Variant report

Variant	rs10413769
Chromosome Location	chr19:18485823-18485824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
2	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:
3	chr19:18449115..18453939-chr19:18483257..18487784,7	K562	blood:
4	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
5	chr19:18474428..18476480-chr19:18485604..18487652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130517	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10416210	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57573498	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18482400-18488800	Enhancers	Fetal Intestine Large	intestine
2	chr19:18482800-18488600	Enhancers	Fetal Intestine Small	intestine
3	chr19:18483000-18486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr19:18483000-18486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18483200-18486000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:18483200-18486000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:18483200-18486800	Enhancers	Placenta	Placenta
8	chr19:18483400-18486000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr19:18483400-18486000	Enhancers	Fetal Muscle Trunk	muscle
10	chr19:18483400-18486000	Enhancers	Fetal Muscle Leg	muscle
11	chr19:18483400-18486000	Enhancers	HUVEC	blood vessel
12	chr19:18483400-18486400	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:18483400-18486400	Enhancers	A549	lung
14	chr19:18483400-18486600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:18483400-18486600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:18483400-18487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:18483600-18486800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:18483600-18491000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:18484200-18486200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:18484200-18486800	Enhancers	Primary B cells from cord blood	blood
21	chr19:18484400-18486000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:18484400-18486000	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:18484400-18486000	Enhancers	Fetal Thymus	thymus
24	chr19:18484400-18486000	Enhancers	Small Intestine	intestine
25	chr19:18484400-18486000	Enhancers	Stomach Mucosa	stomach
26	chr19:18484400-18486000	Enhancers	HSMM	muscle
27	chr19:18484400-18486400	Enhancers	Fetal Kidney	kidney
28	chr19:18484400-18486400	Enhancers	NHLF	lung
29	chr19:18484400-18486600	Enhancers	Pancreas	Pancrea
30	chr19:18484400-18486600	Enhancers	Spleen	Spleen
31	chr19:18484400-18487200	Flanking Active TSS	K562	blood
32	chr19:18484600-18486000	Enhancers	Brain Substantia Nigra	brain
33	chr19:18484600-18486000	Enhancers	Ovary	ovary
34	chr19:18484600-18486000	Flanking Active TSS	Hela-S3	cervix
35	chr19:18484800-18486000	Enhancers	Left Ventricle	heart
36	chr19:18485000-18486200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:18485200-18486000	Enhancers	Colon Smooth Muscle	Colon
38	chr19:18485200-18486200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:18485200-18486400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr19:18485200-18486600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr19:18485200-18486600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr19:18485200-18486800	Weak transcription	Aorta	Aorta
43	chr19:18485200-18487400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr19:18485200-18488800	Weak transcription	Gastric	stomach
45	chr19:18485200-18490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr19:18485200-18491200	Weak transcription	Psoas Muscle	Psoas
47	chr19:18485400-18486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18485400-18486200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:18485400-18486400	Enhancers	Duodenum Mucosa	Duodenum
50	chr19:18485400-18486400	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links