Variant report

Variant	rs1783818
Chromosome Location	chr11:57437551-57437552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57437237-57437576	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57436045..57439920-chr11:57463580..57467800,3	K562	blood:
2	chr11:57281647..57284609-chr11:57436197..57438569,2	K562	blood:
3	chr11:57423375..57427275-chr11:57433374..57437610,8	MCF-7	breast:
4	chr11:57435166..57438481-chr11:57528814..57531638,3	K562	blood:
5	chr11:57192480..57194732-chr11:57434843..57437661,2	K562	blood:
6	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:
7	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
8	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
9	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
10	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC5	TF binding region
ENSG00000254662	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000149115	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000156603	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10750870	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792110	0.89[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896644	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896649	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896653	0.95[ASN][1000 genomes]
rs11229109	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11570176	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11570181	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12270209	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12274865	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12363024	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805343	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424753	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1613592	0.85[CEU][hapmap];0.84[ASN][1000 genomes]
rs1624389	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1631684	0.82[CEU][hapmap];0.81[ASN][1000 genomes]
rs1647394	0.81[ASN][1000 genomes]
rs1647403	0.84[ASN][1000 genomes]
rs17455422	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17455626	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783824	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783829	0.80[EUR][1000 genomes]
rs1783976	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783977	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1783978	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783979	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783980	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783981	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783983	0.85[CEU][hapmap]
rs1783985	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1785498	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1785499	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1786438	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1798172	0.85[CEU][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1798173	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2156638	0.89[CEU][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911728	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2956981	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956982	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3017889	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36036499	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4611222	0.89[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471398	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs547118	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56392705	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585337	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585761	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs588612	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs592785	0.81[ASN][1000 genomes]
rs593239	0.82[ASN][1000 genomes]
rs606499	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623541	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627145	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs639158	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs644219	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645145	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs652191	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs652908	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs653889	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658936	0.93[ASN][1000 genomes]
rs659165	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs665058	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671508	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs682258	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs686489	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7105506	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115528	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7117020	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120868	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7479922	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7948571	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1783818	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs1783818	YPEL4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436400-57437600	Weak transcription	Small Intestine	intestine
2	chr11:57436400-57437600	Flanking Active TSS	Dnd41	blood
3	chr11:57436400-57439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:57436400-57439800	Weak transcription	Gastric	stomach
5	chr11:57436400-57439800	Weak transcription	Ovary	ovary
6	chr11:57436400-57439800	Weak transcription	Spleen	Spleen
7	chr11:57436400-57440200	Weak transcription	Pancreas	Pancrea
8	chr11:57436400-57440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:57436600-57437600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57436600-57437600	Flanking Active TSS	Hela-S3	cervix
11	chr11:57436600-57437800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:57436600-57437800	Enhancers	Lung	lung
13	chr11:57436600-57438600	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:57436600-57439200	Weak transcription	Aorta	Aorta
15	chr11:57436600-57439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:57436600-57440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:57436800-57437800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:57436800-57437800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:57436800-57437800	Enhancers	Fetal Thymus	thymus
21	chr11:57436800-57438000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:57436800-57438200	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:57436800-57438800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:57436800-57438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:57436800-57438800	Enhancers	Left Ventricle	heart
26	chr11:57436800-57439000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57436800-57439800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:57436800-57441800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:57437000-57437600	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:57437000-57437600	Enhancers	Brain Germinal Matrix	brain
31	chr11:57437000-57437600	Flanking Active TSS	K562	blood
32	chr11:57437000-57437600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:57437000-57437600	Enhancers	Osteobl	bone
34	chr11:57437000-57437800	Enhancers	Fetal Intestine Small	intestine
35	chr11:57437000-57437800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:57437000-57437800	Enhancers	HUVEC	blood vessel
37	chr11:57437000-57438000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:57437000-57438000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:57437000-57438200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:57437000-57438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:57437000-57438400	Enhancers	Primary B cells from cord blood	blood
42	chr11:57437000-57438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:57437000-57438800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:57437000-57439000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:57437000-57439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:57437000-57439200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:57437000-57439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:57437000-57439200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:57437000-57439200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:57437000-57439200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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