Variant report

Variant	rs2631002
Chromosome Location	chr16:34386331-34386332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:34386035-34386472	ECC-1	luminal epithelium:	n/a	chr16:34386227-34386247 chr16:34386255-34386265 chr16:34386239-34386252 chr16:34386228-34386246 chr16:34386233-34386247 chr16:34386227-34386247 chr16:34386232-34386241
2	REST	chr16:34386063-34386391	SK-N-SH	brain:	n/a	chr16:34386227-34386247 chr16:34386255-34386265 chr16:34386239-34386252 chr16:34386228-34386246 chr16:34386233-34386247 chr16:34386227-34386247 chr16:34386232-34386241
3	REST	chr16:34385994-34386470	ECC-1	luminal epithelium:	n/a	chr16:34386227-34386247 chr16:34386255-34386265 chr16:34386239-34386252 chr16:34386228-34386246 chr16:34386233-34386247 chr16:34386227-34386247 chr16:34386232-34386241

Variant related genes	Relation type
ENSG00000261510	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10871269	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1207744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12716730	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12918819	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330248	1.00[AMR][1000 genomes]
rs13337638	1.00[YRI][hapmap]
rs13337844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339184	1.00[AMR][1000 genomes]
rs1386081	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2263415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450384	1.00[AMR][1000 genomes]
rs2623781	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2623784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2623785	1.00[AMR][1000 genomes]
rs2623787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630989	1.00[AMR][1000 genomes]
rs2630991	1.00[AMR][1000 genomes]
rs2630992	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2631001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs281597	1.00[YRI][hapmap]
rs281640	1.00[AMR][1000 genomes]
rs28421631	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28608925	1.00[AMR][1000 genomes]
rs28651320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28657879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685213	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28739483	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4616291	1.00[AMR][1000 genomes]
rs4635354	1.00[AMR][1000 genomes]
rs57537885	1.00[AMR][1000 genomes]
rs61732069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6420379	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563861	1.00[YRI][hapmap]
rs6563863	1.00[AMR][1000 genomes]
rs6563864	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563867	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193135	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7404633	1.00[AMR][1000 genomes]
rs7498126	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7500004	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7500312	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922743	1.00[YRI][hapmap]
rs9922854	1.00[AMR][1000 genomes]
rs9923996	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9924139	1.00[AMR][1000 genomes]
rs9925650	1.00[AMR][1000 genomes]
rs9929974	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9935448	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937313	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939084	1.00[AMR][1000 genomes]
rs9940281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32538	chr16:33935506-34459464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv431453	chr16:33940200-34760967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	nsv542904	chr16:33942289-34427860	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv3336957	chr16:33946491-34387916	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv906655	chr16:34176875-34597156	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1066136	chr16:34197339-34434323	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1064842	chr16:34197339-34472275	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1063819	chr16:34197339-34492332	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1056658	chr16:34197339-34682514	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv917674	chr16:34201887-34682588	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv1067686	chr16:34202088-35147508	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
12	nsv532260	chr16:34202088-35147508	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
13	nsv457484	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv572376	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv521817	chr16:34221454-35168832	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
16	nsv521994	chr16:34221454-35168832	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
17	nsv906656	chr16:34243979-34535583	ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
18	nsv516385	chr16:34259805-34805859	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
19	esv2751557	chr16:34263599-34757071	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv833211	chr16:34266209-34389691	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv906657	chr16:34284743-34517789	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv431454	chr16:34321463-34790434	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
23	nsv428326	chr16:34357763-34769642	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
24	nsv431455	chr16:34359599-34796499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
25	esv2758422	chr16:34362213-34769642	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
26	nsv962209	chr16:34365622-34389045	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv510685	chr16:34373795-34438368	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv143	chr16:34378952-34732704	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34374000-34387000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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