Variant report

Variant	rs7504096
Chromosome Location	chr17:16877083-16877084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr17:16877063-16877712	GM12878	blood:	n/a	n/a
2	NFIC	chr17:16876805-16877693	GM12878	blood:	n/a	chr17:16877559-16877587
3	EBF1	chr17:16877048-16877378	GM12878	blood:	n/a	n/a
4	TAF1	chr17:16877057-16877425	GM12878	blood:	n/a	n/a
5	NFATC1	chr17:16876971-16877450	GM12878	blood:	n/a	n/a
6	EP300	chr17:16877004-16877737	GM12878	blood:	n/a	n/a
7	STAT3	chr17:16877043-16877545	GM12878	blood:	n/a	n/a
8	POU2F2	chr17:16877022-16877436	GM12878	blood:	n/a	n/a
9	TBP	chr17:16877020-16877626	GM12878	blood:	n/a	n/a
10	BHLHE40	chr17:16877045-16877692	GM12878	blood:	n/a	n/a
11	ATF2	chr17:16876944-16877454	GM12878	blood:	n/a	n/a
12	CREB1	chr17:16876972-16877574	GM12878	blood:	n/a	n/a
13	BATF	chr17:16876977-16877403	GM12878	blood:	n/a	n/a
14	MAZ	chr17:16877081-16877747	GM12878	blood:	n/a	n/a
15	EP300	chr17:16877052-16877493	GM12878	blood:	n/a	n/a
16	PAX5	chr17:16877042-16877420	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:16876287-16877758	GM12878	blood:	n/a	n/a
18	EBF1	chr17:16877083-16877411	GM12878	blood:	n/a	n/a
19	RUNX3	chr17:16876942-16877817	GM12878	blood:	n/a	n/a
20	ATF2	chr17:16876862-16877750	GM12878	blood:	n/a	n/a
21	FOXM1	chr17:16876829-16877568	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:16876971-16877432	GM12892	blood:	n/a	n/a
23	MEF2A	chr17:16877045-16877552	GM12878	blood:	n/a	n/a
24	YY1	chr17:16877024-16877270	K562	blood:	n/a	n/a
25	NFIC	chr17:16876943-16877586	GM12878	blood:	n/a	n/a
26	EP300	chr17:16877012-16877435	GM12878	blood:	n/a	n/a
27	CEBPB	chr17:16876858-16877585	GM12878	blood:	n/a	n/a
28	SP1	chr17:16876997-16877445	GM12878	blood:	n/a	n/a
29	RELA	chr17:16877003-16877722	GM19099	blood:	n/a	n/a
30	POLR2A	chr17:16876610-16877375	GM12878	blood:	n/a	n/a
31	SP1	chr17:16877032-16877411	GM12878	blood:	n/a	n/a
32	CUX1	chr17:16877026-16877529	GM12878	blood:	n/a	n/a
33	FOXM1	chr17:16876900-16877499	GM12878	blood:	n/a	n/a
34	POU2F2	chr17:16876883-16877491	GM12878	blood:	n/a	n/a
35	BCL3	chr17:16876979-16877445	GM12878	blood:	n/a	n/a
36	IRF4	chr17:16876951-16877410	GM12878	blood:	n/a	n/a
37	TCF3	chr17:16877080-16877378	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:16876930-16877394	GM12892	blood:	n/a	n/a
39	PML	chr17:16876986-16877316	GM12878	blood:	n/a	n/a
40	BCLAF1	chr17:16876897-16877757	GM12878	blood:	n/a	n/a
41	TBL1XR1	chr17:16877002-16877711	GM12878	blood:	n/a	n/a
42	BCL11A	chr17:16877009-16877380	GM12878	blood:	n/a	n/a
43	E2F4	chr17:16877038-16877366	GM12878	blood:	n/a	n/a
44	YY1	chr17:16877055-16877410	GM12878	blood:	n/a	n/a
45	MTA3	chr17:16876835-16877904	GM12878	blood:	n/a	n/a
46	MAX	chr17:16876974-16877721	GM12878	blood:	n/a	n/a
47	MTA3	chr17:16876927-16877790	GM12878	blood:	n/a	n/a
48	RCOR1	chr17:16877032-16877443	GM12878	blood:	n/a	n/a
49	PML	chr17:16876900-16877634	GM12878	blood:	n/a	n/a
50	STAT5A	chr17:16876859-16877500	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
TNFRSF13B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1004439	1.00[YRI][hapmap]
rs6502545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502547	0.89[AFR][1000 genomes]
rs6502549	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8072293	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7504096	LOC96597	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16867400-16883800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16873000-16880800	Enhancers	Fetal Thymus	thymus
3	chr17:16874200-16880000	Enhancers	Dnd41	blood
4	chr17:16875200-16885800	Enhancers	Primary B cells from cord blood	blood
5	chr17:16875400-16877400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:16875400-16878000	Weak transcription	Spleen	Spleen
7	chr17:16875400-16878400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:16875600-16877400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:16875600-16877600	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:16875600-16878600	Weak transcription	Thymus	Thymus
11	chr17:16875800-16887200	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:16876800-16877400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:16877000-16877400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr17:16877000-16877400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:16877000-16877400	Enhancers	Duodenum Mucosa	Duodenum

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