Variant report

Variant	rs2242670
Chromosome Location	chr19:51412315-51412316
allele	C/T
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	chr19:51306023..51307815-chr19:51411885..51414130,3	K562	blood:
2	chr19:51305909..51308309-chr19:51411302..51414101,3	MCF-7	breast:
3	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:
4	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
5	chr19:51295380..51297114-chr19:51411572..51413706,2	K562	blood:
6	chr19:51159603..51162470-chr19:51410847..51412748,2	K562	blood:
7	chr19:51287088..51289490-chr19:51410149..51412690,2	MCF-7	breast:
8	chr19:51357203..51359934-chr19:51411354..51413552,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261341	Chromatin interaction
ENSG00000268375	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000235034	Chromatin interaction
ENSG00000197588	Chromatin interaction
ENSG00000142515	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1654551	1.00[JPT][hapmap]
rs2979452	0.86[JPT][hapmap]

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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2242670	NLRP7	cis	parietal	SCAN
rs2242670	HSPBP1	cis	parietal	SCAN
rs2242670	ZNF329	cis	cerebellum	SCAN
rs2242670	ZNF548	cis	parietal	SCAN
rs2242670	ZNF418	cis	parietal	SCAN
rs2242670	PRPF31	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51409600-51412600	Weak transcription	GM12878-XiMat	blood
2	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
3	chr19:51411200-51412800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:51411600-51412400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51411800-51412400	Bivalent Enhancer	Colonic Mucosa	Colon
6	chr19:51411800-51413400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:51412000-51412400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr19:51412000-51412400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
9	chr19:51412200-51412400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:51412200-51412400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr19:51412200-51412400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr19:51412200-51412400	Enhancers	K562	blood
13	chr19:51412200-51412600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:51412200-51412600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:51412200-51412600	Bivalent/Poised TSS	A549	lung
16	chr19:51412200-51412800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:51412200-51412800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr19:51412200-51413200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:51412200-51413200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:51412200-51413200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr19:51412200-51413400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr19:51412200-51413600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:51412200-51413600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:51412200-51413600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr19:51412200-51414000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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