Variant report

Variant	rs545757014
Chromosome Location	chr19:42037394-42037395
allele	A/G
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	TAF1	chr19:42037210-42037570	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:42035639-42038770	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:42035603-42038761	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:42037312-42038131	HUVEC	blood vessel:	n/a	n/a
5	FOXP2	chr19:42036977-42037655	SK-N-MC	brain:	n/a	n/a
6	GATA2	chr19:42036805-42038499	HUVEC	blood vessel:	n/a	chr19:42037364-42037378
7	FOXA1	chr19:42037236-42037613	T-47D	breast:	n/a	n/a
8	POLR2A	chr19:42035835-42038400	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:42036966-42038325	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr19:42037347-42038286	GM12891	blood:	n/a	n/a
11	RUNX3	chr19:42037051-42038600	GM12878	blood:	n/a	n/a
12	HDAC2	chr19:42037155-42037649	MCF-7	breast:	n/a	n/a
13	SIN3AK20	chr19:42037047-42037690	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr19:42037168-42037557	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:42037393-42038119	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:42035831-42038634	GM18505	blood:	n/a	n/a
17	POLR2A	chr19:42036880-42038248	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:42036953-42037848	PFSK-1	brain:	n/a	n/a
19	GATA3	chr19:42036992-42037757	MCF-7	breast:	n/a	chr19:42037366-42037374
20	FOXA1	chr19:42037204-42037605	T-47D	breast:	n/a	n/a
21	SETDB1	chr19:42034208-42038482	U2OS	brain:	n/a	n/a
22	FOS	chr19:42036986-42038293	HUVEC	blood vessel:	n/a	chr19:42038013-42038022
23	POLR2A	chr19:42037008-42038245	GM12892	blood:	n/a	n/a
24	GATA3	chr19:42037162-42037574	T-47D	breast:	n/a	chr19:42037366-42037374
25	RUNX3	chr19:42035847-42038620	GM12878	blood:	n/a	chr19:42036623-42036632 chr19:42036623-42036632
26	GATA3	chr19:42037096-42037670	MCF-7	breast:	n/a	chr19:42037366-42037374
27	POLR2A	chr19:42036989-42037610	HL-60	blood:	n/a	n/a
28	GATA3	chr19:42037151-42037544	T-47D	breast:	n/a	chr19:42037366-42037374
29	POLR2A	chr19:42037001-42038122	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:42035800-42038175	GM12891	blood:	n/a	n/a
31	POLR2A	chr19:42036915-42038505	HUVEC	blood vessel:	n/a	n/a
32	SPI1	chr19:42036929-42037763	HL-60	blood:	n/a	n/a
33	POLR2A	chr19:42035515-42038686	GM12891	blood:	n/a	n/a
34	CEBPB	chr19:42037315-42037604	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:42035667-42038718	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:42036098-42038153	HUVEC	blood vessel:	n/a	n/a
37	JUN	chr19:42037068-42038375	HUVEC	blood vessel:	n/a	chr19:42038013-42038022
38	REST	chr19:42037060-42037565	PFSK-1	brain:	n/a	n/a
39	GATA2	chr19:42037356-42037589	SH-SY5Y	brain:	n/a	chr19:42037364-42037378
40	GATA3	chr19:42037183-42037528	MCF-7	breast:	n/a	chr19:42037366-42037374
41	POLR2A	chr19:42036976-42038544	HL-60	blood:	n/a	n/a
42	POLR2A	chr19:42036981-42038347	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000270164	TF binding region
ENSG00000268355	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42029800-42037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:42033600-42037600	ZNF genes & repeats	GM12878-XiMat	blood
3	chr19:42034000-42037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:42035000-42038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:42035200-42037600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr19:42035600-42037400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr19:42035600-42037400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:42036000-42037400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:42036200-42038000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:42036200-42038200	Active TSS	HSMMtube	muscle
11	chr19:42036400-42038400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:42036600-42037400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42036600-42038000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr19:42036600-42038800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:42036600-42038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42036800-42037400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:42036800-42037400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr19:42036800-42037600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:42036800-42038000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:42036800-42038000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:42036800-42038000	Enhancers	Spleen	Spleen
22	chr19:42036800-42038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:42036800-42039400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr19:42037000-42037400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:42037000-42037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:42037000-42037400	Flanking Bivalent TSS/Enh	Thymus	Thymus
27	chr19:42037000-42037400	Enhancers	HUVEC	blood vessel
28	chr19:42037000-42037800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr19:42037000-42037800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr19:42037000-42037800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:42037000-42037800	Weak transcription	Lung	lung
32	chr19:42037000-42038600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr19:42037000-42038800	Enhancers	Fetal Muscle Leg	muscle
34	chr19:42037200-42037400	Enhancers	NHDF-Ad	bronchial
35	chr19:42037200-42037600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:42037200-42037600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:42037200-42037800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:42037200-42038000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr19:42037200-42038000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:42037200-42038000	Enhancers	HMEC	breast
41	chr19:42037200-42038400	Weak transcription	Left Ventricle	heart
42	chr19:42037200-42038600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:42037200-42038800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr19:42037200-42042200	Enhancers	Primary monocytes fromperipheralblood	blood

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