Variant report

Variant	rs73607778
Chromosome Location	chr19:36501131-36501132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36499218-36501149	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:36501043-36501179	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:36501111-36501263	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36501131-36501138	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36464329..36466760-chr19:36500199..36501728,2	K562	blood:
2	chr19:36494473..36501836-chr19:36501930..36505739,14	K562	blood:
3	chr19:36487282..36490058-chr19:36500834..36502670,2	K562	blood:
4	chr19:36208921..36210608-chr19:36499552..36501350,2	MCF-7	breast:
5	chr19:36496294..36501686-chr19:36543356..36547257,9	MCF-7	breast:
6	chr19:36497884..36507784-chr19:36542079..36547610,17	MCF-7	breast:
7	chr19:36498267..36501775-chr19:36606279..36609989,4	MCF-7	breast:
8	chr19:36456558..36458643-chr19:36500647..36502286,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267698	TF binding region
SYNE4	TF binding region
ENSG00000161277	Chromatin interaction
ENSG00000267698	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000239382	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000105254	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10412081	0.96[EUR][1000 genomes]
rs11881428	0.92[EUR][1000 genomes]
rs57255566	0.96[EUR][1000 genomes]
rs58991245	0.96[EUR][1000 genomes]
rs73607766	1.00[EUR][1000 genomes]
rs73607776	0.85[EUR][1000 genomes]
rs8111422	0.85[EUR][1000 genomes]
rs8112690	1.00[EUR][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	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	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv1000212	chr19:36494643-36508508	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36487200-36504200	Weak transcription	HSMMtube	muscle
2	chr19:36488000-36504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36488400-36504200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:36488600-36503800	Weak transcription	GM12878-XiMat	blood
5	chr19:36488800-36504000	Weak transcription	Hela-S3	cervix
6	chr19:36492600-36503600	Weak transcription	Dnd41	blood
7	chr19:36492600-36503800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36492800-36503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:36494400-36504400	Weak transcription	Aorta	Aorta
10	chr19:36495600-36503800	Weak transcription	K562	blood
11	chr19:36499600-36501200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:36499600-36501200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:36499600-36501200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr19:36499800-36502200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:36500000-36504200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:36500400-36501200	Enhancers	Gastric	stomach
17	chr19:36500400-36501600	Weak transcription	HepG2	liver
18	chr19:36500400-36504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:36500400-36504200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:36500600-36501200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:36500600-36504200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:36500600-36504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:36500800-36501200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr19:36500800-36501200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:36500800-36501200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:36500800-36501200	Enhancers	Brain Cingulate Gyrus	brain
27	chr19:36500800-36501200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr19:36500800-36501400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:36500800-36501400	Strong transcription	NHEK	skin
30	chr19:36500800-36501600	Enhancers	Esophagus	oesophagus
31	chr19:36500800-36501600	Enhancers	Right Ventricle	heart
32	chr19:36500800-36503800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:36500800-36503800	Weak transcription	Brain Substantia Nigra	brain
34	chr19:36500800-36503800	Weak transcription	Thymus	Thymus
35	chr19:36500800-36504000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:36500800-36504000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:36500800-36504000	Weak transcription	Lung	lung
38	chr19:36500800-36504000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:36500800-36504200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:36500800-36504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:36500800-36504200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:36500800-36504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:36500800-36504200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:36500800-36504200	Weak transcription	Fetal Heart	heart
45	chr19:36500800-36504200	Weak transcription	Fetal Intestine Small	intestine
46	chr19:36500800-36504200	Weak transcription	Psoas Muscle	Psoas
47	chr19:36500800-36504200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:36500800-36504200	Weak transcription	Right Atrium	heart
49	chr19:36500800-36504200	Weak transcription	HMEC	breast
50	chr19:36500800-36504200	Weak transcription	NHLF	lung

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