Variant report

Variant	rs2231933
Chromosome Location	chr19:41946572-41946573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr19:41946371-41946579	HepG2	liver:	n/a	n/a
2	MAFK	chr19:41946349-41946641	HepG2	liver:	n/a	n/a
3	CTCF	chr19:41944770-41947242	A549	lung:	n/a	chr19:41945823-41945836
4	FOSL2	chr19:41945167-41946587	A549	lung:	n/a	chr19:41945496-41945505
5	SIX5	chr19:41944992-41946602	A549	lung:	n/a	n/a
6	CTCF	chr19:41946480-41946630	GM12873	blood:	n/a	n/a
7	MAFK	chr19:41946370-41946656	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41944180..41946970-chr7:80547778..80549990,2	MCF-7	breast:
2	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
3	chr19:41944238..41947062-chr19:41948910..41951983,5	K562	blood:
4	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:
5	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:
6	chr19:41903473..41906087-chr19:41945278..41947256,2	MCF-7	breast:
7	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
8	chr19:41940773..41942496-chr19:41944318..41947193,2	MCF-7	breast:
9	chr19:41901938..41905441-chr19:41944047..41947443,5	K562	blood:
10	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:
11	chr19:41944614..41946975-chr19:41948804..41950642,2	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf69	TF binding region
ATP5SL	TF binding region
ENSG00000268987	Chromatin interaction
ENSG00000075223	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000204978	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000077348	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10406198	0.82[AFR][1000 genomes]
rs10407077	0.82[AFR][1000 genomes]
rs10409823	0.91[AFR][1000 genomes]
rs10410282	0.91[AFR][1000 genomes]
rs10410801	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10415116	1.00[ASW][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10418899	1.00[ASW][hapmap];0.90[MKK][hapmap];0.91[AFR][1000 genomes]
rs10425351	0.91[AFR][1000 genomes]
rs11539797	1.00[ASW][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13343330	0.82[AFR][1000 genomes]
rs13346881	0.91[AFR][1000 genomes]
rs2231938	1.00[ASW][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2231933	LYPD4	cis	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41945200-41946800	Active TSS	Colon Smooth Muscle	Colon
2	chr19:41945800-41946600	Weak transcription	Stomach Mucosa	stomach
3	chr19:41945800-41947400	Weak transcription	Esophagus	oesophagus
4	chr19:41946000-41946600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:41946000-41946600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:41946000-41946800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:41946000-41946800	Enhancers	Spleen	Spleen
8	chr19:41946000-41947400	Weak transcription	NHEK	skin
9	chr19:41946000-41948600	Enhancers	Fetal Intestine Large	intestine
10	chr19:41946000-41948600	Enhancers	Fetal Intestine Small	intestine
11	chr19:41946000-41953000	Weak transcription	Right Atrium	heart
12	chr19:41946200-41946600	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:41946200-41946600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:41946200-41946600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr19:41946200-41946600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:41946200-41947400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:41946200-41947400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:41946200-41947400	Weak transcription	HMEC	breast
19	chr19:41946200-41948600	Weak transcription	Left Ventricle	heart
20	chr19:41946200-41949800	Weak transcription	GM12878-XiMat	blood
21	chr19:41946400-41946800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:41946400-41946800	Enhancers	K562	blood
23	chr19:41946400-41947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:41946400-41947400	Weak transcription	Placenta	Placenta
25	chr19:41946400-41947400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:41946400-41947600	Weak transcription	Primary B cells from cord blood	blood
27	chr19:41946400-41947600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:41946400-41947800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:41946400-41948400	Enhancers	HepG2	liver

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