Variant report

Variant	rs338587
Chromosome Location	chr19:41711608-41711609
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41698406..41703429-chr19:41707121..41711829,4	K562	blood:
2	chr19:41708236..41711683-chr19:41767737..41770848,3	MCF-7	breast:
3	chr19:41711572..41712536-chr19:41767839..41768829,4	MCF-7	breast:
4	chr19:41710873..41712522-chr19:41830997..41833166,2	K562	blood:
5	chr19:41710998..41712626-chr19:41765390..41767317,2	K562	blood:
6	chr19:41710579..41716236-chr19:41767651..41773158,11	K562	blood:
7	chr19:41709626..41713446-chr19:41767553..41770209,4	MCF-7	breast:
8	chr19:41708734..41715779-chr19:41765259..41771124,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1628289	0.94[ASN][1000 genomes]
rs338585	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338589	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254036	0.95[ASN][1000 genomes]
rs8100811	0.91[ASN][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	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41700600-41714600	Weak transcription	Spleen	Spleen
6	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
9	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:41702600-41711800	Weak transcription	NHEK	skin
16	chr19:41702600-41712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:41702800-41713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:41702800-41713800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:41703000-41714600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr19:41704800-41711800	Weak transcription	Stomach Mucosa	stomach
21	chr19:41704800-41712200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:41705000-41711800	Weak transcription	Lung	lung
23	chr19:41705000-41712000	Weak transcription	Colonic Mucosa	Colon
24	chr19:41705200-41712000	Weak transcription	NHLF	lung
25	chr19:41705400-41713200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:41706400-41713800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:41706800-41712000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:41707000-41713800	Strong transcription	Fetal Intestine Large	intestine
29	chr19:41707800-41711800	Weak transcription	Gastric	stomach
30	chr19:41707800-41723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:41708400-41711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:41708400-41712800	Weak transcription	Small Intestine	intestine
33	chr19:41710200-41716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:41710400-41711800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:41710400-41711800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:41710400-41712000	Weak transcription	K562	blood
37	chr19:41710400-41722400	Weak transcription	HepG2	liver
38	chr19:41710600-41712000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:41710600-41713000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:41710800-41713600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr19:41711000-41712800	Weak transcription	Right Ventricle	heart
42	chr19:41711000-41713400	Strong transcription	Fetal Stomach	stomach
43	chr19:41711000-41713800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr19:41711200-41711800	Strong transcription	A549	lung
45	chr19:41711200-41713600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr19:41711400-41712000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:41711400-41713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:41711400-41713400	Strong transcription	Esophagus	oesophagus
49	chr19:41711400-41713800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:41711400-41713800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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