Variant report

Variant	rs338589
Chromosome Location	chr19:41710559-41710560
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr19:41710333..41710841-chr19:41859735..41860515,2	K562	blood:
4	chr19:41710273..41710787-chr19:41859686..41860251,2	MCF-7	breast:
5	chr19:41709766..41710945-chr19:41767825..41768718,5	MCF-7	breast:
6	chr19:41709626..41713446-chr19:41767553..41770209,4	MCF-7	breast:
7	chr19:41709961..41710916-chr19:41766604..41767721,3	K562	blood:
8	chr19:41709937..41710810-chr19:41814166..41815131,2	MCF-7	breast:
9	chr19:41709754..41710853-chr19:41767340..41768774,11	MCF-7	breast:
10	chr19:41709903..41710828-chr19:41814558..41815062,3	K562	blood:
11	chr19:41708734..41715779-chr19:41765259..41771124,12	K562	blood:
12	chr19:41709869..41710870-chr19:41767857..41768871,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142046	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction
ENSG00000105329	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	0.91[ASN][1000 genomes]
rs338585	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs338586	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs338587	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254036	0.91[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:56 , 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	chr19:41700800-41711400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
10	chr19:41701800-41711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:41702600-41711800	Weak transcription	NHEK	skin
18	chr19:41702600-41712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:41702800-41713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41702800-41713800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:41703000-41714600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr19:41704800-41711800	Weak transcription	Stomach Mucosa	stomach
23	chr19:41704800-41712200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:41705000-41711800	Weak transcription	Lung	lung
25	chr19:41705000-41712000	Weak transcription	Colonic Mucosa	Colon
26	chr19:41705200-41711400	Weak transcription	Esophagus	oesophagus
27	chr19:41705200-41712000	Weak transcription	NHLF	lung
28	chr19:41705400-41713200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:41706400-41713800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:41706800-41712000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:41707000-41710600	Strong transcription	Fetal Stomach	stomach
32	chr19:41707000-41713800	Strong transcription	Fetal Intestine Large	intestine
33	chr19:41707400-41710600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:41707800-41711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:41707800-41711800	Weak transcription	Gastric	stomach
36	chr19:41707800-41723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr19:41708400-41711600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:41708400-41711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:41708400-41712800	Weak transcription	Small Intestine	intestine
40	chr19:41708600-41711200	Weak transcription	A549	lung
41	chr19:41708600-41711600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:41709600-41711000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:41709600-41711400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:41709600-41711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:41710000-41710600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:41710000-41710800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:41710200-41710600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:41710200-41710600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:41710200-41711000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr19:41710200-41716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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