Variant report

Variant	rs17101957
Chromosome Location	chr14:104410305-104410306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:104410119-104410343	K562	blood:	n/a	n/a
2	MAFK	chr14:104410037-104410687	K562	blood:	n/a	n/a
3	CREB1	chr14:104409903-104410532	K562	blood:	n/a	n/a
4	RCOR1	chr14:104410011-104410546	K562	blood:	n/a	n/a
5	JUN	chr14:104409877-104410542	K562	blood:	n/a	chr14:104410178-104410189
6	MAX	chr14:104410058-104410375	K562	blood:	n/a	n/a
7	MAZ	chr14:104409987-104410346	K562	blood:	n/a	n/a
8	TEAD4	chr14:104409974-104410473	K562	blood:	n/a	n/a
9	EP300	chr14:104409964-104410654	K562	blood:	n/a	n/a
10	CREB1	chr14:104409903-104410407	K562	blood:	n/a	n/a
11	NR2F2	chr14:104409994-104410314	K562	blood:	n/a	n/a
12	NR2F2	chr14:104409962-104410383	K562	blood:	n/a	n/a
13	CEBPB	chr14:104410030-104410490	K562	blood:	n/a	n/a
14	TEAD4	chr14:104410019-104410343	K562	blood:	n/a	n/a
15	TAL1	chr14:104410048-104410423	K562	blood:	n/a	n/a
16	EP300	chr14:104410036-104410393	K562	blood:	n/a	n/a
17	ATF1	chr14:104409999-104410408	K562	blood:	n/a	n/a
18	ATF3	chr14:104410083-104410329	K562	blood:	n/a	n/a
19	TBL1XR1	chr14:104410027-104410488	K562	blood:	n/a	n/a
20	CCNT2	chr14:104410065-104410335	K562	blood:	n/a	n/a
21	JUND	chr14:104409993-104410470	K562	blood:	n/a	chr14:104410178-104410189
22	MYC	chr14:104410066-104410397	K562	blood:	n/a	n/a
23	BHLHE40	chr14:104410093-104410571	K562	blood:	n/a	n/a
24	POLR2A	chr14:104410113-104410371	K562	blood:	n/a	n/a
25	CEBPB	chr14:104409979-104410421	K562	blood:	n/a	n/a
26	MAFF	chr14:104410013-104410468	K562	blood:	n/a	n/a
27	ZNF384	chr14:104410108-104410443	K562	blood:	n/a	n/a
28	ZMIZ1	chr14:104410027-104410350	K562	blood:	n/a	n/a
29	MYC	chr14:104410008-104410357	K562	blood:	n/a	n/a
30	TBP	chr14:104410162-104410447	K562	blood:	n/a	n/a
31	GATA2	chr14:104409992-104410451	K562	blood:	n/a	chr14:104410306-104410316

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104403769..104405537-chr14:104408994..104411713,3	MCF-7	breast:
2	chr14:104408709..104411499-chr14:104426104..104427639,2	MCF-7	breast:
3	chr14:104403831..104408776-chr14:104408810..104412826,6	K562	blood:
4	chr14:104393603..104397064-chr14:104407702..104410726,3	K562	blood:

No data

Variant related genes	Relation type
RD3L	TF binding region
ENSG00000156414	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000227729	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11623061	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11623353	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs11626034	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12589669	1.00[CHB][hapmap];0.94[CHD][hapmap];0.80[JPT][hapmap]
rs12883364	0.95[ASN][1000 genomes]
rs12885224	0.93[ASN][1000 genomes]
rs33984773	0.84[ASN][1000 genomes]
rs35146098	0.87[ASN][1000 genomes]
rs35977669	0.87[ASN][1000 genomes]
rs5018062	0.80[JPT][hapmap]
rs61997569	0.84[ASN][1000 genomes]
rs61997596	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv902324	chr14:104399640-104464809	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17101957	JAG2	cis	parietal	SCAN
rs17101957	KLC1	cis	parietal	SCAN
rs17101957	MARK3	cis	cerebellum	SCAN
rs17101957	TDRD9	cis	parietal	SCAN
rs17101957	CDCA4	cis	parietal	SCAN
rs17101957	CYP46A1	cis	cerebellum	SCAN
rs17101957	ZFYVE21	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104409000-104410600	Weak transcription	Left Ventricle	heart
2	chr14:104409000-104411600	Enhancers	Fetal Heart	heart
3	chr14:104409000-104414000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:104410200-104410800	Flanking Active TSS	K562	blood

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