Variant report

Variant	rs10735822
Chromosome Location	chr12:50507243-50507244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50506553..50508392-chr12:50677270..50679374,2	K562	blood:
2	chr12:50506976..50509315-chr12:50512886..50514757,3	K562	blood:
3	chr12:50504921..50507290-chr12:50793420..50795913,2	K562	blood:
4	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:
5	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
6	chr12:50504921..50507362-chr12:50794413..50796105,2	K562	blood:
7	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
8	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
9	chr12:50504059..50507401-chr12:50559290..50562708,7	K562	blood:
10	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
11	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
12	chr12:50471491..50474468-chr12:50505629..50507284,2	K562	blood:
13	chr12:50506379..50508104-chr12:50510403..50512251,3	K562	blood:
14	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:
15	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066117	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735823	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10747571	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783334	0.86[EUR][1000 genomes]
rs10783336	0.84[EUR][1000 genomes]
rs10783339	0.82[EUR][1000 genomes]
rs10875999	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876001	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876002	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876006	0.83[EUR][1000 genomes]
rs10876007	0.82[EUR][1000 genomes]
rs11169275	0.84[EUR][1000 genomes]
rs11169283	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169284	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169285	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12229758	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17124448	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008537	0.90[EUR][1000 genomes]
rs2242507	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277355	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55639096	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56151073	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131794	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7297864	0.83[EUR][1000 genomes]
rs7306213	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314598	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7316344	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7486874	0.80[EUR][1000 genomes]
rs7953174	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription 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 miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50505200-50507400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:50505200-50507400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:50505200-50507400	Active TSS	Brain Anterior Caudate	brain
4	chr12:50505200-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:50505200-50507600	Active TSS	K562	blood
6	chr12:50505200-50507800	Active TSS	GM12878-XiMat	blood
7	chr12:50505400-50507600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:50505400-50507600	Active TSS	Hela-S3	cervix
9	chr12:50505600-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50505800-50507400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:50506400-50507400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:50506600-50507400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:50506600-50507800	Weak transcription	Spleen	Spleen
14	chr12:50506800-50507600	Weak transcription	Small Intestine	intestine
15	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:50507000-50507400	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:50507000-50507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:50507000-50507600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:50507000-50507600	Weak transcription	Aorta	Aorta
21	chr12:50507000-50507600	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:50507000-50507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:50507000-50507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:50507000-50507800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:50507000-50507800	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:50507000-50507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:50507000-50507800	Weak transcription	Brain Angular Gyrus	brain
28	chr12:50507000-50507800	Weak transcription	Lung	lung
29	chr12:50507000-50507800	Weak transcription	Ovary	ovary
30	chr12:50507000-50507800	Weak transcription	Pancreas	Pancrea
31	chr12:50507000-50507800	Weak transcription	Psoas Muscle	Psoas
32	chr12:50507000-50508000	Enhancers	Primary T cells from cord blood	blood
33	chr12:50507000-50508000	Enhancers	Fetal Muscle Leg	muscle
34	chr12:50507000-50508200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:50507000-50508200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:50507000-50508200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:50507000-50508200	Weak transcription	Fetal Stomach	stomach
38	chr12:50507000-50508400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:50507000-50508400	Enhancers	Fetal Thymus	thymus
40	chr12:50507000-50508400	Enhancers	Left Ventricle	heart
41	chr12:50507000-50508600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:50507000-50508800	Enhancers	Adipose Nuclei	Adipose
43	chr12:50507000-50509200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:50507000-50509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:50507000-50509200	Weak transcription	Gastric	stomach
46	chr12:50507000-50509400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:50507000-50510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:50507000-50510200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:50507000-50510400	Weak transcription	HSMMtube	muscle
50	chr12:50507000-50513000	Weak transcription	Esophagus	oesophagus

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