Variant report

Variant	rs2477550
Chromosome Location	chr1:193229535-193229536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16835204	0.90[EUR][1000 genomes]
rs2265555	0.90[EUR][1000 genomes]
rs41305084	0.90[EUR][1000 genomes]
rs506721	0.90[EUR][1000 genomes]
rs74130935	0.90[EUR][1000 genomes]
rs74130941	0.90[EUR][1000 genomes]
rs74130942	0.90[EUR][1000 genomes]
rs7518409	0.90[EUR][1000 genomes]
rs7521045	0.90[EUR][1000 genomes]
rs817135	0.90[EUR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
4	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
9	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
11	chr1:193217000-193231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:193217400-193232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:193217400-193232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:193217600-193235200	Weak transcription	NHEK	skin
17	chr1:193217600-193235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:193218000-193233400	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
20	chr1:193218200-193235000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:193218200-193236800	Weak transcription	A549	lung
22	chr1:193218400-193230800	Weak transcription	Thymus	Thymus
23	chr1:193218400-193233600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:193218400-193233600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:193218400-193235600	Weak transcription	Placenta	Placenta
26	chr1:193218400-193239200	Weak transcription	Osteobl	bone
27	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
28	chr1:193218600-193231400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:193219000-193230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:193219000-193232800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:193219000-193236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:193219400-193233400	Weak transcription	HepG2	liver
36	chr1:193219600-193235000	Weak transcription	Liver	Liver
37	chr1:193219600-193235000	Weak transcription	K562	blood
38	chr1:193220000-193232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:193220600-193231800	Weak transcription	NH-A	brain
41	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:193221200-193233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:193224600-193233400	Weak transcription	Fetal Brain Male	brain
45	chr1:193224600-193234400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:193226200-193230400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:193226800-193234600	Weak transcription	GM12878-XiMat	blood
48	chr1:193227000-193233400	Weak transcription	NHDF-Ad	bronchial
49	chr1:193227200-193230000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:193227400-193230000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links