Variant report

Variant	rs73559635
Chromosome Location	chr19:40918951-40918952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:40918939-40919447	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr19:40918843-40919201	K562	blood:	n/a	n/a
3	POLR2A	chr19:40918811-40919630	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr19:40918885-40919149	K562	blood:	n/a	n/a
5	RCOR1	chr19:40918848-40919131	K562	blood:	n/a	n/a
6	CREB1	chr19:40918894-40919684	H1-hESC	embryonic stem cell:	n/a	chr19:40919366-40919379 chr19:40919366-40919379

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40911341..40916843-chr19:40917541..40922029,6	MCF-7	breast:

Variant related genes	Relation type
PRX	TF binding region
ENSG00000105227	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10408405	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412156	1.00[EUR][1000 genomes]
rs10422945	1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345497	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346024	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28679850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs59129285	1.00[EUR][1000 genomes]
rs60115762	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs73559625	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559626	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933256	1.00[EUR][1000 genomes]
rs73933258	1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933270	1.00[EUR][1000 genomes]
rs73933276	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40910200-40919000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr19:40910200-40926800	Weak transcription	Gastric	stomach
3	chr19:40910600-40921000	Weak transcription	Fetal Kidney	kidney
4	chr19:40910600-40922800	Weak transcription	Fetal Thymus	thymus
5	chr19:40914200-40919400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:40914400-40922800	Weak transcription	Colonic Mucosa	Colon
7	chr19:40914400-40926600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40915400-40923000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:40915600-40919000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:40915600-40919200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:40916000-40919200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:40916200-40919000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:40916200-40919000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:40916600-40920200	Enhancers	Primary hematopoietic stem cells	blood
15	chr19:40916800-40919000	Enhancers	Fetal Muscle Leg	muscle
16	chr19:40916800-40919800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:40916800-40921000	Enhancers	Right Ventricle	heart
18	chr19:40917000-40919200	Enhancers	Fetal Intestine Small	intestine
19	chr19:40917000-40919400	Enhancers	Left Ventricle	heart
20	chr19:40917000-40920000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:40917200-40919000	Enhancers	Fetal Stomach	stomach
22	chr19:40917200-40919200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:40917200-40919600	Active TSS	Lung	lung
24	chr19:40917600-40919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:40917600-40926600	Weak transcription	Esophagus	oesophagus
26	chr19:40917800-40919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:40917800-40919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:40917800-40922800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:40917800-40923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:40918000-40919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:40918000-40919000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:40918000-40919000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:40918000-40919200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:40918000-40919400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:40918000-40920400	Weak transcription	HSMMtube	muscle
36	chr19:40918000-40922200	Weak transcription	A549	lung
37	chr19:40918000-40923000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:40918000-40926400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:40918000-40926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:40918000-40926600	Weak transcription	HSMM	muscle
41	chr19:40918200-40919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:40918200-40919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:40918200-40919200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:40918200-40919200	Weak transcription	Right Atrium	heart
45	chr19:40918200-40920600	Weak transcription	Adipose Nuclei	Adipose
46	chr19:40918200-40920600	Weak transcription	HMEC	breast
47	chr19:40918200-40921000	Weak transcription	Hela-S3	cervix
48	chr19:40918200-40921600	Weak transcription	GM12878-XiMat	blood
49	chr19:40918200-40922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:40918200-40923000	Weak transcription	Primary B cells from peripheral blood	blood

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