Variant report

Variant	rs198967
Chromosome Location	chr19:51413021-51413022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr19:51412444-51413137	H1-hESC	embryonic stem cell:	n/a	chr19:51412911-51412922 chr19:51412456-51412472 chr19:51412834-51412845 chr19:51412454-51412470
2	IRF1	chr19:51412522-51413119	K562	blood:	n/a	n/a
3	MAZ	chr19:51412582-51413191	K562	blood:	n/a	n/a
4	RXRA	chr19:51412886-51413260	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr19:51412912-51413274	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr19:51412375-51413369	H1-hESC	embryonic stem cell:	n/a	chr19:51412911-51412922 chr19:51412834-51412845 chr19:51412458-51412467 chr19:51412457-51412466 chr19:51412456-51412468 chr19:51412476-51412490 chr19:51412457-51412466 chr19:51412456-51412468 chr19:51412457-51412467 chr19:51412457-51412467 chr19:51412482-51412492
7	SP4	chr19:51412535-51413274	H1-hESC	embryonic stem cell:	n/a	chr19:51412911-51412922 chr19:51412834-51412845
8	YY1	chr19:51412996-51413415	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr19:51357203..51359934-chr19:51411354..51413552,2	K562	blood:

Variant related genes	Relation type
KLK4	TF binding region
ENSG00000197588	Chromatin interaction
ENSG00000268375	Chromatin interaction
ENSG00000142515	Chromatin interaction
ENSG00000167747	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1610231	1.00[ASW][hapmap];0.93[LWK][hapmap]
rs17714461	1.00[ASW][hapmap]
rs189903	0.80[YRI][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs198967	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
2	chr19:51411800-51413400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:51412200-51413200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:51412200-51413200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:51412200-51413200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr19:51412200-51413400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:51412200-51413600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:51412200-51413600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:51412200-51413600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:51412200-51414000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:51412400-51413200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:51412400-51413200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr19:51412400-51413200	Bivalent Enhancer	Fetal Brain Male	brain
14	chr19:51412400-51413400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:51412400-51413400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:51412600-51413200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:51412600-51413200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:51412600-51413600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr19:51412800-51413200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr19:51412800-51413200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:51412800-51413200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:51412800-51413200	Bivalent Enhancer	Fetal Brain Female	brain
23	chr19:51412800-51413200	Bivalent/Poised TSS	Right Ventricle	heart
24	chr19:51412800-51413400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr19:51413000-51413200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr19:51413000-51413200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:51413000-51413200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:51413000-51413200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:51413000-51413200	Bivalent/Poised TSS	A549	lung
30	chr19:51413000-51413200	Flanking Active TSS	K562	blood

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