Variant report

Variant	rs10407850
Chromosome Location	chr19:36713456-36713457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36711072..36713184-chr19:36713372..36715798,2	K562	blood:
2	chr19:36703714..36707271-chr19:36711666..36715110,4	MCF-7	breast:
3	chr19:36713025..36717797-chr19:36719610..36723880,4	K562	blood:

Variant related genes	Relation type
ENSG00000196357	Chromatin interaction
ENSG00000167635	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10403738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407835	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412832	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416742	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425166	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882933	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459704	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460466	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461077	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461855	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12462725	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs17206379	0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs2271842	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs28414272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528757	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2857	0.82[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs2945955	0.90[CHB][hapmap]
rs2945989	0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs3098393	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs4361039	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806293	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806294	0.91[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806295	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56206115	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56316708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57385903	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57734651	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59026641	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59295196	0.96[ASN][1000 genomes]
rs61413061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113093	0.86[EUR][1000 genomes]
rs62113146	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62113148	0.83[ASN][1000 genomes]
rs7251745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038028	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73040107	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73040113	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8106135	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10407850	ZFP14	cis	lymphoblastoid	seeQTL
rs10407850	ZNF781	cis	cerebellum	SCAN
rs10407850	LINC00665	cis	Muscle Skeletal	GTEx
rs10407850	CTD-3162L10.1	cis	Muscle Skeletal	GTEx
rs10407850	MEGF8	cis	cerebellum	SCAN
rs10407850	ZNF222	cis	parietal	SCAN
rs10407850	ZNF527	cis	cerebellum	SCAN
rs10407850	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36706800-36716400	Weak transcription	Aorta	Aorta
2	chr19:36707000-36716200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:36707800-36716400	Weak transcription	Right Ventricle	heart
7	chr19:36707800-36717000	Weak transcription	HSMMtube	muscle
8	chr19:36708000-36714000	Genic enhancers	Dnd41	blood
9	chr19:36708000-36715000	Weak transcription	NHLF	lung
10	chr19:36708000-36716400	Weak transcription	Psoas Muscle	Psoas
11	chr19:36708000-36716800	Weak transcription	Pancreas	Pancrea
12	chr19:36708000-36719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:36708200-36715000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:36708400-36713800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:36708400-36715400	Weak transcription	Fetal Heart	heart
17	chr19:36708400-36716400	Weak transcription	Spleen	Spleen
18	chr19:36709000-36715400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:36709000-36723000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr19:36709200-36716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:36709200-36716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:36709400-36715200	Strong transcription	Fetal Lung	lung
25	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:36709800-36714000	Strong transcription	Placenta	Placenta
27	chr19:36710000-36714000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr19:36710000-36714000	Strong transcription	Osteobl	bone
29	chr19:36710000-36715000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:36710000-36715000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:36710000-36715200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:36710000-36716000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
35	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:36710200-36713600	Strong transcription	HUVEC	blood vessel
37	chr19:36710200-36720600	Strong transcription	Fetal Thymus	thymus
38	chr19:36710400-36714000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:36710400-36714400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:36710400-36715400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:36710800-36714400	Strong transcription	Adipose Nuclei	Adipose
42	chr19:36710800-36719000	Weak transcription	Fetal Brain Male	brain
43	chr19:36710800-36719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:36710800-36721800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:36710800-36723200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:36711000-36713600	Strong transcription	Primary T cells from cord blood	blood
47	chr19:36711000-36713800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:36711000-36714000	Strong transcription	Hela-S3	cervix
49	chr19:36711000-36714000	Strong transcription	HMEC	breast
50	chr19:36711000-36714600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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