Variant report

Variant	rs548719595
Chromosome Location	chr19:55952760-55952761
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 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	chr19:55626730..55629405-chr19:55950421..55953047,2	K562	blood:
6	chr19:55692071..55693997-chr19:55950294..55952770,2	K562	blood:
7	chr19:55917160..55920807-chr19:55952217..55954554,6	K562	blood:
8	chr19:55767479..55769662-chr19:55951902..55953549,2	MCF-7	breast:
9	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
10	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:
11	chr19:55766019..55768173-chr19:55952216..55954290,2	K562	blood:
12	chr19:55910844..55913006-chr19:55952542..55954951,2	K562	blood:
13	chr19:55726934..55728897-chr19:55951676..55953853,3	K562	blood:
14	chr19:55947182..55950388-chr19:55950441..55953664,3	K562	blood:
15	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
16	chr19:55950796..55953996-chr19:55973168..55975458,3	K562	blood:
17	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
18	chr19:55950723..55953824-chr19:55986697..55989266,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000063241	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000179922	Chromatin interaction

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	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

No data

Chromatin state (count:77 , 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	chr19:55951600-55952800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr19:55951600-55953000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr19:55951600-55953000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr19:55951600-55953200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:55951600-55953400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:55951600-55953400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:55951600-55953600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr19:55951600-55953600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr19:55951600-55953800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:55951600-55955200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:55951600-55955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr19:55951800-55952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:55951800-55953000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:55951800-55953400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr19:55951800-55953400	Bivalent Enhancer	Colonic Mucosa	Colon
20	chr19:55951800-55953400	Bivalent Enhancer	Spleen	Spleen
21	chr19:55951800-55953600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:55951800-55953600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:55951800-55953600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr19:55951800-55953600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr19:55951800-55953800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr19:55951800-55954800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:55951800-55955000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr19:55952000-55953000	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr19:55952000-55953000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr19:55952000-55953000	Enhancers	Brain Substantia Nigra	brain
31	chr19:55952000-55953200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:55952000-55953200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr19:55952000-55953600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr19:55952000-55953600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:55952000-55954000	Bivalent Enhancer	Fetal Brain Male	brain
36	chr19:55952000-55954600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr19:55952000-55954800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr19:55952000-55955200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr19:55952200-55952800	Bivalent Enhancer	Primary T cells from cord blood	blood
40	chr19:55952200-55952800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr19:55952200-55953200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:55952200-55953400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:55952200-55953400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr19:55952200-55953400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr19:55952200-55953400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:55952200-55953400	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr19:55952200-55953400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr19:55952200-55953600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr19:55952200-55953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:55952200-55953600	Bivalent Enhancer	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links