Variant report

Variant	rs7256332
Chromosome Location	chr19:38683810-38683811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38673408..38676261-chr19:38682853..38685323,2	K562	blood:

Variant related genes	Relation type
ENSG00000269653	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10401165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403716	0.85[ASN][1000 genomes]
rs10412762	0.85[ASN][1000 genomes]
rs10412865	0.85[ASN][1000 genomes]
rs10420506	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10422665	0.82[ASN][1000 genomes]
rs11083448	0.83[EUR][1000 genomes]
rs2082442	0.85[ASN][1000 genomes]
rs2082443	0.85[ASN][1000 genomes]
rs28444246	0.93[EUR][1000 genomes]
rs28495744	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28581256	0.82[ASN][1000 genomes]
rs4802247	0.84[ASN][1000 genomes]
rs4802256	0.85[ASN][1000 genomes]
rs4802278	0.83[EUR][1000 genomes]
rs4803809	0.85[ASN][1000 genomes]
rs4803810	0.85[ASN][1000 genomes]
rs4803828	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803829	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6508767	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7245788	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7248428	0.82[ASN][1000 genomes]
rs7250034	0.85[ASN][1000 genomes]
rs73627654	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73627663	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73627676	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73627686	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73930553	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9941456	0.85[ASN][1000 genomes]
rs9941467	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7256332	SIPA1L3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
2	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:38658400-38684800	Weak transcription	HepG2	liver
4	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:38664600-38688600	Weak transcription	NH-A	brain
6	chr19:38664600-38699800	Weak transcription	Brain Substantia Nigra	brain
7	chr19:38665000-38684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:38665200-38684200	Weak transcription	HMEC	breast
9	chr19:38671200-38684400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:38671200-38691800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:38671800-38692400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:38671800-38695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:38672200-38692800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr19:38672600-38699800	Weak transcription	HUVEC	blood vessel
15	chr19:38672800-38693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:38673800-38688800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:38674400-38696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:38674600-38691600	Weak transcription	Psoas Muscle	Psoas
19	chr19:38674600-38696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:38674600-38698600	Strong transcription	Fetal Intestine Small	intestine
21	chr19:38674800-38686000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:38674800-38689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:38674800-38689000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:38674800-38692200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:38674800-38692400	Weak transcription	Fetal Brain Male	brain
26	chr19:38674800-38696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:38674800-38696800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:38674800-38697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:38674800-38699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:38674800-38699000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:38674800-38700400	Weak transcription	Fetal Kidney	kidney
32	chr19:38675000-38692800	Weak transcription	Fetal Lung	lung
33	chr19:38675400-38684200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:38675400-38684400	Weak transcription	Brain Germinal Matrix	brain
35	chr19:38675400-38700200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:38675600-38686600	Weak transcription	Brain Anterior Caudate	brain
37	chr19:38675600-38691800	Weak transcription	Placenta	Placenta
38	chr19:38675600-38696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:38675800-38689000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:38675800-38689000	Weak transcription	Fetal Brain Female	brain
41	chr19:38675800-38694600	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:38676000-38699800	Weak transcription	Right Atrium	heart
43	chr19:38676400-38693600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:38676600-38684400	Weak transcription	Stomach Mucosa	stomach
45	chr19:38676600-38686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:38676600-38688800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:38676800-38684200	Weak transcription	NHLF	lung
48	chr19:38676800-38684600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:38676800-38686800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:38676800-38688800	Weak transcription	Primary T cells from cord blood	blood

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