Variant report

Variant	rs6549031
Chromosome Location	chr3:85550085-85550086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
2	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
3	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
4	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
5	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1014796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433499	0.91[ASN][1000 genomes]
rs10433525	0.91[ASN][1000 genomes]
rs10865609	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865611	0.91[ASN][1000 genomes]
rs11127897	0.91[ASN][1000 genomes]
rs11127898	0.91[ASN][1000 genomes]
rs11714549	0.82[EUR][1000 genomes]
rs12054328	0.91[ASN][1000 genomes]
rs12487446	0.82[EUR][1000 genomes]
rs12491722	0.89[ASN][1000 genomes]
rs12494446	0.91[ASN][1000 genomes]
rs12629607	0.91[ASN][1000 genomes]
rs12631046	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12631345	0.81[EUR][1000 genomes]
rs12638798	0.91[ASN][1000 genomes]
rs12639564	0.91[ASN][1000 genomes]
rs1368744	0.82[EUR][1000 genomes]
rs1375556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375566	0.91[ASN][1000 genomes]
rs1433710	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1433713	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1449386	0.91[ASN][1000 genomes]
rs1449401	0.91[ASN][1000 genomes]
rs1449402	0.91[ASN][1000 genomes]
rs1449403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465716	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1551042	0.91[ASN][1000 genomes]
rs1551044	0.91[ASN][1000 genomes]
rs1594795	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17023032	0.91[ASN][1000 genomes]
rs17455991	0.91[ASN][1000 genomes]
rs1868533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900916	0.91[ASN][1000 genomes]
rs1900917	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1992967	0.91[ASN][1000 genomes]
rs2044723	0.91[ASN][1000 genomes]
rs2044725	0.91[ASN][1000 genomes]
rs2053105	0.81[EUR][1000 genomes]
rs2077839	0.85[ASN][1000 genomes]
rs2326315	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326319	0.91[ASN][1000 genomes]
rs2326381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637303	0.91[ASN][1000 genomes]
rs4856272	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4856278	0.94[ASN][1000 genomes]
rs4856597	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4856598	0.91[ASN][1000 genomes]
rs55753638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60541362	0.91[ASN][1000 genomes]
rs62250501	0.91[ASN][1000 genomes]
rs62250537	0.91[ASN][1000 genomes]
rs62250710	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62252517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549027	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6549030	0.91[ASN][1000 genomes]
rs6772750	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6778223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782190	0.91[ASN][1000 genomes]
rs6807461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807666	0.91[ASN][1000 genomes]
rs726610	0.91[ASN][1000 genomes]
rs734298	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7614552	0.91[ASN][1000 genomes]
rs7617323	0.91[ASN][1000 genomes]
rs7618124	0.86[ASN][1000 genomes]
rs7623369	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7623474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623947	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651113	0.82[EUR][1000 genomes]
rs9309978	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9824386	0.82[EUR][1000 genomes]
rs9824840	0.80[EUR][1000 genomes]
rs9831848	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9843953	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846153	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9854888	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1002238	chr3:85357855-85719373	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536619	chr3:85357855-85719373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590904	chr3:85438564-85551403	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv590905	chr3:85438564-85797093	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv998829	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv536622	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv526621	chr3:85470642-85667683	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1013601	chr3:85489536-85570465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv536624	chr3:85489536-85570465	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1009927	chr3:85497666-85669155	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1010541	chr3:85505839-85870597	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv536625	chr3:85505839-85870597	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv2762338	chr3:85520915-85577233	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv1009804	chr3:85521984-85581386	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv536626	chr3:85527837-85578368	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
18	nsv1002139	chr3:85534559-85630146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1006433	chr3:85535783-85631667	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv590906	chr3:85539816-85626054	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1008269	chr3:85544536-85617198	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv536627	chr3:85544536-85617198	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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