Variant report

Variant	rs251914
Chromosome Location	chr19:39811302-39811303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39341602..39344396-chr19:39810637..39813386,2	K562	blood:
2	chr19:39684826..39687710-chr19:39809011..39811329,2	K562	blood:
3	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179134	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000188505	Chromatin interaction
ENSG00000269246	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs251903	0.86[EUR][1000 genomes]
rs30477	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs30480	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39587	0.82[EUR][1000 genomes]
rs67145382	0.88[EUR][1000 genomes]
rs8108034	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv3373441	chr19:39810537-39813085	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3429395	chr19:39810562-39812810	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3354847	chr19:39810812-39812410	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr19:39809800-39812000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:39809800-39812200	Active TSS	Brain Cingulate Gyrus	brain
3	chr19:39810000-39812000	Active TSS	Brain Anterior Caudate	brain
4	chr19:39810200-39812200	Active TSS	Fetal Kidney	kidney
5	chr19:39810400-39811400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:39810400-39811400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:39810400-39811400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:39810400-39811800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:39810400-39812000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:39810400-39812000	Active TSS	Brain Angular Gyrus	brain
11	chr19:39810400-39812000	Enhancers	Placenta	Placenta
12	chr19:39810400-39812200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr19:39810400-39812200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:39810400-39812200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:39810600-39811400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:39810600-39811400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr19:39810600-39811400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:39810600-39811400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:39810600-39811400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:39810600-39811400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr19:39810600-39811800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:39810600-39811800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:39810600-39811800	Active TSS	K562	blood
24	chr19:39810600-39812000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:39810600-39812000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:39810600-39812000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr19:39810600-39812000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:39810600-39812000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:39810600-39812200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:39810600-39812200	Active TSS	Fetal Brain Female	brain
31	chr19:39810800-39811400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:39810800-39811400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:39810800-39811400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr19:39810800-39811400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr19:39810800-39811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:39810800-39811400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr19:39810800-39811400	Active TSS	Colon Smooth Muscle	Colon
38	chr19:39810800-39811400	Flanking Active TSS	HMEC	breast
39	chr19:39810800-39811400	Active TSS	NH-A	brain
40	chr19:39810800-39811400	Bivalent/Poised TSS	Osteobl	bone
41	chr19:39810800-39811600	Bivalent/Poised TSS	HSMM	muscle
42	chr19:39810800-39812000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:39811000-39811400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:39811000-39811400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:39811000-39811400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:39811000-39811400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:39811000-39811400	Flanking Active TSS	Liver	Liver
48	chr19:39811000-39811400	Active TSS	Gastric	stomach
49	chr19:39811000-39811400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:39811000-39811400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links