Variant report

Variant	rs560236288
Chromosome Location	chr19:52097300-52097301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:52097011-52098187	A549	lung:	n/a	n/a
2	MXI1	chr19:52097152-52097907	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr19:52097212-52097989	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:52097213-52098016	GM15510	blood:	n/a	n/a
5	POLR2A	chr19:52096649-52098159	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:52097124-52098203	MCF-7	breast:	n/a	n/a
7	NRF1	chr19:52096917-52098423	SK-N-SH	brain:	n/a	chr19:52097639-52097648 chr19:52097639-52097653 chr19:52097639-52097650 chr19:52097636-52097650 chr19:52097644-52097655
8	HCFC1	chr19:52097053-52098362	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:52095177-52098004	U87	brain:	n/a	n/a
10	CTCF	chr19:52097280-52097430	GM12869	blood:	n/a	n/a
11	PML	chr19:52097214-52098091	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:52097285-52097857	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr19:52095947-52098295	K562	blood:	n/a	n/a
14	MAX	chr19:52097217-52098234	K562	blood:	n/a	n/a
15	ZNF263	chr19:52096973-52098574	HEK293-T-REx	kidney:	n/a	n/a
16	CHD2	chr19:52097118-52098214	K562	blood:	n/a	n/a
17	POLR2A	chr19:52097262-52098096	Raji	blood:	n/a	n/a
18	POLR2A	chr19:52095284-52097348	U87	brain:	n/a	n/a
19	POLR2A	chr19:52097131-52097428	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:52097293-52097554	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT5A	chr19:52097297-52098176	GM12878	blood:	n/a	n/a
22	ELF1	chr19:52097205-52098313	GM12878	blood:	n/a	chr19:52097710-52097719
23	GATA2	chr19:52096634-52097472	HUVEC	blood vessel:	n/a	chr19:52096856-52096877 chr19:52096863-52096872 chr19:52097058-52097074 chr19:52096859-52096875 chr19:52096862-52096872 chr19:52097056-52097077 chr19:52096863-52096870 chr19:52096833-52096840 chr19:52097060-52097074
24	TCF12	chr19:52097149-52098234	A549	lung:	n/a	chr19:52097604-52097611 chr19:52097787-52097797
25	BHLHE40	chr19:52096954-52097910	K562	blood:	n/a	n/a
26	CCNT2	chr19:52097073-52098002	K562	blood:	n/a	n/a
27	MTA3	chr19:52096806-52098235	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:52097028-52098348	H1-neurons	neurons:	n/a	n/a
29	ETS1	chr19:52097213-52098206	A549	lung:	n/a	chr19:52097829-52097842 chr19:52097729-52097742 chr19:52097796-52097809
30	ELF1	chr19:52097272-52098159	GM12878	blood:	n/a	chr19:52097710-52097719
31	MAZ	chr19:52097043-52098242	K562	blood:	n/a	n/a
32	REST	chr19:52097176-52097606	A549	lung:	n/a	n/a
33	POLR2A	chr19:52097207-52097455	MCF-7	breast:	n/a	n/a
34	POLR2A	chr19:52097190-52098033	A549	lung:	n/a	n/a
35	POLR2A	chr19:52097208-52097994	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr19:52097059-52098005	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr19:52097196-52097708	ProgFib	skin:	n/a	n/a
38	STAT1	chr19:52097229-52098267	GM12878	blood:	n/a	n/a
39	TEAD4	chr19:52097297-52097911	K562	blood:	n/a	n/a
40	BACH1	chr19:52097209-52097438	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:52095276-52097905	K562	blood:	n/a	n/a
42	POLR2A	chr19:52097182-52098060	GM18951	blood:	n/a	n/a
43	MXI1	chr19:52097187-52098024	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:52095284-52097962	U87	brain:	n/a	n/a
45	POLR2A	chr19:52097000-52097906	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr19:52097015-52098067	K562	blood:	n/a	n/a
47	POLR2A	chr19:52096111-52097902	GM12878	blood:	n/a	n/a
48	TEAD4	chr19:52097288-52097983	H1-hESC	embryonic stem cell:	n/a	n/a
49	RELA	chr19:52097254-52097964	GM19193	blood:	n/a	n/a
50	POLR2A	chr19:52097271-52098052	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52097276-52097326	NH-A	brain:	n/a
2	chr19:52097276-52097326	Jurkat	blood:	n/a
3	chr19:52097276-52097326	AG04449	skin:	fetal
4	chr19:52097276-52097326	HIPEpiC	eye:	n/a
5	chr19:52097276-52097326	HCM	heart:	n/a
6	chr19:52097276-52097326	AG09319	gingival:	n/a
7	chr19:52097276-52097326	PrEC	prostate:	n/a
8	chr19:52097276-52097326	U87	brain:	n/a
9	chr19:52097276-52097326	CMK	blood:	n/a
10	chr19:52097276-52097326	PANC-1	pancreas:	n/a
11	chr19:52097276-52097326	HUVEC	blood vessel:	n/a
12	chr19:52097276-52097326	BJ	skin:	n/a
13	chr19:52097276-52097326	NT2-D1	testis:	n/a
14	chr19:52097276-52097326	RPTEC	kidney:	n/a
15	chr19:52097276-52097326	T-47D	breast:	n/a
16	chr19:52097276-52097326	H1-hESC	embryonic stem cell:	embryo
17	chr19:52097276-52097326	SKMC	muscle:	n/a
18	chr19:52097276-52097326	HL-60	blood:	n/a
19	chr19:52097276-52097326	SK-N-MC	brain:	n/a
20	chr19:52097276-52097326	A549	lung:	n/a
21	chr19:52097276-52097326	AG04450	lung:	fetal
22	chr19:52097276-52097326	HCPEpiC	choroid plexus:	n/a
23	chr19:52097276-52097326	SK-N-SH_RA	brain:	n/a
24	chr19:52097276-52097326	PFSK-1	brain:	n/a
25	chr19:52097276-52097326	BE2_C	brain:	n/a
26	chr19:52097276-52097326	SK-N-SH	brain:	n/a
27	chr19:52097276-52097326	HRCEpiC	kidney:	n/a
28	chr19:52097276-52097326	HCT-116	colon:	n/a
29	chr19:52097276-52097326	IMR90	lung:	fetal
30	chr19:52097276-52097326	ECC-1	luminal epithelium:	n/a
31	chr19:52097276-52097326	AG09309	skin:	n/a
32	chr19:52097276-52097326	HepG2	liver:	n/a
33	chr19:52097276-52097326	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:52097276-52097326	Caco-2	colon:	n/a
35	chr19:52097276-52097326	Hela-S3	cervix:	n/a
36	chr19:52097276-52097326	GM19239	blood:	n/a
37	chr19:52097276-52097326	ProgFib	skin:	n/a
38	chr19:52097276-52097326	LNCaP	prostate:	n/a
39	chr19:52097276-52097326	NB4	blood:	n/a
40	chr19:52097276-52097326	NHDF-neo	bronchial:	n/a
41	chr19:52097276-52097326	HMEC	breast:	n/a
42	chr19:52097276-52097326	MCF10A-Er-Src	breast:	n/a
43	chr19:52097276-52097326	ovcar-3	ovarian:	n/a
44	chr19:52097276-52097326	AoSMC	blood vessel:	n/a
45	chr19:52097276-52097326	HNPCEpiC	eye:	n/a
46	chr19:52097276-52097326	Hepatocyte	liver:	n/a
47	chr19:52097276-52097326	HAEpiC	amniotic membrane:	n/a
48	chr19:52097276-52097326	GM12891	blood:	n/a
49	chr19:52097276-52097326	MCF-7	breast:	n/a
50	chr19:52097276-52097326	HRPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
2	chr19:51869850..51871538-chr19:52096656..52099033,2	K562	blood:
3	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:
4	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
5	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018755.11.1-1	chr19:52097202-52097633	NR_034159

