Variant report

Variant	rs111396399
Chromosome Location	chr19:18552814-18552815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:18552812-18553088	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:18552675-18553464	GM12878	blood:	n/a	n/a
3	NFATC1	chr19:18552492-18553198	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:18552705-18553231	GM12891	blood:	n/a	n/a
5	YY1	chr19:18552517-18552917	K562	blood:	n/a	n/a
6	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
7	CBX3	chr19:18552735-18553015	K562	blood:	n/a	n/a
8	EGR1	chr19:18552396-18553538	K562	blood:	n/a	chr19:18552562-18552572 chr19:18552568-18552581 chr19:18552567-18552582 chr19:18552569-18552578 chr19:18552573-18552583 chr19:18552568-18552581 chr19:18552562-18552575
9	EGR1	chr19:18552448-18553531	K562	blood:	n/a	chr19:18552562-18552572 chr19:18552568-18552581 chr19:18552567-18552582 chr19:18552569-18552578 chr19:18552573-18552583 chr19:18552568-18552581 chr19:18552562-18552575
10	CBX3	chr19:18552322-18553236	K562	blood:	n/a	n/a
11	TAL1	chr19:18552515-18552949	K562	blood:	n/a	chr19:18552655-18552673
12	POLR2A	chr19:18550619-18553582	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:18552234-18553014	K562	blood:	n/a	n/a
14	PML	chr19:18552482-18553005	K562	blood:	n/a	n/a
15	NFATC1	chr19:18552691-18552982	GM12878	blood:	n/a	n/a
16	NR2F2	chr19:18552365-18553002	K562	blood:	n/a	n/a
17	NR2F2	chr19:18552468-18553018	K562	blood:	n/a	n/a
18	EGR1	chr19:18552725-18552898	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:18550683-18553505	GM12878	blood:	n/a	n/a
20	BHLHE40	chr19:18552765-18552888	K562	blood:	n/a	n/a
21	FOSL2	chr19:18549286-18553091	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:18552651-18553364	GM12892	blood:	n/a	n/a
23	REST	chr19:18552565-18552835	K562	blood:	n/a	n/a
24	MAX	chr19:18552330-18553032	K562	blood:	n/a	n/a
25	ZBTB7A	chr19:18552525-18552845	K562	blood:	n/a	n/a
26	POLR2A	chr19:18552627-18553369	GM12891	blood:	n/a	n/a
27	STAT5A	chr19:18548892-18553469	GM12878	blood:	n/a	chr19:18548988-18549000 chr19:18552557-18552569 chr19:18548983-18548995 chr19:18549005-18549017
28	RCOR1	chr19:18552371-18552932	K562	blood:	n/a	n/a
29	MTA3	chr19:18552714-18553097	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:18552646-18553306	GM12891	blood:	n/a	n/a
31	POLR2A	chr19:18552793-18553343	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:18552724-18553219	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:18552728-18553232	MCF-7	breast:	n/a	n/a
34	POLR2A	chr19:18552732-18553253	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:18552796-18553464	HepG2	liver:	n/a	n/a
36	GABPA	chr19:18552420-18553109	K562	blood:	n/a	n/a
37	JUND	chr19:18552588-18552816	K562	blood:	n/a	n/a
38	RCOR1	chr19:18552354-18552934	K562	blood:	n/a	n/a
39	POLR2A	chr19:18550597-18553492	GM12892	blood:	n/a	n/a
40	STAT5A	chr19:18552653-18553340	GM12878	blood:	n/a	n/a
41	MAZ	chr19:18552566-18553013	K562	blood:	n/a	n/a
42	TEAD4	chr19:18552347-18553448	K562	blood:	n/a	n/a
43	STAT5A	chr19:18549114-18553539	K562	blood:	n/a	chr19:18552557-18552569
44	RUNX3	chr19:18552582-18553507	GM12878	blood:	n/a	chr19:18553012-18553027 chr19:18552981-18552996
45	POLR2A	chr19:18550978-18553248	GM12892	blood:	n/a	n/a
46	EP300	chr19:18552562-18552828	K562	blood:	n/a	n/a
47	POLR2A	chr19:18552780-18553401	GM12878	blood:	n/a	n/a
48	RUNX3	chr19:18552541-18553420	GM12878	blood:	n/a	chr19:18553012-18553027 chr19:18552981-18552996
49	CTCF	chr19:18552784-18553111	GM19239	blood:	n/a	n/a
50	TEAD4	chr19:18552479-18552991	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18552619..18554243-chr19:18681800..18683781,2	K562	blood:
2	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
3	chr19:18552236..18554463-chr19:18572240..18574871,2	K562	blood:

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000221983	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	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
11	esv3401601	chr19:18551998-18554482	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18548600-18554200	Weak transcription	Dnd41	blood
3	chr19:18548800-18553200	Weak transcription	Fetal Kidney	kidney
4	chr19:18548800-18554200	Weak transcription	NHDF-Ad	bronchial
5	chr19:18549200-18554200	Enhancers	Placenta	Placenta
6	chr19:18549200-18554400	Weak transcription	Primary B cells from cord blood	blood
7	chr19:18549200-18559600	Weak transcription	HSMM	muscle
8	chr19:18549200-18566200	Weak transcription	HUVEC	blood vessel
9	chr19:18549400-18553400	Enhancers	Fetal Intestine Large	intestine
10	chr19:18549400-18554000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:18549400-18554600	Weak transcription	Brain Angular Gyrus	brain
12	chr19:18549400-18556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:18549600-18553000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:18549600-18553000	Weak transcription	Gastric	stomach
15	chr19:18549600-18553400	Enhancers	Fetal Intestine Small	intestine
16	chr19:18549600-18553400	Enhancers	Pancreas	Pancrea
17	chr19:18549600-18554000	Weak transcription	Brain Germinal Matrix	brain
18	chr19:18549600-18554200	Weak transcription	Brain Substantia Nigra	brain
19	chr19:18549600-18554400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:18549600-18554400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:18549800-18553200	Weak transcription	Colonic Mucosa	Colon
22	chr19:18549800-18553400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18549800-18554000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr19:18549800-18554200	Weak transcription	Fetal Brain Female	brain
25	chr19:18549800-18554600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:18549800-18567000	Weak transcription	Psoas Muscle	Psoas
27	chr19:18550000-18553800	Weak transcription	Left Ventricle	heart
28	chr19:18550000-18553800	Weak transcription	Right Ventricle	heart
29	chr19:18550000-18553800	Weak transcription	Thymus	Thymus
30	chr19:18550000-18554000	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:18550000-18554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:18550000-18554400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:18550000-18554400	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:18550200-18553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:18550200-18554400	Weak transcription	Adipose Nuclei	Adipose
36	chr19:18550200-18554600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:18550200-18559600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:18550400-18553800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:18550400-18554000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:18550400-18554400	Weak transcription	Aorta	Aorta
41	chr19:18550400-18554400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:18550400-18557200	Weak transcription	Fetal Lung	lung
43	chr19:18550600-18553000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:18550600-18553000	Weak transcription	Esophagus	oesophagus
45	chr19:18550600-18553600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr19:18550600-18553800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr19:18550600-18553800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr19:18550600-18554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:18550600-18554600	Weak transcription	Osteobl	bone
50	chr19:18550600-18562000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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