Variant report

Variant	rs17131826
Chromosome Location	chr10:1030987-1030988
allele	A/G
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:11)
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	chr10:1030637-1032329	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1030088..1034279-chr10:1100732..1103594,4	MCF-7	breast:
2	chr10:1019821..1022788-chr10:1029841..1033519,4	MCF-7	breast:
3	chr10:1010243..1012883-chr10:1030629..1033582,2	K562	blood:
4	chr10:1015043..1019353-chr10:1030351..1034278,6	MCF-7	breast:
5	chr10:1030029..1032197-chr14:35022504..35024073,2	MCF-7	breast:
6	chr10:974439..980732-chr10:1030011..1038533,28	MCF-7	breast:
7	chr10:1020473..1022394-chr10:1030542..1032536,2	K562	blood:
8	chr10:988056..990097-chr10:1030417..1032200,2	K562	blood:
9	chr10:895582..897748-chr10:1030180..1032375,2	MCF-7	breast:
10	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:
11	chr10:1019761..1022243-chr10:1028840..1032476,4	MCF-7	breast:

No data

Variant related genes	Relation type
GTPBP4	TF binding region
ENSG00000047056	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000229869	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10508206	1.00[JPT][hapmap]
rs11250228	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12355506	1.00[CEU][hapmap]
rs12762955	1.00[JPT][hapmap]
rs12784928	1.00[JPT][hapmap]
rs2127604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41314629	0.87[EUR][1000 genomes]
rs7072554	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7075188	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7089968	1.00[JPT][hapmap]
rs7091030	1.00[MEX][hapmap]
rs7094905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101036	1.00[CEU][hapmap]
rs72478232	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72478237	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72760909	0.80[AMR][1000 genomes]
rs72778244	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914308	1.00[MEX][hapmap]
rs9732218	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
9	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv2753756	chr10:985264-1052950	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv5521	chr10:986842-1031352	Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	esv1812809	chr10:1021156-1051728	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	esv1813158	chr10:1021156-1062915	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	esv1831483	chr10:1021156-1062915	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17131826	ZNF18	trans	brain	seeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1023000-1032000	Weak transcription	NHLF	lung
2	chr10:1024600-1033200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:1025200-1031400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:1025400-1033000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:1026600-1033000	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:1026800-1031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:1026800-1033000	Weak transcription	Liver	Liver
8	chr10:1026800-1033400	Weak transcription	Aorta	Aorta
9	chr10:1026800-1033400	Weak transcription	Lung	lung
10	chr10:1026800-1033400	Weak transcription	Ovary	ovary
11	chr10:1027000-1031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:1027000-1032200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:1027200-1031600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:1027200-1031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:1027200-1033000	Weak transcription	Primary T cells from cord blood	blood
16	chr10:1027400-1031600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:1027400-1033000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:1027400-1033000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr10:1027400-1033200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:1027400-1033200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:1027400-1033200	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:1027800-1033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:1028000-1032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:1028000-1033000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:1028200-1031600	Weak transcription	Dnd41	blood
26	chr10:1028200-1033200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:1028200-1033200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:1028600-1033000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:1028600-1033000	Weak transcription	Brain Substantia Nigra	brain
30	chr10:1028800-1033200	Weak transcription	Brain Germinal Matrix	brain
31	chr10:1029000-1032000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr10:1029000-1033000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr10:1029200-1033400	Enhancers	Fetal Intestine Large	intestine
34	chr10:1029200-1033400	Enhancers	Fetal Intestine Small	intestine
35	chr10:1029400-1031600	Weak transcription	Adipose Nuclei	Adipose
36	chr10:1029400-1033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:1029400-1033200	Enhancers	Stomach Mucosa	stomach
38	chr10:1029400-1033200	Enhancers	HepG2	liver
39	chr10:1029600-1031000	Weak transcription	Pancreas	Pancrea
40	chr10:1029600-1031400	Weak transcription	HSMM	muscle
41	chr10:1029600-1031800	Weak transcription	Right Atrium	heart
42	chr10:1029600-1033000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:1030000-1031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:1030000-1031000	Flanking Active TSS	Hela-S3	cervix
45	chr10:1030000-1031200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:1030000-1032200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:1030000-1032400	Weak transcription	GM12878-XiMat	blood
48	chr10:1030000-1033000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:1030000-1033400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr10:1030000-1033400	Weak transcription	Esophagus	oesophagus

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