No data

Variant related genes	Relation type
ENSG00000269388	TF binding region
ENSG00000269388	CpG island
ENSG00000160318	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268889	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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
10	nsv9740	chr19:52096231-52107021	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52096400-52097400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr19:52096400-52097400	Flanking Active TSS	Dnd41	blood
3	chr19:52096400-52097600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr19:52096400-52097600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr19:52096600-52097400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:52096600-52097400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:52096600-52097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:52096600-52097400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr19:52096600-52097400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:52096600-52097400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:52096600-52097400	Flanking Active TSS	Colonic Mucosa	Colon
12	chr19:52096600-52097400	Flanking Active TSS	Fetal Heart	heart
13	chr19:52096600-52097400	Flanking Active TSS	Pancreas	Pancrea
14	chr19:52096600-52097600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr19:52096600-52098000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:52096600-52098200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:52096600-52098200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:52096600-52098200	Active TSS	Fetal Kidney	kidney
19	chr19:52096600-52098400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:52096600-52098400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:52096600-52098400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:52096600-52098400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:52096600-52098400	Active TSS	NHDF-Ad	bronchial
24	chr19:52096600-52098600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:52096600-52098600	Active TSS	A549	lung
26	chr19:52096600-52098800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:52096800-52097400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:52096800-52097400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:52096800-52097400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr19:52096800-52097400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:52096800-52097400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr19:52096800-52097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:52096800-52097400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:52096800-52097400	Flanking Active TSS	Fetal Brain Male	brain
35	chr19:52096800-52097400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr19:52096800-52097400	Flanking Active TSS	Left Ventricle	heart
37	chr19:52096800-52097400	Flanking Active TSS	Thymus	Thymus
38	chr19:52096800-52097600	Flanking Active TSS	Liver	Liver
39	chr19:52096800-52097600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr19:52096800-52097600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr19:52096800-52098000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:52096800-52098000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:52096800-52098000	Active TSS	HMEC	breast
44	chr19:52096800-52098200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr19:52096800-52098200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr19:52096800-52098200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr19:52096800-52098400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr19:52096800-52098400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:52096800-52098400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:52096800-52098400	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links