Variant report

Variant	rs552119071
Chromosome Location	chr19:55953341-55953342
allele	A/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55951074..55953797-chr19:55995529..55999073,3	K562	blood:
2	chr19:55791270..55793357-chr19:55950803..55953451,2	K562	blood:
3	chr19:55897252..55900237-chr19:55952546..55954535,2	K562	blood:
4	chr19:55949680..55954432-chr19:55969839..55974899,6	K562	blood:
5	chr19:55917160..55920807-chr19:55952217..55954554,6	K562	blood:
6	chr19:55767479..55769662-chr19:55951902..55953549,2	MCF-7	breast:
7	chr19:55896562..55898629-chr19:55953119..55955892,2	MCF-7	breast:
8	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
9	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:
10	chr19:55766019..55768173-chr19:55952216..55954290,2	K562	blood:
11	chr19:55910844..55913006-chr19:55952542..55954951,2	K562	blood:
12	chr19:55726934..55728897-chr19:55951676..55953853,3	K562	blood:
13	chr19:55947182..55950388-chr19:55950441..55953664,3	K562	blood:
14	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
15	chr19:55950796..55953996-chr19:55973168..55975458,3	K562	blood:
16	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
17	chr19:55950723..55953824-chr19:55986697..55989266,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090971	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105063	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	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	esv3376613	chr19:55952665-55955513	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3422614	chr19:55952890-55955638	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55941200-55953400	Weak transcription	Right Atrium	heart
2	chr19:55951400-55953600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:55951600-55953400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:55951600-55953400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:55951600-55953600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
8	chr19:55951600-55953600	Bivalent Enhancer	Fetal Thymus	thymus
9	chr19:55951600-55953800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:55951600-55955200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr19:55951600-55955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:55951800-55953400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr19:55951800-55953400	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr19:55951800-55953400	Bivalent Enhancer	Spleen	Spleen
15	chr19:55951800-55953600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:55951800-55953600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:55951800-55953600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr19:55951800-55953600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr19:55951800-55953800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr19:55951800-55954800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:55951800-55955000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:55952000-55953600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr19:55952000-55953600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:55952000-55954000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr19:55952000-55954600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr19:55952000-55954800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr19:55952000-55955200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr19:55952200-55953400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:55952200-55953400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr19:55952200-55953400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr19:55952200-55953400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:55952200-55953400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr19:55952200-55953400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr19:55952200-55953600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr19:55952200-55953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:55952200-55953600	Bivalent Enhancer	Esophagus	oesophagus
37	chr19:55952200-55953800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr19:55952200-55955400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:55952400-55953400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr19:55952400-55953400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:55952400-55953400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr19:55952400-55954200	Weak transcription	Pancreas	Pancrea
43	chr19:55952600-55953400	Bivalent Enhancer	Fetal Brain Female	brain
44	chr19:55952600-55953600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:55952600-55953600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr19:55952600-55953600	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr19:55952600-55953600	Bivalent Enhancer	HMEC	breast
48	chr19:55952600-55954200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:55952600-55954800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:55952800-55953400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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