Variant report

Variant	rs57361474
Chromosome Location	chr19:38904941-38904942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38894530..38897430-chr19:38903995..38905523,2	K562	blood:
2	chr19:38904074..38906079-chr19:38915265..38916795,2	K562	blood:
3	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
4	chr19:38904010..38905824-chr19:38923192..38926019,2	K562	blood:
5	chr19:38902468..38905281-chr19:38906222..38909394,4	K562	blood:
6	chr19:38902829..38905069-chr19:38921076..38923752,2	K562	blood:
7	chr19:38902498..38904989-chr19:38906494..38908347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196218	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

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[AMR][1000 genomes]
rs57347571	1.00[AMR][1000 genomes]
rs57355753	1.00[ASN][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58468353	1.00[ASN][1000 genomes]
rs58490212	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]
rs61604854	1.00[ASN][1000 genomes]
rs61648033	1.00[AMR][1000 genomes]
rs9916978	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:38894600-38907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:38894600-38908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr19:38894600-38908400	Weak transcription	Left Ventricle	heart
5	chr19:38894600-38908400	Weak transcription	HUVEC	blood vessel
6	chr19:38894800-38908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:38894800-38908400	Weak transcription	Small Intestine	intestine
8	chr19:38895000-38905800	Weak transcription	Brain Germinal Matrix	brain
9	chr19:38895000-38907800	Weak transcription	GM12878-XiMat	blood
10	chr19:38895000-38908000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:38895000-38908400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:38895200-38906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:38895200-38907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:38895200-38908200	Weak transcription	Fetal Thymus	thymus
15	chr19:38895400-38907800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:38895400-38908000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:38895600-38906000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:38895800-38907600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:38897800-38907600	Weak transcription	Esophagus	oesophagus
20	chr19:38897800-38908400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:38898000-38905000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:38898000-38906000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:38898000-38907800	Weak transcription	Primary B cells from cord blood	blood
24	chr19:38898000-38908000	Weak transcription	Pancreas	Pancrea
25	chr19:38898000-38908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:38898000-38908200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:38898000-38908400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:38898000-38908400	Weak transcription	Brain Anterior Caudate	brain
29	chr19:38898000-38908400	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:38898000-38908400	Weak transcription	Gastric	stomach
31	chr19:38898000-38908400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:38898000-38908600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:38898000-38908600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:38898200-38908000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:38898200-38908600	Weak transcription	Fetal Lung	lung
36	chr19:38898800-38907600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr19:38898800-38907600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:38898800-38907800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:38898800-38908200	Weak transcription	Primary T cells from cord blood	blood
40	chr19:38899200-38906200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:38899200-38908000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:38899400-38907800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:38899600-38907600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:38899800-38908000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:38900000-38908200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:38900000-38908200	Weak transcription	Fetal Intestine Small	intestine
47	chr19:38900000-38908400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:38900200-38907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:38900200-38908800	Weak transcription	Liver	Liver
50	chr19:38900600-38908000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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