Variant report

Variant	rs11881598
Chromosome Location	chr19:56214048-56214049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56213525-56214048	K562	blood:	n/a	n/a
2	REST	chr19:56213585-56214051	K562	blood:	n/a	n/a
3	PML	chr19:56213553-56214173	K562	blood:	n/a	n/a
4	NR2F2	chr19:56213634-56214110	K562	blood:	n/a	n/a
5	PML	chr19:56213594-56214151	K562	blood:	n/a	n/a
6	RCOR1	chr19:56213600-56214162	K562	blood:	n/a	n/a
7	MAX	chr19:56213623-56214062	K562	blood:	n/a	n/a
8	TEAD4	chr19:56213475-56214124	K562	blood:	n/a	n/a
9	BHLHE40	chr19:56213632-56214077	K562	blood:	n/a	n/a
10	GATA2	chr19:56213636-56214053	K562	blood:	n/a	n/a
11	MAFK	chr19:56213744-56214081	K562	blood:	n/a	n/a
12	CEBPD	chr19:56213585-56214100	K562	blood:	n/a	n/a
13	CEBPD	chr19:56213559-56214165	K562	blood:	n/a	n/a
14	MYC	chr19:56213676-56214053	K562	blood:	n/a	n/a
15	IRF1	chr19:56213718-56214111	K562	blood:	n/a	n/a
16	MAX	chr19:56213494-56214067	K562	blood:	n/a	n/a
17	UBTF	chr19:56213737-56214074	K562	blood:	n/a	n/a
18	STAT5A	chr19:56213554-56214104	K562	blood:	n/a	n/a
19	HDAC2	chr19:56213585-56214050	K562	blood:	n/a	n/a
20	TEAD4	chr19:56213542-56214073	K562	blood:	n/a	n/a
21	GATA1	chr19:56213617-56214258	K562	blood:	n/a	n/a
22	POLR2A	chr19:56213442-56214051	PANC-1	pancreas:	n/a	n/a
23	RCOR1	chr19:56213609-56214136	K562	blood:	n/a	n/a
24	TBL1XR1	chr19:56213670-56214062	K562	blood:	n/a	n/a
25	TAL1	chr19:56213552-56214162	K562	blood:	n/a	n/a
26	TRIM28	chr19:56213533-56214136	K562	blood:	n/a	n/a
27	POLR2A	chr19:56213610-56214130	K562	blood:	n/a	n/a
28	ATF1	chr19:56213652-56214049	K562	blood:	n/a	n/a
29	GATA2	chr19:56213555-56214133	K562	blood:	n/a	n/a
30	STAT5A	chr19:56213637-56214130	K562	blood:	n/a	n/a
31	POLR2A	chr19:56213519-56214058	GM12892	blood:	n/a	n/a
32	MYC	chr19:56213638-56214119	K562	blood:	n/a	n/a
33	HDAC2	chr19:56213626-56214145	K562	blood:	n/a	n/a
34	CBX3	chr19:56213561-56214136	K562	blood:	n/a	n/a
35	NR2F2	chr19:56213576-56214179	K562	blood:	n/a	n/a
36	POLR2A	chr19:56213596-56214071	K562	blood:	n/a	n/a
37	ZMIZ1	chr19:56213630-56214073	K562	blood:	n/a	n/a
38	GATA1	chr19:56213619-56214160	PBDE	blood:	n/a	n/a
39	ZNF384	chr19:56213708-56214165	K562	blood:	n/a	n/a
40	EP300	chr19:56213648-56214089	K562	blood:	n/a	n/a
41	MYC	chr19:56213609-56214077	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56188121..56189803-chr19:56212346..56215225,2	K562	blood:
2	chr19:56185419..56191490-chr19:56212273..56216664,6	K562	blood:
3	chr19:56163850..56167887-chr19:56212407..56215372,3	K562	blood:
4	chr19:56207047..56209791-chr19:56212188..56214555,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268593	TF binding region
ENSG00000063244	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000203305	Chromatin interaction
ENSG00000267183	Chromatin interaction
ENSG00000267018	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10404126	1.00[AMR][1000 genomes]
rs12232883	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13382167	1.00[AMR][1000 genomes]
rs28619929	1.00[AMR][1000 genomes]
rs73933313	1.00[AMR][1000 genomes]
rs9304768	1.00[AMR][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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription 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	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1057383	chr19:56211031-56456028	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56188200-56218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:56188600-56215600	Weak transcription	Fetal Brain Male	brain
3	chr19:56191800-56218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56192000-56214600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr19:56195400-56217600	Weak transcription	Right Atrium	heart
6	chr19:56199200-56214600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:56200000-56216000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:56202600-56217000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:56205800-56215400	Weak transcription	NH-A	brain
10	chr19:56206600-56215400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:56206600-56218600	Weak transcription	HepG2	liver
12	chr19:56207000-56219200	Weak transcription	Psoas Muscle	Psoas
13	chr19:56207400-56215800	Weak transcription	HSMMtube	muscle
14	chr19:56207600-56216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:56207800-56216800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:56208000-56220000	Weak transcription	Fetal Lung	lung
17	chr19:56208200-56215800	Weak transcription	Primary B cells from cord blood	blood
18	chr19:56208400-56215800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:56209000-56217800	Weak transcription	Hela-S3	cervix
20	chr19:56209000-56218000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:56209200-56215400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:56209200-56215800	Weak transcription	Osteobl	bone
23	chr19:56209400-56218200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:56209800-56215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:56209800-56215400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:56210000-56215000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:56210000-56215200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:56210000-56217800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:56210000-56217800	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:56210000-56218000	Weak transcription	Left Ventricle	heart
31	chr19:56210000-56218400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:56210000-56219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:56210000-56220000	Weak transcription	Fetal Brain Female	brain
34	chr19:56210200-56216000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:56211000-56214800	Strong transcription	A549	lung
36	chr19:56211200-56215400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr19:56211200-56218000	Weak transcription	NHEK	skin
38	chr19:56211200-56220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:56212200-56215000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:56212200-56215400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:56212400-56214200	Weak transcription	Brain Angular Gyrus	brain
42	chr19:56212400-56214400	Weak transcription	Pancreas	Pancrea
43	chr19:56212400-56214600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:56212400-56215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:56212400-56215000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:56212400-56215000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr19:56212400-56215000	Weak transcription	Dnd41	blood
48	chr19:56212400-56215200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:56212400-56215200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:56212400-56215200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links