Variant report

Variant	rs72997346
Chromosome Location	chr19:18762865-18762866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18699707..18701555-chr19:18761559..18763560,2	MCF-7	breast:
2	chr19:18570477..18573833-chr19:18762488..18765349,3	K562	blood:
3	chr19:18755921..18758838-chr19:18761971..18763862,2	K562	blood:
4	chr19:18723523..18726330-chr19:18762197..18764548,2	K562	blood:

Variant related genes	Relation type
ENSG00000105696	Chromatin interaction
ENSG00000006015	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10424149	0.81[ASN][1000 genomes]
rs11665980	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667450	0.97[ASN][1000 genomes]
rs11668413	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670024	1.00[AFR][1000 genomes]
rs11670437	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11672177	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12972147	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35212572	1.00[AFR][1000 genomes]
rs35322184	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs36070283	1.00[AFR][1000 genomes]
rs3752217	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752218	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764628	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61248595	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66840797	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66969630	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074367	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72997355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs752981	0.91[AMR][1000 genomes];0.97[EUR][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18748600-18774400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:18749200-18768200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18749200-18778400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:18749400-18774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr19:18755800-18764000	Enhancers	Right Ventricle	heart
6	chr19:18755800-18766600	Weak transcription	HepG2	liver
7	chr19:18756400-18778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:18758800-18763000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:18758800-18763000	Enhancers	Placenta	Placenta
10	chr19:18759200-18763000	Enhancers	Fetal Thymus	thymus
11	chr19:18759400-18776200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:18759600-18763200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:18759800-18778400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:18760000-18770000	Weak transcription	Gastric	stomach
15	chr19:18760000-18770000	Weak transcription	Stomach Mucosa	stomach
16	chr19:18760200-18775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:18760400-18774000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:18760600-18774800	Weak transcription	Thymus	Thymus
20	chr19:18760800-18763200	Enhancers	HMEC	breast
21	chr19:18760800-18763600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:18760800-18764200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:18760800-18765200	Weak transcription	Fetal Brain Female	brain
24	chr19:18760800-18776200	Weak transcription	Liver	Liver
25	chr19:18760800-18778400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:18761000-18767200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:18761000-18767800	Weak transcription	GM12878-XiMat	blood
28	chr19:18761200-18763000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:18761200-18763000	Enhancers	Ovary	ovary
30	chr19:18761200-18763000	Enhancers	NHDF-Ad	bronchial
31	chr19:18761200-18763200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:18761200-18768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:18761200-18768000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:18761200-18769600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:18761400-18763000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:18761400-18766200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:18761600-18764000	Enhancers	Fetal Muscle Leg	muscle
38	chr19:18761600-18764200	Strong transcription	Fetal Intestine Small	intestine
39	chr19:18761600-18769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:18761800-18763000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:18761800-18763000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr19:18761800-18763000	Enhancers	Left Ventricle	heart
43	chr19:18761800-18768000	Weak transcription	Fetal Intestine Large	intestine
44	chr19:18762000-18763000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr19:18762000-18763000	Enhancers	Adipose Nuclei	Adipose
46	chr19:18762000-18763200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:18762000-18764000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:18762000-18764000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:18762000-18765400	Weak transcription	Fetal Kidney	kidney
50	chr19:18762000-18766800	Weak transcription	Brain Inferior Temporal Lobe	brain

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