Variant report

Variant	rs2472533
Chromosome Location	chr10:1091563-1091564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:1091529-1092494	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:1088970-1092654	PBDE	blood:	n/a	n/a
3	POLR2A	chr10:1089350-1092506	A549	lung:	n/a	n/a
4	POLR2A	chr10:1091309-1091960	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr10:1082282-1092534	K562	blood:	n/a	n/a
6	FOXA1	chr10:1091535-1091895	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:1088828-1092481	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr10:1091314-1091712	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:1088966-1092589	IMR90	lung:	n/a	n/a
10	POLR2A	chr10:1089574-1091714	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:1089125-1092500	GM12891	blood:	n/a	n/a
12	POLR2A	chr10:1091307-1092464	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
2	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:

Variant related genes	Relation type
RNU7-163P	TF binding region
WDR37	TF binding region
ENSG00000047056	Chromatin interaction
ENSG00000067064	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12569676	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12768746	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12777134	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12782861	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35405102	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3750729	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3793777	0.93[EUR][1000 genomes]
rs3829165	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56289911	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7079726	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7082272	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7923347	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv5532	chr10:1079499-1101700	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv894724	chr10:1084942-1116294	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1060000-1091600	Weak transcription	Hela-S3	cervix
3	chr10:1063200-1092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:1073400-1091800	Weak transcription	Fetal Heart	heart
5	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:1083400-1092000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:1084000-1091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:1084000-1093400	Weak transcription	Aorta	Aorta
9	chr10:1084200-1093400	Weak transcription	Thymus	Thymus
10	chr10:1087000-1092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:1088000-1093400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:1088800-1092000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:1089200-1092800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr10:1089400-1091600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:1089400-1091600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
16	chr10:1089400-1093600	Weak transcription	Fetal Kidney	kidney
17	chr10:1089600-1091600	Enhancers	Fetal Brain Male	brain
18	chr10:1089600-1091600	Weak transcription	Pancreas	Pancrea
19	chr10:1089600-1092200	Weak transcription	Osteobl	bone
20	chr10:1089600-1092600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:1089600-1093600	Weak transcription	Placenta	Placenta
22	chr10:1089800-1091800	Weak transcription	A549	lung
23	chr10:1089800-1092000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:1089800-1092200	Weak transcription	Colonic Mucosa	Colon
25	chr10:1089800-1092200	Weak transcription	Ovary	ovary
26	chr10:1089800-1092200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:1089800-1093400	Weak transcription	Fetal Intestine Small	intestine
28	chr10:1089800-1093400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:1090000-1091600	Weak transcription	Fetal Lung	lung
30	chr10:1090000-1091600	Enhancers	Fetal Muscle Leg	muscle
31	chr10:1090000-1091600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:1090000-1091800	Enhancers	Brain Angular Gyrus	brain
33	chr10:1090000-1092000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:1090000-1092200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:1090000-1092200	Enhancers	Adipose Nuclei	Adipose
36	chr10:1090000-1092200	Weak transcription	Esophagus	oesophagus
37	chr10:1090000-1092600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr10:1090000-1092600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr10:1090000-1093400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:1090000-1093400	Weak transcription	HSMMtube	muscle
41	chr10:1090000-1093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:1090000-1093600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:1090200-1091600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr10:1090200-1091600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr10:1090200-1091600	Enhancers	Small Intestine	intestine
46	chr10:1090200-1092000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:1090200-1092200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr10:1090200-1092400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:1090200-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:1090200-1092600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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