Variant report

Variant	rs61743722
Chromosome Location	chr19:56901457-56901458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56901163-56901718	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56901457-56901507	HL-60	blood:	n/a
2	chr19:56901457-56901507	NH-A	brain:	n/a
3	chr19:56901457-56901507	A549	lung:	n/a
4	chr19:56901457-56901507	BJ	skin:	n/a
5	chr19:56901457-56901507	SK-N-SH	brain:	n/a
6	chr19:56901457-56901507	HepG2	liver:	n/a
7	chr19:56901457-56901507	AG04449	skin:	fetal
8	chr19:56901457-56901507	HCT-116	colon:	n/a
9	chr19:56901457-56901507	CMK	blood:	n/a
10	chr19:56901457-56901507	GM12892	blood:	n/a
11	chr19:56901457-56901507	HCPEpiC	choroid plexus:	n/a
12	chr19:56901457-56901507	Hepatocyte	liver:	n/a
13	chr19:56901457-56901507	K562	blood:	n/a
14	chr19:56901457-56901507	Jurkat	blood:	n/a
15	chr19:56901457-56901507	AG09309	skin:	n/a
16	chr19:56901457-56901507	GM12891	blood:	n/a
17	chr19:56901457-56901507	SK-N-SH_RA	brain:	n/a
18	chr19:56901457-56901507	Caco-2	colon:	n/a
19	chr19:56901457-56901507	GM12878	blood:	n/a
20	chr19:56901457-56901507	PrEC	prostate:	n/a
21	chr19:56901457-56901507	LNCaP	prostate:	n/a
22	chr19:56901457-56901507	SK-N-MC	brain:	n/a
23	chr19:56901457-56901507	HRCEpiC	kidney:	n/a
24	chr19:56901457-56901507	HRPEpiC	eye:	n/a
25	chr19:56901457-56901507	AG09319	gingival:	n/a
26	chr19:56901457-56901507	NT2-D1	testis:	n/a
27	chr19:56901457-56901507	RPTEC	kidney:	n/a
28	chr19:56901457-56901507	NHDF-neo	bronchial:	n/a
29	chr19:56901457-56901507	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:56901457-56901507	HEEpiC	esophagus:	n/a
31	chr19:56901457-56901507	ovcar-3	ovarian:	n/a
32	chr19:56901457-56901507	AoSMC	blood vessel:	n/a
33	chr19:56901457-56901507	ProgFib	skin:	n/a
34	chr19:56901457-56901507	PANC-1	pancreas:	n/a
35	chr19:56901457-56901507	HAEpiC	amniotic membrane:	n/a
36	chr19:56901457-56901507	MCF10A-Er-Src	breast:	n/a
37	chr19:56901457-56901507	BE2_C	brain:	n/a
38	chr19:56901457-56901507	HUVEC	blood vessel:	n/a
39	chr19:56901457-56901507	SAEC	small airway:	n/a
40	chr19:56901457-56901507	HEK293	kidney:	embryo
41	chr19:56901457-56901507	MCF-7	breast:	n/a
42	chr19:56901457-56901507	SKMC	muscle:	n/a
43	chr19:56901457-56901507	NB4	blood:	n/a
44	chr19:56901457-56901507	Hela-S3	cervix:	n/a
45	chr19:56901457-56901507	HCF	heart:	n/a
46	chr19:56901457-56901507	HRE	kidney:	n/a
47	chr19:56901457-56901507	GM19239	blood:	n/a
48	chr19:56901457-56901507	HCM	heart:	n/a
49	chr19:56901457-56901507	U87	brain:	n/a
50	chr19:56901457-56901507	HMEC	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56875882..56877892-chr19:56898924..56901485,2	K562	blood:
2	chr19:56899387..56901463-chr19:56903012..56905294,2	K562	blood:
3	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:

No data

Variant related genes	Relation type
ZNF582-AS1	TF binding region
ZNF582-AS1	CpG island
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000267606	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11670383	0.85[AMR][1000 genomes]
rs11672348	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11672698	0.85[AMR][1000 genomes]
rs11883053	0.85[AMR][1000 genomes]
rs55634464	0.85[AMR][1000 genomes]
rs55887007	0.85[AMR][1000 genomes]
rs56342533	0.85[AMR][1000 genomes]
rs56790623	0.85[AMR][1000 genomes]
rs56805916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60020666	1.00[AMR][1000 genomes]
rs60471512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635147	0.85[AMR][1000 genomes]
rs61740673	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
2	chr19:56889200-56904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:56889400-56904000	Weak transcription	Fetal Heart	heart
4	chr19:56889400-56904000	Weak transcription	K562	blood
5	chr19:56890200-56903600	Weak transcription	Fetal Brain Male	brain
6	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:56894200-56903800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56894800-56902000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:56894800-56902000	Strong transcription	Brain Hippocampus Middle	brain
10	chr19:56894800-56903400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:56895200-56903200	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr19:56895200-56903400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:56895400-56902200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:56895400-56902600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:56895800-56902000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:56896000-56901800	Strong transcription	Brain Substantia Nigra	brain
17	chr19:56896000-56904400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:56896600-56902000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:56896600-56904200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:56896800-56903800	Weak transcription	Fetal Kidney	kidney
21	chr19:56897000-56903000	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:56897400-56904200	Weak transcription	NHLF	lung
23	chr19:56897600-56902000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56898000-56901800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:56898000-56902000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:56898000-56902800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:56898200-56904000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:56898200-56904000	Weak transcription	Osteobl	bone
29	chr19:56898200-56904200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:56898400-56901800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:56898600-56902000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:56898600-56903000	Strong transcription	Brain Cingulate Gyrus	brain
33	chr19:56898800-56903000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:56898800-56903400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:56899200-56901800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:56899200-56902000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:56899200-56902200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr19:56899200-56904000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:56899400-56901800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:56899400-56902000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:56899400-56904200	Weak transcription	NH-A	brain
42	chr19:56899600-56902000	ZNF genes & repeats	Ovary	ovary
43	chr19:56899800-56901800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr19:56899800-56901800	Strong transcription	Rectal Smooth Muscle	rectum
45	chr19:56899800-56902000	ZNF genes & repeats	Aorta	Aorta
46	chr19:56899800-56902000	Strong transcription	Placenta	Placenta
47	chr19:56899800-56902000	ZNF genes & repeats	Lung	lung
48	chr19:56899800-56902000	ZNF genes & repeats	Spleen	Spleen
49	chr19:56899800-56902200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:56899800-56902200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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