Variant report

Variant	rs4128705
Chromosome Location	chr4:92283771-92283772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10516892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11938361	0.90[ASN][1000 genomes]
rs11938470	0.90[ASN][1000 genomes]
rs12186312	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap]
rs12498254	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507382	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12507399	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12507411	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12511436	1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17018388	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17214010	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1830354	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2141397	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs2870310	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs34594961	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs4096930	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4096931	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4128703	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4128704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4411947	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6829492	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs72880824	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72880827	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72880830	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3384271	chr4:92073391-92464275	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv879566	chr4:92215966-92322333	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv879567	chr4:92215966-92413671	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv522208	chr4:92241587-92283771	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1830673	chr4:92241587-92379081	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv879568	chr4:92244300-92429961	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv529020	chr4:92253926-92293482	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv594849	chr4:92271993-92285150	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv966558	chr4:92273882-92285480	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv515874	chr4:92280933-92283771	Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv818252	chr4:92280933-92283771	Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv594850	chr4:92280933-92284120	Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv594851	chr4:92280933-92284935	Enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv594852	chr4:92280933-92285077	Enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv594853	chr4:92280933-92285150	Enhancers	n/a	n/a	inside rSNPs	diseases
17	nsv594854	chr4:92280933-92286445	Enhancers	n/a	n/a	inside rSNPs	diseases
18	nsv594855	chr4:92280933-92286553	Enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv461584	chr4:92280933-92344220	ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv594856	chr4:92280933-92344220	Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv879569	chr4:92281419-92352498	ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv879570	chr4:92281419-92368346	ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv879571	chr4:92281419-92483806	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv879572	chr4:92281419-92510827	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv879573	chr4:92281419-92520419	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Amyotrophic lateral sclerosis (sporadic)	24529757	GWAS catalog

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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