Variant report

Variant	rs561598126
Chromosome Location	chr19:39728245-39728246
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	ELF1	chr19:39728081-39728806	K562	blood:	n/a	n/a
2	POLR2A	chr19:39728171-39728409	GM12878	blood:	n/a	n/a
3	MAX	chr19:39728142-39728859	K562	blood:	n/a	chr19:39728753-39728763 chr19:39728844-39728854 chr19:39728797-39728807

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39727742..39730631-chr19:39743095..39745930,2	K562	blood:
2	chr19:39727142..39728696-chr19:39832975..39834941,2	K562	blood:

Variant related genes	Relation type
IFNL3P1	TF binding region
ENSG00000130755	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000213926	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518540	chr19:39697974-39731783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1796501	chr19:39723520-39740868	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3377837	chr19:39727555-39735103	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3510603	chr19:39727606-39735042	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3510604	chr19:39727606-39735042	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39726600-39729400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:39726800-39729200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr19:39727000-39728400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:39727200-39729000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:39727200-39729200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:39727200-39729800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:39727400-39728400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:39727400-39728400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:39728000-39728400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:39728000-39728400	Enhancers	Gastric	stomach
11	chr19:39728000-39728600	Flanking Active TSS	GM12878-XiMat	blood
12	chr19:39728000-39728800	Enhancers	Spleen	Spleen
13	chr19:39728000-39729000	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:39728000-39729000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:39728000-39729200	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:39728000-39729200	Enhancers	Placenta	Placenta
17	chr19:39728200-39728400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:39728200-39728400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:39728200-39728400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:39728200-39728400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr19:39728200-39728400	Flanking Active TSS	Pancreas	Pancrea
22	chr19:39728200-39728400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
23	chr19:39728200-39728400	Flanking Active TSS	Hela-S3	cervix
24	chr19:39728200-39728400	Enhancers	K562	blood
25	chr19:39728200-39728600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr19:39728200-39728600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:39728200-39728600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:39728200-39728800	Enhancers	Primary T cells from cord blood	blood
29	chr19:39728200-39728800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:39728200-39728800	Enhancers	Liver	Liver
34	chr19:39728200-39728800	Enhancers	Esophagus	oesophagus
35	chr19:39728200-39728800	Active TSS	A549	lung
36	chr19:39728200-39729000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:39728200-39729000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:39728200-39729000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr19:39728200-39729000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:39728200-39729000	Enhancers	Dnd41	blood
41	chr19:39728200-39729200	Enhancers	Stomach Mucosa	stomach
42	chr19:39728200-39729400	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links