Variant report

Variant	rs993075
Chromosome Location	chr1:56994938-56994939
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56967555..56969959-chr1:56994759..56997021,2	K562	blood:
2	chr1:56968459..56970187-chr1:56994690..56997021,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10888977	0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11206833	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12082242	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1759750	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1759752	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1777274	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1777277	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1810930	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1930760	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs1930762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532850	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4628	0.85[CEU][hapmap]
rs4912314	0.81[JPT][hapmap]
rs4912377	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55798508	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515808	0.81[JPT][hapmap]
rs7529520	0.87[EUR][1000 genomes]
rs7535757	0.81[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7556056	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953856	0.96[YRI][hapmap];0.94[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56977800-56999200	Weak transcription	A549	lung
3	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
5	chr1:56990000-56995200	Genic enhancers	Fetal Muscle Leg	muscle
6	chr1:56990000-57004000	Genic enhancers	Liver	Liver
7	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
8	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:56990600-56995400	Enhancers	Small Intestine	intestine
10	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
12	chr1:56990800-56996600	Genic enhancers	NHLF	lung
13	chr1:56990800-56997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:56990800-56997200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:56990800-56997400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:56991000-56996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:56991200-56995000	Genic enhancers	Fetal Intestine Small	intestine
18	chr1:56991200-56995000	Enhancers	Right Ventricle	heart
19	chr1:56991200-56995200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:56991200-56995200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:56991200-56996600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:56991400-56995200	Enhancers	Fetal Intestine Large	intestine
23	chr1:56991600-56995000	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:56991600-56995600	Enhancers	Colon Smooth Muscle	Colon
25	chr1:56991800-56995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:56991800-56996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:56992000-56995000	Weak transcription	Osteobl	bone
28	chr1:56992000-56995600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
30	chr1:56992200-56995000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:56992200-56995200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:56992200-56995400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:56992400-56995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:56992400-56995200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:56992400-56995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:56992600-56995200	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:56992600-56997400	Weak transcription	Lung	lung
38	chr1:56992800-56997800	Weak transcription	HSMMtube	muscle
39	chr1:56992800-56998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:56992800-56998800	Weak transcription	Gastric	stomach
41	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
42	chr1:56993000-56998800	Enhancers	Ovary	ovary
43	chr1:56993000-56999800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
45	chr1:56993200-56995000	Genic enhancers	Placenta	Placenta
46	chr1:56993200-56995800	Strong transcription	HepG2	liver
47	chr1:56993200-57001400	Enhancers	Right Atrium	heart
48	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
49	chr1:56993800-56998000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:56993800-56998200	Weak transcription	Primary B cells from peripheral blood	blood

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