Variant report

Variant	rs73560132
Chromosome Location	chr19:51854815-51854816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51853291-51855933	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51851684-51855856	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:51853308-51855816	HepG2	liver:	n/a	n/a
4	NFIC	chr19:51854533-51854921	HepG2	liver:	n/a	n/a
5	RCOR1	chr19:51854019-51854938	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:51854789-51854998	K562	blood:	n/a	n/a
7	MXI1	chr19:51853925-51854877	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:51853840-51856723	HepG2	liver:	n/a	n/a
9	HEY1	chr19:51853865-51858457	HepG2	liver:	n/a	n/a
10	MAX	chr19:51853878-51854826	A549	lung:	n/a	n/a
11	RCOR1	chr19:51853882-51854926	IMR90	lung:	n/a	n/a
12	POLR2A	chr19:51853924-51855414	HepG2	liver:	n/a	n/a
13	JUN	chr19:51853889-51855446	K562	blood:	n/a	n/a
14	POLR2A	chr19:51853936-51854851	K562	blood:	n/a	n/a
15	POLR2A	chr19:51844742-51856690	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:51853853-51855362	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:51853333..51857746-chr19:51859139..51862708,5	K562	blood:
2	chr19:51828978..51831175-chr19:51852323..51855561,3	K562	blood:
3	chr19:51852648..51855470-chr19:51896784..51899076,2	K562	blood:
4	chr19:51844754..51846503-chr19:51852694..51854922,2	MCF-7	breast:
5	chr19:51848237..51856350-chr19:51866106..51872931,10	MCF-7	breast:

No data

Variant related genes	Relation type
ETFB	TF binding region
ENSG00000269403	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57439176	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
2	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:51843800-51857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:51844000-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
6	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
7	chr19:51844200-51857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:51844200-51857600	Weak transcription	NH-A	brain
9	chr19:51845800-51856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:51846000-51857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:51846200-51856400	Weak transcription	Fetal Brain Male	brain
12	chr19:51846200-51857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:51846200-51857600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:51846400-51857200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:51846400-51857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:51846400-51857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:51846400-51857400	Weak transcription	Stomach Mucosa	stomach
18	chr19:51846600-51855600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:51846600-51857400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:51846600-51857600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:51847200-51856600	Strong transcription	Fetal Stomach	stomach
22	chr19:51847200-51868600	Weak transcription	Fetal Lung	lung
23	chr19:51847400-51856400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:51847400-51856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:51847400-51858200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:51847600-51856600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:51847800-51856800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:51848000-51855800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:51848000-51856200	Strong transcription	Primary T cells from cord blood	blood
30	chr19:51848000-51856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:51848000-51856600	Strong transcription	Adipose Nuclei	Adipose
32	chr19:51848000-51857800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr19:51848000-51858200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr19:51848000-51858400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr19:51848200-51856200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr19:51848200-51856800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:51848200-51856800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:51848400-51858200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:51849000-51862400	Weak transcription	NHDF-Ad	bronchial
40	chr19:51850600-51857600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:51850600-51862400	Weak transcription	NHEK	skin
42	chr19:51851000-51857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:51851000-51861600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:51851400-51857000	Strong transcription	Fetal Intestine Small	intestine
45	chr19:51851800-51857800	Weak transcription	HSMMtube	muscle
46	chr19:51852000-51855000	Strong transcription	Brain Hippocampus Middle	brain
47	chr19:51852000-51855200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:51852200-51856600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:51852200-51858000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:51852400-51865200	Weak transcription	Fetal Heart	heart

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