Variant report

Variant	rs73590895
Chromosome Location	chr19:36392673-36392674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36392650-36393769	GM12878	blood:	n/a	n/a
2	MTA3	chr19:36392654-36393933	GM12878	blood:	n/a	n/a
3	MYC	chr19:36392649-36393763	NB4	blood:	n/a	n/a
4	POLR2A	chr19:36392399-36392765	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:36392633-36395066	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:36392517-36395149	GM12878	blood:	n/a	n/a
7	TCF12	chr19:36391975-36392699	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:
2	chr19:36361275..36362791-chr19:36390518..36392697,2	K562	blood:
3	chr1:239595515..239596274-chr19:36392405..36393038,2	MCF-7	breast:
4	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:

No data

Variant related genes	Relation type
HCST	TF binding region
NFKBID	TF binding region
ENSG00000011600	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs34933126	0.85[EUR][1000 genomes]
rs56744930	0.85[EUR][1000 genomes]
rs57412339	0.81[EUR][1000 genomes]
rs57516855	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58504183	0.81[EUR][1000 genomes]
rs58551711	0.81[EUR][1000 genomes]
rs59399698	0.90[EUR][1000 genomes]
rs59478831	0.85[EUR][1000 genomes]
rs59534183	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs60576074	1.00[ASN][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61672461	0.85[EUR][1000 genomes]
rs7253086	0.81[EUR][1000 genomes]
rs7256280	0.85[EUR][1000 genomes]
rs7256433	0.81[EUR][1000 genomes]
rs7260613	0.85[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599561	0.85[EUR][1000 genomes]
rs73599586	0.85[EUR][1000 genomes]
rs73599600	0.81[EUR][1000 genomes]
rs807660	1.00[ASN][1000 genomes]
rs909135	0.81[EUR][1000 genomes]
rs909136	0.81[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	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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36390800-36395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36391000-36395000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr19:36391600-36393000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:36391600-36393200	Weak transcription	Esophagus	oesophagus
5	chr19:36391600-36393200	Weak transcription	Lung	lung
6	chr19:36391600-36394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:36391600-36394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:36391600-36394400	Weak transcription	Gastric	stomach
9	chr19:36391600-36394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:36391600-36394400	Enhancers	HMEC	breast
11	chr19:36391600-36394600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:36391600-36395000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:36391600-36395000	Flanking Active TSS	Fetal Thymus	thymus
14	chr19:36391600-36395000	Enhancers	Spleen	Spleen
15	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
16	chr19:36391800-36392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:36391800-36392800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:36391800-36392800	Weak transcription	Brain Anterior Caudate	brain
19	chr19:36391800-36392800	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:36391800-36393000	Weak transcription	Liver	Liver
21	chr19:36391800-36393000	Flanking Active TSS	Osteobl	bone
22	chr19:36391800-36393200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:36391800-36393200	Flanking Active TSS	Thymus	Thymus
24	chr19:36391800-36393400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:36391800-36393400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:36391800-36393400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:36391800-36393400	Weak transcription	Pancreas	Pancrea
28	chr19:36391800-36393400	Weak transcription	Right Ventricle	heart
29	chr19:36391800-36393600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:36391800-36393600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:36391800-36393800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:36391800-36394000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr19:36391800-36394000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36391800-36394200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr19:36391800-36394200	Enhancers	K562	blood
36	chr19:36391800-36394200	Enhancers	NHEK	skin
37	chr19:36391800-36394400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:36391800-36395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr19:36391800-36395000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:36391800-36395200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr19:36391800-36395200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr19:36391800-36395200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr19:36391800-36395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:36391800-36395200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr19:36391800-36396000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr19:36391800-36396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:36391800-36396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr19:36392000-36392800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:36392000-36392800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:36392000-36392800	Enhancers	Primary B cells from peripheral blood	blood

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