Variant report

Variant	rs376555624
Chromosome Location	chr19:42653807-42653808
allele	C/T
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	EBF1	chr19:42653588-42653882	GM12878	blood:	n/a	chr19:42653723-42653734

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42652766..42655502-chr19:42672644..42674234,2	MCF-7	breast:
2	chr19:42650733..42654783-chr19:42655622..42659821,6	K562	blood:

Variant related genes	Relation type
ENSG00000259436	TF binding region
ENSG00000259436	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	esv3342196	chr19:42653537-42656085	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42637600-42658200	Weak transcription	Right Atrium	heart
2	chr19:42640200-42659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:42643200-42654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:42652000-42654400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr19:42652000-42654400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:42652000-42654400	Bivalent Enhancer	Fetal Thymus	thymus
7	chr19:42652200-42654200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:42652600-42658800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:42653000-42654000	Enhancers	Brain Germinal Matrix	brain
10	chr19:42653000-42654000	Bivalent Enhancer	NHEK	skin
11	chr19:42653000-42654400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:42653000-42656000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:42653200-42654000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:42653200-42654400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr19:42653200-42655000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:42653200-42661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:42653400-42654200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr19:42653400-42654200	Enhancers	Primary B cells from cord blood	blood
19	chr19:42653400-42654400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr19:42653400-42654400	Enhancers	Primary T cells from cord blood	blood
21	chr19:42653400-42655800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr19:42653400-42656400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr19:42653600-42654200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:42653600-42654400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr19:42653600-42655800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr19:42653600-42656400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr19:42653600-42659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:42653800-42654000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr19:42653800-42654000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:42653800-42654200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr19:42653800-42654200	Enhancers	Primary B cells from peripheral blood	blood
32	chr19:42653800-42654200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:42653800-42654200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:42653800-42654400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr19:42653800-42656400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:42653800-42657400	Enhancers	Fetal Brain Female	brain
37	chr19:42653800-42658000	Enhancers	Pancreas	Pancrea
38	chr19:42653800-42658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:42653800-42658600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:42653800-42660600	Enhancers	Fetal Brain Male	brain

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