Variant report

Variant	rs2383479
Chromosome Location	chr1:186351769-186351770
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186351329..186353389-chr1:186372131..186374033,2	K562	blood:
2	chr1:186306761..186309218-chr1:186351656..186353666,2	K562	blood:
3	chr1:186350456..186352383-chr1:186365203..186367027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268662	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1003127	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911847	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911849	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911854	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911858	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11582844	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064371	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12069419	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12078527	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12082399	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12084264	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12085497	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12093440	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1547084	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17580052	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2037959	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273779	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2383480	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3753564	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753567	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61810289	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61810292	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61831150	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61831151	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7519719	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7539128	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv548399	chr1:186295930-186353461	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186358000	Weak transcription	Left Ventricle	heart
2	chr1:186345400-186358600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:186345400-186359000	Weak transcription	Lung	lung
4	chr1:186345400-186371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:186345400-186371600	Weak transcription	Esophagus	oesophagus
6	chr1:186345400-186371600	Weak transcription	Gastric	stomach
7	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
8	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
9	chr1:186345800-186361200	Weak transcription	Aorta	Aorta
10	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:186346000-186353200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:186346000-186366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:186346200-186351800	Weak transcription	Fetal Lung	lung
14	chr1:186346200-186357400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:186346200-186357800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:186346200-186357800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:186346200-186357800	Weak transcription	Fetal Kidney	kidney
18	chr1:186346200-186359000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:186346200-186359000	Weak transcription	Ovary	ovary
20	chr1:186346200-186359000	Weak transcription	Thymus	Thymus
21	chr1:186346200-186360600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:186346200-186361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:186346200-186361200	Weak transcription	Pancreas	Pancrea
24	chr1:186346200-186361400	Weak transcription	Right Ventricle	heart
25	chr1:186346200-186365200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:186346200-186365200	Weak transcription	Psoas Muscle	Psoas
27	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
29	chr1:186346400-186351800	Weak transcription	Fetal Brain Male	brain
30	chr1:186346400-186351800	Weak transcription	A549	lung
31	chr1:186346400-186352000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:186346400-186352200	Weak transcription	HMEC	breast
33	chr1:186346400-186354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:186346400-186357800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:186346400-186359400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:186346400-186359400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:186346400-186361000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:186346400-186361200	Weak transcription	Brain Angular Gyrus	brain
39	chr1:186346400-186376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:186346600-186357400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:186346600-186357400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:186346600-186359400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:186346800-186352000	Weak transcription	Fetal Brain Female	brain
46	chr1:186346800-186354000	Weak transcription	Fetal Heart	heart
47	chr1:186346800-186354600	Strong transcription	K562	blood
48	chr1:186346800-186357400	Weak transcription	Stomach Mucosa	stomach
49	chr1:186347000-186357200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:186347200-186370800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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