Variant report

Variant	rs1880119
Chromosome Location	chr7:6615440-6615441
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:6615150-6615605	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:6615362-6616459	HepG2	liver:	n/a	n/a
3	NR2F2	chr7:6614982-6615677	HepG2	liver:	n/a	n/a
4	MXI1	chr7:6615266-6615545	HepG2	liver:	n/a	n/a
5	MYC	chr7:6615348-6615544	HepG2	liver:	n/a	n/a
6	HNF4A	chr7:6615204-6615465	HepG2	liver:	n/a	n/a
7	RXRA	chr7:6615214-6615569	HepG2	liver:	n/a	n/a
8	EP300	chr7:6614931-6615653	HepG2	liver:	n/a	chr7:6615119-6615128
9	HDAC2	chr7:6615182-6615567	HepG2	liver:	n/a	chr7:6615260-6615274
10	POLR2A	chr7:6614876-6616489	HepG2	liver:	n/a	n/a
11	HNF4A	chr7:6615186-6615518	HepG2	liver:	n/a	n/a
12	HEY1	chr7:6615263-6616491	HepG2	liver:	n/a	n/a
13	SP1	chr7:6615103-6615631	HepG2	liver:	n/a	n/a
14	HNF4G	chr7:6615269-6615531	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:6614858-6616471	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:6615167-6615853	HepG2	liver:	n/a	n/a
17	MAX	chr7:6615132-6615761	HepG2	liver:	n/a	n/a
18	FOXA1	chr7:6615172-6615813	HepG2	liver:	n/a	n/a
19	TBP	chr7:6614907-6615544	HepG2	liver:	n/a	n/a
20	EP300	chr7:6615051-6615490	HepG2	liver:	n/a	chr7:6615119-6615128
21	BHLHE40	chr7:6615127-6615537	HepG2	liver:	n/a	n/a
22	MAX	chr7:6615351-6615550	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:6615305-6615565	HepG2	liver:	n/a	n/a
24	MYBL2	chr7:6615119-6615817	HepG2	liver:	n/a	n/a
25	TEAD4	chr7:6614846-6615862	HepG2	liver:	n/a	n/a
26	MYBL2	chr7:6614917-6615677	HepG2	liver:	n/a	n/a
27	FOXA2	chr7:6615206-6615527	HepG2	liver:	n/a	n/a
28	FOXA1	chr7:6615099-6615640	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:6614908-6619352	HepG2	liver:	n/a	n/a
30	FOXA1	chr7:6614794-6615751	HepG2	liver:	n/a	n/a
31	FOSL2	chr7:6615228-6615588	HepG2	liver:	n/a	n/a
32	ARID3A	chr7:6615037-6615691	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
2	chr7:6614289..6616112-chr7:6628784..6631190,2	K562	blood:
3	chr7:5921888..5923776-chr7:6615172..6617060,2	K562	blood:
4	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
5	chr7:6612729..6615949-chr7:6673669..6677097,3	K562	blood:
6	chr7:6536495..6538201-chr7:6614810..6616911,2	K562	blood:

No data

Variant related genes	Relation type
ZDHHC4	TF binding region
ENSG00000269781	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10235760	0.83[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10239018	0.84[EUR][1000 genomes]
rs10254630	0.92[JPT][hapmap]
rs10255168	0.85[EUR][1000 genomes]
rs10276346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10279458	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282220	0.88[EUR][1000 genomes]
rs10951987	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10951988	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11559146	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11559147	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11762346	0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs11762851	0.84[EUR][1000 genomes]
rs11763814	0.87[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs11770467	0.88[EUR][1000 genomes]
rs12532758	0.95[EUR][1000 genomes]
rs12538002	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538197	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539700	0.92[ASN][1000 genomes]
rs12669808	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12702529	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13224458	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13226346	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13229391	0.88[EUR][1000 genomes]
rs13229523	0.88[EUR][1000 genomes]
rs13240710	0.84[EUR][1000 genomes]
rs2346263	0.95[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs3088114	0.81[JPT][hapmap]
rs34060186	0.84[EUR][1000 genomes]
rs4075107	0.96[CEU][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4272276	0.84[CEU][hapmap];0.92[JPT][hapmap]
rs56717970	0.90[EUR][1000 genomes]
rs59895610	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6943805	0.84[EUR][1000 genomes]
rs6950897	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6952785	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963775	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345000	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7357134	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7790874	0.92[CEU][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs7790928	0.91[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs7792808	0.92[CEU][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs7793367	0.80[CEU][hapmap];0.92[JPT][hapmap]
rs7793685	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7800917	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7801415	0.88[EUR][1000 genomes]
rs952042	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1880119	ZDHHC4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6578600-6616200	Weak transcription	Right Atrium	heart
2	chr7:6610400-6615800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:6611400-6615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:6611400-6616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:6611600-6615600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:6611600-6615800	Weak transcription	Hela-S3	cervix
7	chr7:6611600-6616000	Weak transcription	GM12878-XiMat	blood
8	chr7:6612200-6616200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:6614400-6616400	Weak transcription	HSMMtube	muscle
10	chr7:6614800-6615800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:6615200-6615800	Weak transcription	A549	lung
12	chr7:6615200-6616200	Weak transcription	Ovary	ovary
13	chr7:6615400-6616400	Flanking Active TSS	HepG2	liver

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