Variant report

Variant	rs66969630
Chromosome Location	chr19:18759779-18759780
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18713980..18716446-chr19:18757354..18760125,2	K562	blood:
2	chr19:18757758..18761197-chr19:18765478..18769110,5	MCF-7	breast:
3	chr19:18758073..18760878-chr19:18781482..18783635,2	K562	blood:
4	chr19:18716960..18718504-chr19:18758671..18760840,2	MCF-7	breast:
5	chr19:18722195..18724097-chr19:18759518..18761356,2	K562	blood:
6	chr19:18752753..18754292-chr19:18759616..18761597,2	K562	blood:
7	chr19:18759533..18761540-chr19:18773488..18775282,2	K562	blood:
8	chr19:18759439..18761865-chr19:18767134..18771094,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006016	Chromatin interaction
ENSG00000105696	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10424149	0.81[ASN][1000 genomes]
rs11665980	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11667450	0.97[ASN][1000 genomes]
rs11668413	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11670437	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11672177	0.90[ASN][1000 genomes]
rs12972147	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35322184	0.90[ASN][1000 genomes]
rs3752217	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752218	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764628	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61248595	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66840797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074367	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72997346	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997355	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs752981	0.92[AMR][1000 genomes];0.95[ASN][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	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
2	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
3	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
4	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
5	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv1849639	chr19:18747006-18780799	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18748400-18761600	Weak transcription	Aorta	Aorta
2	chr19:18748600-18774400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:18749200-18759800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:18749200-18768200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:18749200-18778400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:18749400-18759800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:18749400-18760000	Weak transcription	Fetal Brain Female	brain
8	chr19:18749400-18762200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:18749400-18774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:18749600-18759800	Weak transcription	Primary T cells from cord blood	blood
11	chr19:18749800-18760800	Weak transcription	Dnd41	blood
12	chr19:18754800-18760000	Enhancers	Brain Substantia Nigra	brain
13	chr19:18755400-18760000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:18755600-18762200	Weak transcription	NHEK	skin
15	chr19:18755800-18760000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:18755800-18764000	Enhancers	Right Ventricle	heart
17	chr19:18755800-18766600	Weak transcription	HepG2	liver
18	chr19:18756000-18759800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:18756000-18760200	Weak transcription	Fetal Brain Male	brain
20	chr19:18756200-18759800	Enhancers	Brain Hippocampus Middle	brain
21	chr19:18756200-18760000	Weak transcription	Brain Germinal Matrix	brain
22	chr19:18756400-18778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:18756600-18760000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:18756800-18760000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:18756800-18760000	Enhancers	Brain Anterior Caudate	brain
26	chr19:18757200-18760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:18757400-18760200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18757400-18762000	Enhancers	Fetal Kidney	kidney
29	chr19:18757800-18760000	Enhancers	Fetal Muscle Leg	muscle
30	chr19:18758000-18762800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:18758200-18760000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:18758400-18760000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:18758400-18760200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:18758400-18760200	Enhancers	Brain Cingulate Gyrus	brain
35	chr19:18758400-18760400	Enhancers	Right Atrium	heart
36	chr19:18758400-18762600	Enhancers	Fetal Heart	heart
37	chr19:18758600-18759800	Enhancers	Adipose Nuclei	Adipose
38	chr19:18758600-18760000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:18758600-18760000	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:18758600-18760200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:18758600-18760200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:18758600-18760400	Enhancers	Left Ventricle	heart
43	chr19:18758800-18759800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:18758800-18762200	Weak transcription	K562	blood
45	chr19:18758800-18762800	Genic enhancers	Fetal Stomach	stomach
46	chr19:18758800-18763000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr19:18758800-18763000	Enhancers	Placenta	Placenta
48	chr19:18759000-18761600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:18759200-18759800	Enhancers	Primary B cells from cord blood	blood
50	chr19:18759200-18759800	Enhancers	Duodenum Mucosa	Duodenum

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