Variant report

Variant	rs1192426
Chromosome Location	chr6:62690680-62690681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10944900	0.86[ASN][1000 genomes]
rs1192423	1.00[ASN][1000 genomes]
rs1192425	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192428	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192429	0.99[ASN][1000 genomes]
rs1192430	0.99[ASN][1000 genomes]
rs1192433	0.95[ASN][1000 genomes]
rs1192434	0.94[ASN][1000 genomes]
rs1192435	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1192436	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1192437	0.88[EUR][1000 genomes]
rs1192438	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1192440	0.94[ASN][1000 genomes]
rs1192443	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1192445	0.91[ASN][1000 genomes]
rs1192447	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192451	0.85[ASN][1000 genomes]
rs1192452	0.85[ASN][1000 genomes]
rs1192453	0.87[ASN][1000 genomes]
rs1192454	0.87[ASN][1000 genomes]
rs1192455	0.87[ASN][1000 genomes]
rs1192456	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1192457	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1192458	0.87[ASN][1000 genomes]
rs1192459	0.87[ASN][1000 genomes]
rs1201502	0.85[ASN][1000 genomes]
rs1209201	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16880495	0.86[ASN][1000 genomes]
rs2653937	0.87[ASN][1000 genomes]
rs2675988	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2675989	0.86[ASN][1000 genomes]
rs2795988	0.86[ASN][1000 genomes]
rs4710600	0.87[ASN][1000 genomes]
rs6915333	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6932543	0.86[ASN][1000 genomes]
rs9351556	0.87[ASN][1000 genomes]
rs9363585	0.87[ASN][1000 genomes]
rs9445697	0.87[ASN][1000 genomes]
rs9453740	0.86[ASN][1000 genomes]
rs959789	0.92[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	nsv1033794	chr6:61886428-62877254	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1027650	chr6:61886428-62877393	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv462963	chr6:61963172-62899514	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv603266	chr6:61963172-62899514	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv603268	chr6:61963173-62899514	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv932029	chr6:61967253-62900503	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv916376	chr6:61967253-62927185	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv529782	chr6:61971892-62877253	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv948423	chr6:61972225-62725552	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1022364	chr6:62019939-62877193	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv538261	chr6:62019939-62877193	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	esv17049	chr6:62178788-62919415	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv603277	chr6:62183901-62899514	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv1032202	chr6:62236498-62907004	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv538262	chr6:62236498-62907004	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv1025290	chr6:62236498-62913561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv538263	chr6:62236498-62913561	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv948986	chr6:62504369-62899427	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1029562	chr6:62515908-62854722	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv533083	chr6:62531786-62877253	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv603316	chr6:62600980-62927514	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv462966	chr6:62660379-62690680	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
23	nsv603317	chr6:62660379-62690680	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv1034161	chr6:62682632-62809871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv2763556	chr6:62682644-62809883	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1192426	KHDRBS2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62677400-62704600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:62682600-62690800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:62686800-62718800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:62690400-62691000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:62690600-62690800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:62690600-62691000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:62690600-62691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:62690600-62691200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:62690600-62691600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:62690600-62691600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:62690600-62691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:62690600-62692000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:62690600-62692200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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