Variant report

Variant	rs73573160
Chromosome Location	chr19:52634008-52634009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52632666..52634991-chr19:52642095..52643875,2	K562	blood:
2	chr19:52633223..52639825-chr19:52641959..52644424,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204611	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10084117	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084143	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45591734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035736	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407993	0.82[AFR][1000 genomes]
rs58300880	0.82[AFR][1000 genomes]
rs59886380	0.82[AFR][1000 genomes]
rs73571268	1.00[ASN][1000 genomes]
rs73571273	0.91[AFR][1000 genomes]
rs73934986	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73934988	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749618	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3433050	chr19:52595705-52639973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52606800-52640200	ZNF genes & repeats	Liver	Liver
2	chr19:52609800-52639000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:52609800-52640200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:52613600-52639000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:52615200-52640200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:52615600-52640200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:52616200-52634200	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr19:52616200-52640000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:52616200-52641200	ZNF genes & repeats	Dnd41	blood
10	chr19:52616200-52641400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:52616200-52641600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:52616400-52641400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:52617000-52640200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:52617200-52640200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:52617400-52634200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:52617400-52641400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:52617800-52635600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr19:52618000-52640200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:52618400-52635000	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr19:52624200-52634400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr19:52624200-52640200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr19:52625000-52634200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:52625400-52635800	ZNF genes & repeats	Lung	lung
24	chr19:52626600-52634800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:52626600-52640400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:52627200-52640200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:52628800-52639800	ZNF genes & repeats	Fetal Stomach	stomach
28	chr19:52628800-52641400	Weak transcription	Brain Substantia Nigra	brain
29	chr19:52629000-52641200	Weak transcription	Right Ventricle	heart
30	chr19:52629200-52640800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:52629400-52641200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:52629400-52641600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:52629600-52641800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:52629800-52634200	Strong transcription	Left Ventricle	heart
35	chr19:52629800-52641200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:52630600-52634200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr19:52630600-52634400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:52630600-52634800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:52630600-52640200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:52630600-52640200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:52631000-52634600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:52631000-52636200	ZNF genes & repeats	Thymus	Thymus
43	chr19:52631000-52640800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:52631200-52636000	ZNF genes & repeats	Esophagus	oesophagus
45	chr19:52631400-52634200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:52631400-52634400	Strong transcription	Fetal Lung	lung
47	chr19:52631400-52636000	Weak transcription	Fetal Brain Male	brain
48	chr19:52631400-52641200	Weak transcription	K562	blood
49	chr19:52631600-52638800	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr19:52632000-52635600	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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