Variant report

Variant	rs10414253
Chromosome Location	chr19:38678410-38678411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2569413	0.86[EUR][1000 genomes]
rs332841	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332852	0.83[ASN][1000 genomes]
rs332854	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62123462	0.84[EUR][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

No data

Chromatin state (count:113 , 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	chr19:38661400-38682600	Weak transcription	Aorta	Aorta
6	chr19:38661800-38682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:38664600-38688600	Weak transcription	NH-A	brain
8	chr19:38664600-38699800	Weak transcription	Brain Substantia Nigra	brain
9	chr19:38665000-38684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:38665200-38684200	Weak transcription	HMEC	breast
11	chr19:38666200-38682800	Weak transcription	Right Ventricle	heart
12	chr19:38671200-38684400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:38671200-38691800	Weak transcription	Brain Angular Gyrus	brain
14	chr19:38671800-38692400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:38671800-38695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:38672200-38692800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr19:38672600-38699800	Weak transcription	HUVEC	blood vessel
18	chr19:38672800-38693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:38673800-38682800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:38673800-38688800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:38674400-38682800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:38674400-38696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:38674600-38681800	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:38674600-38691600	Weak transcription	Psoas Muscle	Psoas
25	chr19:38674600-38696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:38674600-38698600	Strong transcription	Fetal Intestine Small	intestine
27	chr19:38674800-38686000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:38674800-38689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:38674800-38689000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:38674800-38692200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:38674800-38692400	Weak transcription	Fetal Brain Male	brain
32	chr19:38674800-38696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:38674800-38696800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:38674800-38697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:38674800-38699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:38674800-38699000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:38674800-38700400	Weak transcription	Fetal Kidney	kidney
38	chr19:38675000-38692800	Weak transcription	Fetal Lung	lung
39	chr19:38675400-38684200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:38675400-38684400	Weak transcription	Brain Germinal Matrix	brain
41	chr19:38675400-38700200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:38675600-38686600	Weak transcription	Brain Anterior Caudate	brain
43	chr19:38675600-38691800	Weak transcription	Placenta	Placenta
44	chr19:38675600-38696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:38675800-38689000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:38675800-38689000	Weak transcription	Fetal Brain Female	brain
47	chr19:38675800-38694600	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:38676000-38682400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:38676000-38682400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:38676000-38682600	Weak transcription	Esophagus	oesophagus

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