Variant report

Variant	rs57347571
Chromosome Location	chr19:38779631-38779632
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38779327..38783351-chr19:38794485..38798006,3	K562	blood:
2	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf33-1	chr19:38779046-38780920	NONHSAT066197

Variant related genes	Relation type
ENSG00000099338	Chromatin interaction
ENSG00000167644	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153497	1.00[AMR][1000 genomes]
rs11880285	1.00[AMR][1000 genomes]
rs11881714	1.00[AMR][1000 genomes]
rs2286548	1.00[AMR][1000 genomes]
rs2302185	1.00[AMR][1000 genomes]
rs45589333	1.00[AMR][1000 genomes]
rs57249964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57361474	1.00[AMR][1000 genomes]
rs57874113	0.86[AFR][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58490212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58591078	1.00[AMR][1000 genomes]
rs59047386	1.00[AMR][1000 genomes]
rs59776537	1.00[AMR][1000 genomes]
rs59845491	1.00[AMR][1000 genomes]
rs60068553	1.00[AMR][1000 genomes]
rs60491875	1.00[AMR][1000 genomes]
rs61648033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
2	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
3	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
4	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:38769800-38780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:38770000-38780600	Weak transcription	Brain Germinal Matrix	brain
7	chr19:38770800-38785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
9	chr19:38772600-38782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:38772800-38780800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:38772800-38780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:38772800-38784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:38773000-38780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:38773000-38785400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:38773000-38787800	Strong transcription	Fetal Intestine Small	intestine
16	chr19:38773200-38785600	Strong transcription	Fetal Intestine Large	intestine
17	chr19:38773600-38780800	Weak transcription	Right Ventricle	heart
18	chr19:38773800-38784000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:38774000-38783200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38774000-38785000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:38774000-38785600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:38774400-38780200	Strong transcription	HMEC	breast
23	chr19:38774800-38784000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:38775000-38784200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr19:38775200-38781000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:38775200-38781200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr19:38775800-38791000	Weak transcription	Liver	Liver
28	chr19:38776000-38784000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:38776000-38784200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:38776800-38780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:38776800-38780800	Weak transcription	Osteobl	bone
32	chr19:38776800-38781000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:38777000-38780200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:38777000-38780600	Weak transcription	NHDF-Ad	bronchial
35	chr19:38777000-38781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:38777000-38781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:38777000-38781000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:38777000-38791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:38777200-38780200	Weak transcription	Ovary	ovary
40	chr19:38777200-38780600	Weak transcription	Stomach Mucosa	stomach
41	chr19:38778000-38781600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:38778000-38785400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:38778000-38785400	Genic enhancers	Placenta	Placenta
44	chr19:38778200-38779800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:38778200-38779800	Enhancers	Brain Cingulate Gyrus	brain
46	chr19:38778200-38780800	Strong transcription	A549	lung
47	chr19:38778200-38781000	Strong transcription	Colonic Mucosa	Colon
48	chr19:38778200-38782200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:38778200-38782800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:38778200-38783600	Strong transcription	H9 Cell Line	embryonic stem cell

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