Variant report

Variant	rs338596
Chromosome Location	chr19:41702426-41702427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:41701729-41702503	GM12878	blood:	n/a	n/a

No data

(count:6 , 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	chr19:41698446..41700013-chr19:41702267..41703970,2	MCF-7	breast:
5	chr19:41698406..41703429-chr19:41707121..41711829,4	K562	blood:
6	chr19:41700678..41702956-chr19:41802683..41805056,2	K562	blood:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs184623	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs338583	0.83[JPT][hapmap]
rs338584	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs338593	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs338594	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs338595	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs338597	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:47 , 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	chr19:41701200-41704800	Strong transcription	Fetal Intestine Large	intestine
20	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:41701400-41702600	Enhancers	GM12878-XiMat	blood
22	chr19:41701400-41703000	Genic enhancers	Stomach Mucosa	stomach
23	chr19:41701600-41702600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:41701600-41702600	Enhancers	NHEK	skin
25	chr19:41701600-41702800	Weak transcription	HepG2	liver
26	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
28	chr19:41701800-41702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:41701800-41702600	Enhancers	HSMMtube	muscle
30	chr19:41701800-41704600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:41701800-41711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:41702000-41702600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:41702000-41702600	Genic enhancers	Gastric	stomach
37	chr19:41702000-41702800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr19:41702000-41702800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:41702200-41702800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:41702200-41702800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr19:41702200-41703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:41702400-41702600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:41702400-41703800	Weak transcription	NHLF	lung
47	chr19:41702400-41704600	Weak transcription	Esophagus	oesophagus

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