Variant report

Variant	rs11541427
Chromosome Location	chr19:18652625-18652626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18652624-18652643	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:18652024-18652774	K562	blood:	n/a	n/a
3	ZNF263	chr19:18652222-18652941	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:
2	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
3	chr19:18646844..18649576-chr19:18650784..18652699,2	MCF-7	breast:
4	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
5	chr19:18640357..18642464-chr19:18650908..18653787,2	MCF-7	breast:
6	chr19:18630875..18635401-chr19:18651200..18655863,9	MCF-7	breast:
7	chr19:18650801..18653024-chr19:18671456..18674102,2	K562	blood:
8	chr19:18642522..18644970-chr19:18651017..18653848,4	K562	blood:
9	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
10	chr19:18652388..18654838-chr19:18668474..18670630,2	K562	blood:
11	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP8	TF binding region
ENSG00000269191	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000268938	Chromatin interaction
ENSG00000105701	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv911285	chr19:18646932-18667472	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv3345432	chr19:18652252-18655950	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18652800	Weak transcription	Stomach Mucosa	stomach
2	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
4	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
5	chr19:18633800-18652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
7	chr19:18641800-18652800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:18641800-18653000	Strong transcription	Fetal Stomach	stomach
9	chr19:18642000-18652800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:18642000-18652800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:18642000-18652800	Strong transcription	Fetal Intestine Small	intestine
12	chr19:18642200-18652800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr19:18642200-18652800	Strong transcription	Fetal Thymus	thymus
14	chr19:18642200-18653000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:18644200-18652800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:18645200-18652800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:18646000-18652800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:18646000-18652800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:18646200-18652800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr19:18646600-18652800	Strong transcription	Fetal Brain Female	brain
21	chr19:18646600-18653200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:18647000-18653200	Weak transcription	Small Intestine	intestine
23	chr19:18647800-18653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:18648400-18653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:18649400-18653200	Weak transcription	HSMMtube	muscle
26	chr19:18649800-18652800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:18650000-18652800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:18650000-18652800	Strong transcription	Colon Smooth Muscle	Colon
29	chr19:18650200-18652800	Strong transcription	HSMM	muscle
30	chr19:18650600-18652800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:18651200-18652800	Weak transcription	Left Ventricle	heart
32	chr19:18651200-18652800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:18651800-18653000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr19:18652000-18652800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:18652000-18652800	Genic enhancers	Placenta	Placenta
36	chr19:18652000-18653000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:18652000-18653000	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr19:18652000-18653200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:18652000-18653600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:18652200-18652800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:18652200-18652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:18652200-18652800	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr19:18652200-18652800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr19:18652200-18652800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:18652200-18652800	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr19:18652200-18652800	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr19:18652200-18653000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:18652200-18653000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:18652200-18653000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:18652200-18653000	Strong transcription	Colonic Mucosa	Colon

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