Variant report

Variant	rs10921318
Chromosome Location	chr1:193104827-193104828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
2	chr1:193082431..193083952-chr1:193102861..193105016,2	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10494674	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10754046	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801173	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs10801174	1.00[CEU][hapmap]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10801180	0.88[ASN][1000 genomes]
rs10801182	0.88[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10921308	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921317	0.90[ASN][1000 genomes]
rs10921319	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10921325	0.90[JPT][hapmap]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10921330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs12090626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12137318	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12141392	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1539724	0.91[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2370028	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2370079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3738244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818865	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3820417	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3945872	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4657745	0.88[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657843	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657846	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4658079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs569656	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs6428151	0.90[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6661522	0.81[CHB][hapmap]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6676416	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6680224	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6692342	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6697079	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs693519	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7515024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs817140	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9427838	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193108000	Weak transcription	Gastric	stomach
2	chr1:193092600-193109400	Weak transcription	Esophagus	oesophagus
3	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
5	chr1:193093800-193105800	Weak transcription	Right Atrium	heart
6	chr1:193093800-193109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
9	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:193094200-193112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
14	chr1:193094400-193109600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:193094600-193108600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:193094600-193110400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
18	chr1:193095000-193109000	Weak transcription	Spleen	Spleen
19	chr1:193095000-193124400	Strong transcription	Dnd41	blood
20	chr1:193095200-193108800	Weak transcription	Pancreas	Pancrea
21	chr1:193096000-193105600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:193098000-193105800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:193098800-193110800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:193098800-193111000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:193098800-193112200	Strong transcription	HSMM	muscle
27	chr1:193099000-193108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:193099000-193108000	Weak transcription	Fetal Stomach	stomach
29	chr1:193099000-193108800	Weak transcription	Lung	lung
30	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:193099200-193112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:193100000-193109000	Weak transcription	Right Ventricle	heart
33	chr1:193100000-193115000	Weak transcription	Fetal Brain Male	brain
34	chr1:193100400-193105200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:193100800-193107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:193101000-193108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:193101000-193115400	Weak transcription	Psoas Muscle	Psoas
38	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:193101400-193105000	Weak transcription	Thymus	Thymus
40	chr1:193101400-193105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:193101400-193105400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:193101400-193108600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:193101400-193111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
45	chr1:193101600-193105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:193101600-193105000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:193101600-193105000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:193101600-193105000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:193101600-193105000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:193101600-193105000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links