Variant report

Variant	rs543376873
Chromosome Location	chr19:51322105-51322106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51314145..51316152-chr19:51321518..51323994,2	MCF-7	breast:
2	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
3	chr19:51316544..51318313-chr19:51321412..51323624,2	K562	blood:
4	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
5	chr19:51305829..51307927-chr19:51320436..51323745,3	MCF-7	breast:
6	chr19:51321294..51329149-chr19:51334672..51341529,13	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119
2	lnc-AC010325.1-1	chr19:51321486-51322105	XLOC_013119
3	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119
4	lnc-AC010325.1-1	chr19:51321391-51322133	XLOC_013119
5	lnc-AC010325.1-1	chr19:51321391-51322134	ENSG00000180279.5

No data

Variant related genes	Relation type
ENSG00000174562	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000167748	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv519121	chr19:51308092-51332670	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv516450	chr19:51321083-51322312	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv524637	chr19:51321083-51332670	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv523089	chr19:51321083-51336197	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51320800-51338800	Weak transcription	Right Atrium	heart
2	chr19:51321000-51322200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:51321000-51322200	Bivalent Enhancer	Spleen	Spleen
4	chr19:51321200-51322600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:51321400-51322200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:51321400-51322200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr19:51321400-51322200	Bivalent Enhancer	Right Ventricle	heart
8	chr19:51321400-51322400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
9	chr19:51321400-51322400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr19:51321400-51322800	Flanking Active TSS	Pancreas	Pancrea
11	chr19:51321400-51324000	Flanking Active TSS	GM12878-XiMat	blood
12	chr19:51321600-51322200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr19:51321600-51322200	Bivalent Enhancer	Placenta	Placenta
14	chr19:51321600-51322200	Flanking Active TSS	K562	blood
15	chr19:51321600-51322400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr19:51321600-51322400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr19:51321600-51322400	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr19:51321800-51322200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:51321800-51322200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr19:51321800-51322200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:51321800-51322200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:51321800-51322200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr19:51321800-51322200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:51321800-51322200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr19:51321800-51322200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr19:51321800-51322400	Bivalent Enhancer	Esophagus	oesophagus
27	chr19:51321800-51322800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:51321800-51323400	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr19:51321800-51327600	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:51322000-51322200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr19:51322000-51322200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:51322000-51322200	Flanking Bivalent TSS/Enh	A549	lung
33	chr19:51322000-51322200	Enhancers	HMEC	breast
34	chr19:51322000-51322400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr19:51322000-51322400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr19:51322000-51322400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:51322000-51323200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr19:51322000-51323200	Enhancers	Primary B cells from cord blood	blood

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