Variant report

Variant	rs11847976
Chromosome Location	chr14:105390511-105390512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr14:105390501-105390798	K562	blood:	n/a	n/a
2	STAT5A	chr14:105390454-105391044	GM12878	blood:	n/a	chr14:105390515-105390527
3	KAP1	chr14:105390411-105390941	HEK293	kidney:	n/a	n/a
4	USF1	chr14:105390509-105390786	K562	blood:	n/a	n/a
5	CBX3	chr14:105390458-105390893	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105390511-105390561	SK-N-SH_RA	brain:	n/a
2	chr14:105390511-105390561	A549	lung:	n/a
3	chr14:105390511-105390561	RPTEC	kidney:	n/a
4	chr14:105390511-105390561	NHDF-neo	bronchial:	n/a
5	chr14:105390511-105390561	NHBE	bronchial:	n/a
6	chr14:105390511-105390561	HEEpiC	esophagus:	n/a
7	chr14:105390511-105390561	HCF	heart:	n/a
8	chr14:105390511-105390561	HMEC	breast:	n/a
9	chr14:105390511-105390561	ProgFib	skin:	n/a
10	chr14:105390511-105390561	HRE	kidney:	n/a
11	chr14:105390511-105390561	PrEC	prostate:	n/a
12	chr14:105390511-105390561	U87	brain:	n/a
13	chr14:105390511-105390561	HCM	heart:	n/a
14	chr14:105390511-105390561	SKMC	muscle:	n/a
15	chr14:105390511-105390561	Jurkat	blood:	n/a
16	chr14:105390511-105390561	AG09319	gingival:	n/a
17	chr14:105390511-105390561	Hepatocyte	liver:	n/a
18	chr14:105390511-105390561	CMK	blood:	n/a
19	chr14:105390511-105390561	NH-A	brain:	n/a
20	chr14:105390511-105390561	NB4	blood:	n/a
21	chr14:105390511-105390561	Caco-2	colon:	n/a
22	chr14:105390511-105390561	BJ	skin:	n/a
23	chr14:105390511-105390561	ovcar-3	ovarian:	n/a
24	chr14:105390511-105390561	GM12878	blood:	n/a
25	chr14:105390511-105390561	HepG2	liver:	n/a
26	chr14:105390511-105390561	AG04450	lung:	fetal
27	chr14:105390511-105390561	HNPCEpiC	eye:	n/a
28	chr14:105390511-105390561	PFSK-1	brain:	n/a
29	chr14:105390511-105390561	K562	blood:	n/a
30	chr14:105390511-105390561	AG10803	skin:	n/a
31	chr14:105390511-105390561	AoSMC	blood vessel:	n/a
32	chr14:105390511-105390561	SK-N-SH	brain:	n/a
33	chr14:105390511-105390561	T-47D	breast:	n/a
34	chr14:105390511-105390561	MCF-7	breast:	n/a
35	chr14:105390511-105390561	H1-hESC	embryonic stem cell:	embryo
36	chr14:105390511-105390561	HRPEpiC	eye:	n/a
37	chr14:105390511-105390561	HRCEpiC	kidney:	n/a
38	chr14:105390511-105390561	GM12891	blood:	n/a
39	chr14:105390511-105390561	LNCaP	prostate:	n/a
40	chr14:105390511-105390561	NT2-D1	testis:	n/a
41	chr14:105390511-105390561	BE2_C	brain:	n/a
42	chr14:105390511-105390561	HCPEpiC	choroid plexus:	n/a
43	chr14:105390511-105390561	AG09309	skin:	n/a
44	chr14:105390511-105390561	MCF10A-Er-Src	breast:	n/a
45	chr14:105390511-105390561	AG04449	skin:	fetal
46	chr14:105390511-105390561	GM06990	blood:	n/a
47	chr14:105390511-105390561	HAEpiC	amniotic membrane:	n/a
48	chr14:105390511-105390561	HCT-116	colon:	n/a
49	chr14:105390511-105390561	PANC-1	pancreas:	n/a
50	chr14:105390511-105390561	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLD4	TF binding region
PLD4	CpG island
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11844373	1.00[EUR][1000 genomes]
rs11849554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35017875	1.00[EUR][1000 genomes]
rs7143027	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105389000-105390800	Enhancers	Primary B cells from cord blood	blood
2	chr14:105389200-105390800	Enhancers	GM12878-XiMat	blood
3	chr14:105389200-105391200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:105389400-105391200	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:105390000-105391200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:105390200-105390800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:105390200-105391600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:105390400-105390600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr14:105390400-105390800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:105390400-105391000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:105390400-105391200	ZNF genes & repeats	Spleen	Spleen

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