Variant report

Variant	rs10402050
Chromosome Location	chr19:37688958-37688959
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10401525	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10404069	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10405372	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10406612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10407224	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10410905	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10411176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10413304	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10414983	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10417545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10418314	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419174	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10422428	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10424841	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10425441	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10426093	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11084873	0.84[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12972146	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12975869	0.85[EUR][1000 genomes]
rs12978093	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12983153	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28462002	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28660259	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28701616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34915391	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35522655	0.81[ASN][1000 genomes]
rs4473303	0.87[ASN][1000 genomes]
rs4805198	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4805207	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4805208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806406	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4806414	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62108899	0.84[ASN][1000 genomes]
rs8101338	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8111936	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8112011	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking 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	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10402050	ZNF793	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:37680800-37689800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:37680800-37695000	Weak transcription	HSMM	muscle
7	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:37681000-37690800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:37681000-37695800	Weak transcription	NH-A	brain
11	chr19:37681000-37695800	Weak transcription	NHLF	lung
12	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
13	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
14	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
15	chr19:37681200-37696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:37681600-37690600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:37682800-37689200	Weak transcription	Right Ventricle	heart
18	chr19:37683200-37695200	Weak transcription	Brain Substantia Nigra	brain
19	chr19:37683400-37690000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:37683400-37697400	Weak transcription	Fetal Brain Male	brain
21	chr19:37684600-37689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:37684800-37690000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:37684800-37690200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:37685000-37689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:37685200-37689800	Weak transcription	Fetal Brain Female	brain
26	chr19:37685400-37689000	Weak transcription	Fetal Stomach	stomach
27	chr19:37685400-37689200	Weak transcription	Aorta	Aorta
28	chr19:37685800-37690000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:37686800-37690800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:37686800-37690800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:37686800-37696600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:37686800-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:37687200-37689200	Strong transcription	Ovary	ovary
35	chr19:37687200-37690800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:37687400-37689600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:37687400-37690000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:37687400-37690600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:37687400-37690600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:37687400-37692200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:37687400-37696000	Weak transcription	NHEK	skin
42	chr19:37687600-37689200	Weak transcription	Pancreas	Pancrea
43	chr19:37687600-37690600	Strong transcription	Fetal Muscle Leg	muscle
44	chr19:37687600-37690600	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr19:37687600-37698400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:37687800-37689200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:37687800-37690600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:37688000-37689200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:37688000-37689200	Weak transcription	Fetal Intestine Small	intestine
50	chr19:37688000-37690000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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