Variant report

Variant	rs57118905
Chromosome Location	chr13:50285985-50285986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50279309..50282316-chr13:50283856..50287335,3	K562	blood:
2	chr13:50284596..50287038-chr13:50289146..50291818,2	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1043729	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12585921	0.84[EUR][1000 genomes]
rs13313256	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073347	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073356	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1819191	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885723	0.92[EUR][1000 genomes]
rs1969739	0.87[ASN][1000 genomes]
rs1986085	0.84[EUR][1000 genomes]
rs1998363	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181184	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236326	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407875	0.80[EUR][1000 genomes]
rs3736830	0.99[ASN][1000 genomes]
rs3742094	0.92[EUR][1000 genomes]
rs3782929	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3903770	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4941655	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941656	0.92[EUR][1000 genomes]
rs4942862	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942865	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56738401	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57783887	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57794226	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58124341	0.92[EUR][1000 genomes]
rs60019803	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60106669	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60856213	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7321391	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7334018	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7335016	0.92[EUR][1000 genomes]
rs7335310	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73483835	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485710	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765291	0.88[EUR][1000 genomes]
rs765292	0.92[EUR][1000 genomes]
rs7984711	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989633	0.92[EUR][1000 genomes]
rs7990293	0.89[ASN][1000 genomes]
rs7993631	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993860	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994062	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535306	1.00[ASN][1000 genomes]
rs9591293	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591294	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9591296	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596172	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596173	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596174	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596175	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596176	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596181	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596188	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596189	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596194	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking 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	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
2	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
5	chr13:50266200-50296000	Weak transcription	K562	blood
6	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:50266200-50307800	Weak transcription	Gastric	stomach
9	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:50266400-50289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
12	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
13	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
14	chr13:50267200-50289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:50270400-50286400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:50271400-50286400	Strong transcription	Dnd41	blood
17	chr13:50271400-50286800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
20	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
21	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:50274000-50286600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr13:50274200-50286400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr13:50274200-50286400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:50275400-50286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:50275800-50289200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:50275800-50290000	Weak transcription	Brain Substantia Nigra	brain
28	chr13:50276000-50286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:50276000-50288400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr13:50276000-50289600	Weak transcription	Fetal Brain Male	brain
31	chr13:50276000-50289600	Weak transcription	Fetal Brain Female	brain
32	chr13:50276000-50291800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
34	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
35	chr13:50276200-50288600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
37	chr13:50277600-50286000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:50278000-50286400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:50278800-50286000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:50278800-50286000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:50278800-50286400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:50278800-50286400	Strong transcription	Primary B cells from cord blood	blood
43	chr13:50278800-50286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:50279000-50286400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr13:50279200-50286200	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:50279200-50286800	Strong transcription	Fetal Thymus	thymus
47	chr13:50279400-50286400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr13:50279800-50289200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion

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