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:64103400-64107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links