Variant report

Variant	rs338597
Chromosome Location	chr19:41702235-41702236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:41702015-41702298	GM12891	blood:	n/a	n/a
2	BHLHE40	chr19:41702112-41702278	GM12878	blood:	n/a	n/a
3	EP300	chr19:41701991-41702391	GM12878	blood:	n/a	n/a
4	SPI1	chr19:41701978-41702283	GM12878	blood:	n/a	n/a
5	FOS	chr19:41702098-41702294	MCF10A-Er-Src	breast:	n/a	chr19:41702242-41702253
6	SPI1	chr19:41701729-41702503	GM12878	blood:	n/a	n/a
7	NRF1	chr19:41702041-41702340	GM12878	blood:	n/a	n/a
8	SPI1	chr19:41701941-41702312	GM12891	blood:	n/a	n/a
9	CTCF	chr19:41702140-41702290	NHEK	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41700366..41702638-chr19:41769140..41770960,2	MCF-7	breast:
2	chr19:41700466..41703429-chr19:41707889..41710444,2	K562	blood:
3	chr19:41700112..41702823-chr19:41703297..41705172,2	MCF-7	breast:
4	chr19:41698406..41703429-chr19:41707121..41711829,4	K562	blood:
5	chr19:41700678..41702956-chr19:41802683..41805056,2	K562	blood:

No data

Variant related genes	Relation type
CYP2S1	TF binding region
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs184623	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338595	1.00[ASN][1000 genomes]
rs338596	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv523521	chr19:41680424-41702426	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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:48 , 50 per page) page: 1

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	chr19:41700600-41702600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr19:41700600-41702600	Enhancers	A549	lung
7	chr19:41700600-41702800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41700600-41703000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:41700600-41704000	Weak transcription	Colonic Mucosa	Colon
10	chr19:41700600-41707000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:41700600-41714600	Weak transcription	Spleen	Spleen
12	chr19:41700800-41703000	Genic enhancers	H1 Cell Line	embryonic stem cell
13	chr19:41700800-41703000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:41700800-41703200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:41700800-41704200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:41700800-41704600	Weak transcription	Lung	lung
17	chr19:41700800-41705200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:41700800-41711400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:41701200-41702400	Enhancers	HMEC	breast
20	chr19:41701200-41704800	Strong transcription	Fetal Intestine Large	intestine
21	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:41701400-41702600	Enhancers	GM12878-XiMat	blood
23	chr19:41701400-41703000	Genic enhancers	Stomach Mucosa	stomach
24	chr19:41701600-41702400	Strong transcription	NHLF	lung
25	chr19:41701600-41702600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:41701600-41702600	Enhancers	NHEK	skin
27	chr19:41701600-41702800	Weak transcription	HepG2	liver
28	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
30	chr19:41701800-41702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:41701800-41702600	Enhancers	HSMMtube	muscle
32	chr19:41701800-41704600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:41701800-41711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:41702000-41702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:41702000-41702400	Enhancers	Esophagus	oesophagus
39	chr19:41702000-41702600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:41702000-41702600	Genic enhancers	Gastric	stomach
41	chr19:41702000-41702800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr19:41702000-41702800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:41702200-41702800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:41702200-41702800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:41702200-41703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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