Variant report

Variant	rs573450144
Chromosome Location	chr19:39261896-39261897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39261135-39262060	GM12878	blood:	n/a	n/a
2	EBF1	chr19:39261283-39261902	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:39261355-39262042	ProgFib	skin:	n/a	n/a
4	POLR2A	chr19:39260293-39262971	PANC-1	pancreas:	n/a	n/a
5	POU2F2	chr19:39261318-39262174	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:39260196-39261998	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr19:39261293-39262067	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:39261469-39261958	GM12891	blood:	n/a	n/a
9	SPI1	chr19:39261446-39261918	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:39261410-39261903	GM12892	blood:	n/a	n/a
11	SPI1	chr19:39261542-39261903	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:39261325-39262017	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:39261252-39261910	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:39260267-39262812	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:39261288-39262028	GM12892	blood:	n/a	n/a
16	PAX5	chr19:39261194-39261997	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:39261434-39261901	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:39261354-39261905	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:39261474-39261953	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:39261280-39261949	A549	lung:	n/a	n/a
21	POLR2A	chr19:39260924-39262094	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:39261519-39261905	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:39261276-39261931	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:39261431-39261903	A549	lung:	n/a	n/a
25	CTCF	chr19:39261794-39261909	Lung_OC	lung:	n/a	n/a
26	POLR2A	chr19:39261311-39262102	U87	brain:	n/a	n/a
27	SP1	chr19:39261177-39261953	GM12878	blood:	n/a	chr19:39261428-39261438
28	SP1	chr19:39261426-39261899	GM12878	blood:	n/a	chr19:39261428-39261438
29	PAX5	chr19:39261526-39261932	GM12878	blood:	n/a	n/a
30	EBF1	chr19:39261667-39261985	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:39261324-39261907	A549	lung:	n/a	n/a
32	POLR2A	chr19:39261281-39261953	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:39261404-39261946	U87	brain:	n/a	n/a
34	POLR2A	chr19:39261385-39261924	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr19:39261230-39261933	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39260117..39262134-chr19:39341376..39343069,2	K562	blood:

No data

Variant related genes	Relation type
CAPN12	TF binding region
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv911671	chr19:39252238-39306425	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1063592	chr19:39257977-39287265	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv9719	chr19:39260214-39262452	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39254200-39265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39260400-39264200	Weak transcription	NHEK	skin
4	chr19:39260800-39264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:39260800-39264200	Weak transcription	A549	lung
6	chr19:39261000-39262000	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:39261000-39262200	Active TSS	Fetal Intestine Large	intestine
8	chr19:39261000-39262200	Active TSS	Fetal Intestine Small	intestine
9	chr19:39261000-39262400	Weak transcription	Esophagus	oesophagus
10	chr19:39261000-39262600	Weak transcription	HMEC	breast
11	chr19:39261000-39264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:39261000-39264600	Weak transcription	Stomach Mucosa	stomach
13	chr19:39261000-39264600	Weak transcription	Spleen	Spleen
14	chr19:39261000-39265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:39261000-39269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:39261200-39264200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:39261200-39264600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:39261600-39262200	Active TSS	Brain Germinal Matrix	brain
19	chr19:39261800-39262000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:39261800-39262600	Active TSS	H9 Cell Line	embryonic stem cell

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