Variant report

Variant	rs488126
Chromosome Location	chr1:91989572-91989573
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	chr1:91978959..91981332-chr1:91989401..91992669,3	K562	blood:
2	chr1:91988742..91991718-chr1:92001442..92003579,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs476801	0.86[AFR][1000 genomes]
rs477330	1.00[ASW][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs492410	0.86[AFR][1000 genomes]
rs505438	0.86[AFR][1000 genomes]
rs540753	0.97[AFR][1000 genomes]
rs576417	0.97[AFR][1000 genomes]
rs577392	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs595362	0.97[AFR][1000 genomes]
rs595801	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967600-91990600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
3	chr1:91968000-91991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:91968400-91992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:91968600-91991000	Weak transcription	Fetal Stomach	stomach
6	chr1:91968800-91991200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:91971000-91991200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:91972400-91992400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:91974400-91992000	Weak transcription	HUVEC	blood vessel
10	chr1:91974800-91991000	Strong transcription	Dnd41	blood
11	chr1:91975000-91995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:91975600-91991600	Weak transcription	NHLF	lung
13	chr1:91977600-91992600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:91977800-91995200	Weak transcription	HMEC	breast
15	chr1:91978800-91993400	Weak transcription	Osteobl	bone
16	chr1:91980000-91991600	Weak transcription	Placenta	Placenta
17	chr1:91980200-91992000	Weak transcription	Fetal Kidney	kidney
18	chr1:91980400-91991600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:91980600-91992400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:91980600-91995800	Weak transcription	HSMM	muscle
21	chr1:91981000-91991600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:91981000-91995200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:91983000-92002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:91983200-91989600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:91983200-91995400	Weak transcription	Hela-S3	cervix
26	chr1:91983200-91995400	Weak transcription	NHEK	skin
27	chr1:91983400-91991400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:91983400-91995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:91983400-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:91984000-91991600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:91984200-91991200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:91984400-91992200	Weak transcription	Fetal Thymus	thymus
33	chr1:91984400-91994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:91984400-91998000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:91984600-91994400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:91984600-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:91984600-91997800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:91985000-92000400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:91986600-91991400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:91986800-91989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:91987200-91993400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:91987800-91989600	Enhancers	Fetal Lung	lung
43	chr1:91987800-91990800	Enhancers	Fetal Heart	heart
44	chr1:91988400-91989600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:91988400-91989800	Enhancers	A549	lung
46	chr1:91988400-91990800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:91988600-91990800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:91988600-91993200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:91988800-91989600	Enhancers	NHDF-Ad	bronchial
50	chr1:91988800-91990000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links