Variant report

Variant	rs73031739
Chromosome Location	chr19:35804725-35804726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35778338..35780262-chr19:35804621..35807184,2	MCF-7	breast:
2	chr19:35788326..35791177-chr19:35803354..35807024,3	MCF-7	breast:
3	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
4	chr19:35760524..35761090-chr19:35804405..35805080,2	MCF-7	breast:
5	chr19:35762096..35762857-chr19:35804524..35805135,2	MCF-7	breast:
6	chr19:35757351..35762248-chr19:35804679..35808319,5	MCF-7	breast:
7	chr19:35801834..35808584-chr19:35810190..35813576,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105698	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10418687	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879566	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12185485	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974994	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505365	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35052289	0.86[ASN][1000 genomes]
rs3746248	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv9711	chr19:35797190-35805196	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
10	esv1006379	chr19:35798572-35810821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35794400-35810000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35797800-35809600	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35798200-35811400	Weak transcription	Liver	Liver
5	chr19:35800800-35805200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:35800800-35806600	Enhancers	HepG2	liver
7	chr19:35801000-35809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:35801400-35804800	Strong transcription	Brain Hippocampus Middle	brain
9	chr19:35801600-35805200	Enhancers	K562	blood
10	chr19:35803000-35808600	Weak transcription	Fetal Thymus	thymus
11	chr19:35803200-35806000	Weak transcription	Brain Substantia Nigra	brain
12	chr19:35803200-35808200	Weak transcription	Brain Anterior Caudate	brain
13	chr19:35803200-35808400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:35803200-35809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:35803200-35809600	Weak transcription	Fetal Lung	lung
16	chr19:35803400-35809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:35803400-35809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:35803800-35805000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr19:35804000-35804800	Enhancers	Primary B cells from cord blood	blood
20	chr19:35804000-35804800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:35804000-35805200	Enhancers	HMEC	breast
22	chr19:35804000-35805400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:35804200-35804800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:35804200-35804800	Bivalent Enhancer	Placenta	Placenta
25	chr19:35804200-35805000	Enhancers	Primary hematopoietic stem cells	blood
26	chr19:35804200-35805000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:35804200-35805000	Enhancers	Spleen	Spleen
28	chr19:35804200-35805200	Genic enhancers	Ovary	ovary
29	chr19:35804200-35809800	Weak transcription	Fetal Kidney	kidney
30	chr19:35804200-35811000	Enhancers	Primary B cells from peripheral blood	blood
31	chr19:35804400-35804800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:35804400-35805000	Flanking Active TSS	Hela-S3	cervix
33	chr19:35804400-35805000	Enhancers	NHEK	skin
34	chr19:35804400-35805200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:35804600-35805200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:35804600-35805200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr19:35804600-35809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:35804600-35809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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