Variant report

Variant	rs9917071
Chromosome Location	chr19:18630565-18630566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18576760..18579549-chr19:18629981..18632725,2	K562	blood:
2	chr19:18629832..18635572-chr19:18680910..18686315,11	K562	blood:
3	chr19:18391161..18393749-chr19:18629899..18632279,2	K562	blood:
4	chr19:18627652..18630602-chr19:18688456..18690263,2	K562	blood:
5	chr19:18607639..18609981-chr19:18628770..18631366,2	K562	blood:
6	chr19:18630460..18632741-chr19:18969591..18971985,2	K562	blood:
7	chr19:18630375..18633112-chr19:18747617..18750132,3	K562	blood:
8	chr19:18629748..18634724-chr19:18652806..18658264,15	K562	blood:
9	chr19:18612893..18615470-chr19:18630495..18632321,2	MCF-7	breast:
10	chr19:18629832..18634516-chr19:18680910..18685097,11	K562	blood:
11	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:
12	chr19:18629959..18634840-chr19:18652830..18656407,13	K562	blood:
13	chr19:18628801..18634367-chr19:18680492..18684131,12	MCF-7	breast:
14	chr19:18606497..18609266-chr19:18627874..18630589,2	MCF-7	breast:
15	chr19:18629894..18632720-chr19:18792259..18794365,2	K562	blood:
16	chr19:18629458..18632220-chr19:18675761..18678411,2	K562	blood:
17	chr19:18630485..18634839-chr19:18666846..18671916,7	MCF-7	breast:
18	chr19:18629422..18634718-chr19:18699285..18702887,8	K562	blood:
19	chr19:18630548..18633267-chr19:18667345..18670044,3	K562	blood:
20	chr19:18629876..18632922-chr19:18647804..18650314,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105700	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10409117	1.00[EUR][1000 genomes]
rs10409185	1.00[EUR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10420179	1.00[EUR][1000 genomes]
rs28379803	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs73535835	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18600400-18630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:18613800-18631000	Weak transcription	Fetal Brain Female	brain
3	chr19:18618800-18630800	Weak transcription	Thymus	Thymus
4	chr19:18618800-18631000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr19:18620200-18630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:18623600-18631000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:18623800-18631000	Enhancers	Fetal Intestine Large	intestine
8	chr19:18624200-18630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18626000-18630800	Weak transcription	Brain Germinal Matrix	brain
10	chr19:18626000-18631200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:18626200-18630800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:18626200-18630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:18626200-18630800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:18626200-18631000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:18626400-18630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:18626400-18630800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:18626400-18630800	Enhancers	Duodenum Mucosa	Duodenum
18	chr19:18626600-18630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:18626600-18631000	Weak transcription	Ovary	ovary
20	chr19:18626800-18630600	Weak transcription	Aorta	Aorta
21	chr19:18626800-18630600	Weak transcription	Fetal Lung	lung
22	chr19:18626800-18630800	Weak transcription	Brain Angular Gyrus	brain
23	chr19:18627000-18630600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:18627000-18630600	Weak transcription	A549	lung
25	chr19:18627200-18630600	Weak transcription	Brain Anterior Caudate	brain
26	chr19:18627200-18630600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:18627400-18630800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18627400-18630800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:18627600-18630600	Weak transcription	Fetal Thymus	thymus
30	chr19:18627600-18630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:18627600-18630800	Enhancers	Placenta	Placenta
32	chr19:18627800-18630600	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:18627800-18630600	Weak transcription	Fetal Stomach	stomach
34	chr19:18627800-18630800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:18628000-18630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:18628000-18630600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:18628000-18630600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:18628000-18630600	Weak transcription	Fetal Heart	heart
39	chr19:18628000-18630600	Weak transcription	Right Ventricle	heart
40	chr19:18628000-18630800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:18628000-18630800	Weak transcription	Lung	lung
42	chr19:18628000-18631200	Weak transcription	Gastric	stomach
43	chr19:18628200-18630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:18628600-18630600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:18628800-18631000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:18628800-18631000	Enhancers	Liver	Liver
47	chr19:18629000-18630600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:18629000-18630800	Weak transcription	Spleen	Spleen
49	chr19:18629000-18631000	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:18629000-18631000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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