Variant report

Variant	rs11205384
Chromosome Location	chr1:150467368-150467369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10888583	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10888584	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11205370	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11205371	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11205373	0.81[EUR][1000 genomes]
rs11205375	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11205382	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11581786	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023277	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12031973	0.82[AMR][1000 genomes]
rs12049177	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260391	0.84[ASN][1000 genomes]
rs1260419	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1260420	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1260424	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1260457	0.81[ASN][1000 genomes]
rs1262432	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12731296	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12736375	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1313568	0.81[ASN][1000 genomes]
rs1313569	0.81[ASN][1000 genomes]
rs1566225	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694386	0.84[ASN][1000 genomes]
rs1776270	0.84[ASN][1000 genomes]
rs1815545	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1932934	0.84[EUR][1000 genomes]
rs2012751	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2133129	0.81[ASN][1000 genomes]
rs2264417	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2275246	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35705743	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35784258	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754214	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3754217	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3850844	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4446975	0.85[EUR][1000 genomes]
rs4451552	0.85[EUR][1000 genomes]
rs4926395	0.81[EUR][1000 genomes]
rs4926435	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4970922	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4970963	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4970964	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4970971	0.86[EUR][1000 genomes]
rs4970979	0.84[AMR][1000 genomes]
rs5011187	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6664703	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6678973	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6684939	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6687311	0.83[AMR][1000 genomes]
rs6699093	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696617	0.84[ASN][1000 genomes]
rs698920	0.80[AMR][1000 genomes]
rs698921	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs698922	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7411534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513182	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7513247	0.83[AMR][1000 genomes]
rs7553647	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs832621	0.81[EUR][1000 genomes]
rs834235	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs834237	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs834238	0.84[ASN][1000 genomes]
rs863862	0.83[ASN][1000 genomes]
rs875514	0.84[AMR][1000 genomes]
rs9436009	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9436116	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9436118	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9436120	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9661040	0.83[AMR][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
2	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
3	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
4	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
5	chr1:150460800-150470000	Weak transcription	HMEC	breast
6	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
7	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
11	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:150461400-150467400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:150461400-150470800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
21	chr1:150461600-150467400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:150461600-150467600	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:150461600-150473000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:150461600-150473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:150461800-150473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:150462000-150468600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
28	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
29	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:150462400-150473800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
33	chr1:150463600-150471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:150464000-150475600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
36	chr1:150464200-150468600	Weak transcription	K562	blood
37	chr1:150464200-150468800	Weak transcription	Colonic Mucosa	Colon
38	chr1:150464200-150470000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
40	chr1:150464400-150468400	Weak transcription	Primary B cells from cord blood	blood
41	chr1:150464400-150468600	Weak transcription	HSMM	muscle
42	chr1:150464400-150471400	Weak transcription	Hela-S3	cervix
43	chr1:150464400-150475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:150465400-150468600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:150465600-150468600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:150465600-150470000	Weak transcription	Right Ventricle	heart
48	chr1:150465800-150468600	Weak transcription	Ovary	ovary
49	chr1:150465800-150469000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150466000-150468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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