Variant report

Variant	rs73932294
Chromosome Location	chr19:55591238-55591239
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:55591152-55592247	A549	lung:	n/a	chr19:55591230-55591237 chr19:55592036-55592051 chr19:55592038-55592048 chr19:55592038-55592047 chr19:55592039-55592046 chr19:55591937-55591946
2	POLR2A	chr19:55591013-55593186	MCF-7	breast:	n/a	n/a
3	E2F6	chr19:55591108-55592958	K562	blood:	n/a	n/a
4	POLR2A	chr19:55591215-55594182	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:55590829-55593392	K562	blood:	n/a	n/a
6	POLR2A	chr19:55590899-55591281	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr19:55590779-55592847	K562	blood:	n/a	n/a
8	CBX3	chr19:55590613-55593218	K562	blood:	n/a	n/a
9	SIN3AK20	chr19:55591215-55592410	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:55590938-55592859	K562	blood:	n/a	n/a
11	POLR2A	chr19:55591196-55592978	K562	blood:	n/a	n/a
12	NR2F2	chr19:55591029-55593077	K562	blood:	n/a	n/a
13	POLR2A	chr19:55591048-55592340	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:55591104-55593288	MCF-7	breast:	n/a	n/a
15	MYC	chr19:55591048-55591244	MCF-7	breast:	n/a	chr19:55591230-55591237
16	TBL1XR1	chr19:55590861-55592392	K562	blood:	n/a	n/a
17	POLR2A	chr19:55591058-55593209	HCT-116	colon:	n/a	n/a
18	ELF1	chr19:55590997-55591266	K562	blood:	n/a	n/a
19	PAX5	chr19:55591085-55591336	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:55590961-55593806	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:55591188-55593169	SK-N-MC	brain:	n/a	n/a
22	MAX	chr19:55591133-55591320	K562	blood:	n/a	chr19:55591230-55591237
23	MAX	chr19:55590805-55593280	K562	blood:	n/a	chr19:55591230-55591237 chr19:55592036-55592051 chr19:55592038-55592048 chr19:55592038-55592047 chr19:55592542-55592552 chr19:55592039-55592046 chr19:55591937-55591946

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55590282..55593983-chr19:55668450..55672239,5	K562	blood:
2	chr19:55579877..55582697-chr19:55590246..55594605,5	K562	blood:
3	chr19:55590451..55592160-chr19:56109992..56112858,2	K562	blood:
4	chr19:55590321..55593325-chr19:55662374..55666146,3	K562	blood:
5	chr19:55584232..55587970-chr19:55588941..55594707,6	MCF-7	breast:
6	chr19:55583728..55588603-chr19:55588891..55593103,7	K562	blood:
7	chr19:55580810..55583593-chr19:55589844..55591907,2	K562	blood:
8	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
9	chr19:55590426..55594638-chr19:55684228..55687886,4	K562	blood:
10	chr19:55579423..55583045-chr19:55590822..55594166,5	MCF-7	breast:
11	chr19:55574779..55578954-chr19:55590398..55594780,7	K562	blood:
12	chr19:55590620..55592858-chr19:55916927..55919392,2	K562	blood:
13	chr19:55590507..55594768-chr19:55917232..55920967,4	K562	blood:
14	chr19:54974707..54977217-chr19:55590238..55592841,2	K562	blood:
15	chr19:55591162..55592907-chr19:56164329..56166791,2	K562	blood:
16	chr19:55585770..55588599-chr19:55589923..55593327,7	K562	blood:
17	chr19:55585799..55587741-chr19:55590288..55592473,2	MCF-7	breast:
18	chr19:55591142..55593634-chr19:55888302..55890512,2	K562	blood:
19	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
20	chr19:55574558..55577984-chr19:55590398..55594592,5	K562	blood:
21	chr19:55589568..55594642-chr19:55594653..55598392,9	MCF-7	breast:
22	chr19:55590129..55594149-chr19:55677127..55678963,3	K562	blood:

No data

Variant related genes	Relation type
EPS8L1	TF binding region
ENSG00000129990	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000267110	Chromatin interaction
ENSG00000269275	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179943	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73932296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932297	1.00[AMR][1000 genomes]
rs73932298	1.00[AMR][1000 genomes]
rs73932301	1.00[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	esv3319164	chr19:54983548-55605784	Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv3319165	chr19:54983548-55605784	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3395724	chr19:54983577-55605784	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	esv3341592	chr19:54983611-55605750	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
6	nsv1063666	chr19:55030439-55622780	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55587000-55591800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:55588200-55591400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:55588200-55591800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:55588600-55591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:55590400-55591400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr19:55590400-55591400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:55590400-55591400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr19:55590400-55592200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr19:55590400-55592800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr19:55590600-55591400	Transcr. at gene 5' and 3'	Placenta	Placenta
11	chr19:55590600-55591800	Enhancers	Lung	lung
12	chr19:55590800-55591800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
13	chr19:55590800-55594000	Genic enhancers	Gastric	stomach
14	chr19:55591000-55591400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr19:55591000-55591400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:55591000-55591400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:55591000-55591400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:55591000-55591400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr19:55591000-55591400	Enhancers	HMEC	breast
20	chr19:55591000-55591400	Enhancers	NHEK	skin
21	chr19:55591000-55591800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:55591000-55591800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr19:55591000-55591800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr19:55591000-55591800	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:55591000-55591800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr19:55591000-55591800	Enhancers	Pancreas	Pancrea
27	chr19:55591000-55591800	Active TSS	Hela-S3	cervix
28	chr19:55591000-55592200	Bivalent Enhancer	Spleen	Spleen
29	chr19:55591000-55592600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
30	chr19:55591000-55593400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:55591000-55594000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:55591200-55591400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:55591200-55591400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr19:55591200-55591400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:55591200-55591400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr19:55591200-55591400	Bivalent Enhancer	Right Ventricle	heart
37	chr19:55591200-55591400	Active TSS	A549	lung
38	chr19:55591200-55591400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr19:55591200-55591600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr19:55591200-55591600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:55591200-55591600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:55591200-55591600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr19:55591200-55591600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr19:55591200-55591600	Weak transcription	Right Atrium	heart
45	chr19:55591200-55591600	Bivalent Enhancer	Small Intestine	intestine
46	chr19:55591200-55591600	Bivalent Enhancer	Thymus	Thymus
47	chr19:55591200-55591600	Flanking Active TSS	K562	blood
48	chr19:55591200-55591800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:55591200-55591800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:55591200-55591800	Bivalent Enhancer	Brain Germinal Matrix	brain

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