Variant report

Variant	rs1930761
Chromosome Location	chr1:56957466-56957467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10789023	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789024	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888976	0.83[ASN][1000 genomes]
rs11206810	0.82[EUR][1000 genomes]
rs11206814	0.84[EUR][1000 genomes]
rs11206816	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11206817	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11206818	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11206823	0.90[ASN][1000 genomes]
rs11206825	0.93[ASN][1000 genomes]
rs11206830	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11206831	0.83[EUR][1000 genomes]
rs11206832	0.83[EUR][1000 genomes]
rs11589246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4912291	0.90[ASN][1000 genomes]
rs61772590	0.83[EUR][1000 genomes]
rs6664934	0.80[ASN][1000 genomes]
rs7525717	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7532239	0.80[ASN][1000 genomes]
rs8016	0.84[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56943800-56957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:56943800-56959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:56944400-56959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:56944600-56957800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
6	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:56950400-56959400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:56951000-56959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:56953600-56959400	Weak transcription	Aorta	Aorta
10	chr1:56955200-56961000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:56955400-56960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:56955600-56957800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:56956000-56958400	Enhancers	HUVEC	blood vessel
14	chr1:56956000-56960800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:56956200-56957800	Enhancers	Small Intestine	intestine
16	chr1:56956200-56958200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:56956200-56958200	Enhancers	Brain Anterior Caudate	brain
18	chr1:56956200-56958800	Enhancers	Liver	Liver
19	chr1:56956400-56957600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:56956400-56957800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:56956400-56958400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:56956400-56961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:56956600-56957600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:56956600-56959600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:56956600-56959800	Weak transcription	Fetal Thymus	thymus
26	chr1:56956600-56961200	Weak transcription	A549	lung
27	chr1:56956800-56958200	Enhancers	Adipose Nuclei	Adipose
28	chr1:56957000-56957600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:56957000-56958000	Enhancers	Brain Substantia Nigra	brain
30	chr1:56957000-56958000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:56957000-56958000	Enhancers	Ovary	ovary
32	chr1:56957000-56958000	Enhancers	Osteobl	bone
33	chr1:56957000-56958200	Enhancers	Fetal Lung	lung
34	chr1:56957000-56958200	Strong transcription	HSMM	muscle
35	chr1:56957000-56959600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:56957200-56957600	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:56957200-56957600	Genic enhancers	Fetal Stomach	stomach
38	chr1:56957200-56957600	Enhancers	Stomach Mucosa	stomach
39	chr1:56957200-56957600	Enhancers	NH-A	brain
40	chr1:56957200-56957600	Enhancers	NHEK	skin
41	chr1:56957200-56957800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:56957200-56958200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:56957200-56958200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:56957200-56958200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:56957200-56958200	Enhancers	Colon Smooth Muscle	Colon
46	chr1:56957200-56958200	Genic enhancers	Fetal Muscle Leg	muscle
47	chr1:56957200-56958200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:56957200-56958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:56957200-56958400	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr1:56957200-56958400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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