Variant report

Variant	rs932691
Chromosome Location	chr1:45323887-45323888
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45322184..45324769-chr1:45333969..45336888,2	K562	blood:
2	chr1:45320854..45325026-chr1:45326451..45330939,4	K562	blood:
3	chr1:45282917..45285899-chr1:45322845..45325469,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158188	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211046	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573543	0.94[ASN][1000 genomes]
rs11584031	0.80[EUR][1000 genomes]
rs12059964	0.83[ASN][1000 genomes]
rs12094007	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118515	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12120470	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144803	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1226572	0.84[ASN][1000 genomes]
rs12408818	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568071	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568279	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273940	0.93[EUR][1000 genomes]
rs263956	0.83[ASN][1000 genomes]
rs263962	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263965	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs263966	0.82[ASN][1000 genomes]
rs263975	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263977	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263980	0.82[ASN][1000 genomes]
rs263987	0.84[ASN][1000 genomes]
rs264005	0.82[ASN][1000 genomes]
rs264009	0.82[ASN][1000 genomes]
rs3121173	0.82[ASN][1000 genomes]
rs36107413	0.82[ASN][1000 genomes]
rs3795720	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs438493	0.82[ASN][1000 genomes]
rs452989	0.82[ASN][1000 genomes]
rs6429548	0.82[ASN][1000 genomes]
rs6688465	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696675	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514741	0.92[EUR][1000 genomes]
rs7525308	0.93[EUR][1000 genomes]
rs7526786	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7545808	0.93[EUR][1000 genomes]
rs7554177	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429058	0.82[ASN][1000 genomes]
rs9645347	0.93[EUR][1000 genomes]
rs9988451	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
3	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
4	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
5	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309000-45324600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:45309000-45332600	Weak transcription	Spleen	Spleen
4	chr1:45309000-45335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:45309200-45336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
7	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
8	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:45309400-45326400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:45309400-45340000	Weak transcription	NHLF	lung
14	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
16	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
17	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
19	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
20	chr1:45311400-45325800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:45313400-45343600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
23	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:45315000-45340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:45315000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:45315200-45345000	Weak transcription	Right Ventricle	heart
28	chr1:45315400-45324000	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:45315400-45325000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:45315400-45327200	Weak transcription	Right Atrium	heart
31	chr1:45315600-45325200	Strong transcription	Fetal Stomach	stomach
32	chr1:45315600-45332600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:45315600-45343000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:45315800-45326200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:45315800-45326600	Weak transcription	Osteobl	bone
36	chr1:45315800-45337600	Weak transcription	HepG2	liver
37	chr1:45316000-45326200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:45316000-45326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:45316000-45326600	Weak transcription	Brain Anterior Caudate	brain
40	chr1:45316000-45328600	Weak transcription	NHEK	skin
41	chr1:45316000-45336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:45316000-45337400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:45316000-45341000	Weak transcription	Thymus	Thymus
44	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:45316200-45332800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:45316800-45340400	Weak transcription	Fetal Lung	lung
48	chr1:45316800-45340600	Weak transcription	Lung	lung
49	chr1:45317000-45332800	Weak transcription	Gastric	stomach
50	chr1:45317200-45334200	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links