Variant report

Variant	rs58711755
Chromosome Location	chr10:50734783-50734784
allele	C/T
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	TCF12	chr10:50734582-50735502	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr10:50734527-50735167	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr10:50734528-50735120	SK-N-SH	brain:	n/a	chr10:50734843-50734859 chr10:50734843-50734860
4	PBX3	chr10:50734628-50735120	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50729482..50733326-chr10:50734602..50739448,5	K562	blood:

Variant related genes	Relation type
PGBD3	TF binding region
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1130028	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11812473	0.95[EUR][1000 genomes]
rs11815156	0.88[EUR][1000 genomes]
rs11819019	0.97[EUR][1000 genomes]
rs17010079	0.95[EUR][1000 genomes]
rs17719092	0.90[EUR][1000 genomes]
rs17775180	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2228526	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2228527	0.98[EUR][1000 genomes]
rs2228529	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs36079558	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253011	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253028	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253101	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253106	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253121	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253165	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253166	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253193	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56164647	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs58002245	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs58912975	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs59898389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846615	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846616	0.98[EUR][1000 genomes]
rs61846617	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846618	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61846620	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846637	0.89[EUR][1000 genomes]
rs61850971	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61850976	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7073830	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7079192	0.90[EUR][1000 genomes]
rs7093098	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7097122	0.89[EUR][1000 genomes]
rs7097866	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7909222	0.90[EUR][1000 genomes]
rs7920256	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs971667	0.98[AFR][1000 genomes];0.98[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
4	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:50721600-50734800	Weak transcription	A549	lung
7	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
9	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:50723200-50741000	Strong transcription	HMEC	breast
11	chr10:50723200-50741800	Strong transcription	Osteobl	bone
12	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
14	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:50723400-50741600	Strong transcription	NHEK	skin
17	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:50724400-50734800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
20	chr10:50726800-50739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:50727800-50741000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:50727800-50741000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:50727800-50741000	Strong transcription	Adipose Nuclei	Adipose
24	chr10:50727800-50741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:50728200-50741000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr10:50728200-50741400	Strong transcription	HSMM	muscle
27	chr10:50728400-50738600	Strong transcription	Fetal Thymus	thymus
28	chr10:50728400-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:50728400-50741000	Strong transcription	Placenta	Placenta
30	chr10:50728600-50736800	Strong transcription	Fetal Lung	lung
31	chr10:50728600-50736800	Weak transcription	Gastric	stomach
32	chr10:50728600-50740600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:50728600-50741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:50728800-50741000	Strong transcription	Dnd41	blood
35	chr10:50728800-50742000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
37	chr10:50729200-50738600	Strong transcription	Fetal Muscle Leg	muscle
38	chr10:50729200-50741400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr10:50729200-50742400	Strong transcription	Hela-S3	cervix
40	chr10:50729600-50740000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:50730000-50737400	Weak transcription	Right Atrium	heart
42	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:50730600-50741000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr10:50730600-50741200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:50730800-50735000	Strong transcription	GM12878-XiMat	blood
46	chr10:50730800-50741000	Strong transcription	Ovary	ovary
47	chr10:50730800-50741400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr10:50731000-50738600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr10:50731000-50740400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:50731000-50741400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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