Variant report

Variant	rs1207421
Chromosome Location	chr2:206150594-206150595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10804147	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10932104	0.80[ASN][1000 genomes]
rs11691345	0.81[ASN][1000 genomes]
rs1207411	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1207415	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1207420	0.92[ASN][1000 genomes]
rs1207424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1207426	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207428	0.98[ASN][1000 genomes]
rs1207429	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1207430	0.98[ASN][1000 genomes]
rs1207431	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207432	0.98[ASN][1000 genomes]
rs1207433	0.98[ASN][1000 genomes]
rs1207434	0.89[ASN][1000 genomes]
rs1207435	0.91[ASN][1000 genomes]
rs1207436	0.91[ASN][1000 genomes]
rs1207437	0.91[ASN][1000 genomes]
rs1207438	0.91[ASN][1000 genomes]
rs1207440	0.89[ASN][1000 genomes]
rs1207441	0.89[ASN][1000 genomes]
rs1211319	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1212609	0.90[ASN][1000 genomes]
rs12468755	0.81[ASN][1000 genomes]
rs12468794	0.81[ASN][1000 genomes]
rs12470434	0.81[ASN][1000 genomes]
rs13002238	0.85[ASN][1000 genomes]
rs13004164	0.81[ASN][1000 genomes]
rs13015412	0.83[ASN][1000 genomes]
rs13024952	0.91[ASN][1000 genomes]
rs1540367	0.80[ASN][1000 genomes]
rs1540368	0.80[ASN][1000 genomes]
rs1540369	0.86[ASN][1000 genomes]
rs1861510	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1861511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1861513	0.84[ASN][1000 genomes]
rs1912845	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs1990667	0.81[ASN][1000 genomes]
rs2080418	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2160453	0.88[ASN][1000 genomes]
rs2160455	0.81[ASN][1000 genomes]
rs2193077	0.82[ASN][1000 genomes]
rs2251539	0.98[ASN][1000 genomes]
rs2541148	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2541149	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2541150	0.84[ASN][1000 genomes]
rs2541151	0.91[ASN][1000 genomes]
rs2541152	0.91[ASN][1000 genomes]
rs2541153	0.91[ASN][1000 genomes]
rs2541154	0.91[ASN][1000 genomes]
rs2541160	0.84[ASN][1000 genomes]
rs2668144	0.84[ASN][1000 genomes]
rs2668145	0.84[ASN][1000 genomes]
rs2668146	0.84[ASN][1000 genomes]
rs2668148	0.85[ASN][1000 genomes]
rs2704638	0.90[ASN][1000 genomes]
rs2704643	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2704644	0.91[ASN][1000 genomes]
rs2878692	0.98[ASN][1000 genomes]
rs34226321	0.80[ASN][1000 genomes]
rs35550118	0.83[ASN][1000 genomes]
rs3843339	0.81[ASN][1000 genomes]
rs3845806	0.81[ASN][1000 genomes]
rs3928642	0.81[ASN][1000 genomes]
rs4505506	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs4673317	0.89[ASN][1000 genomes]
rs4673319	0.81[ASN][1000 genomes]
rs4675512	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4675515	0.81[ASN][1000 genomes]
rs62171496	0.91[ASN][1000 genomes]
rs6761373	0.81[ASN][1000 genomes]
rs849189	0.91[ASN][1000 genomes]
rs849193	0.89[ASN][1000 genomes]
rs849194	0.91[ASN][1000 genomes]
rs849198	0.84[ASN][1000 genomes]
rs849200	0.84[ASN][1000 genomes]
rs849207	0.84[ASN][1000 genomes]
rs849208	0.82[ASN][1000 genomes]
rs849216	0.89[ASN][1000 genomes]
rs849218	0.91[ASN][1000 genomes]
rs849219	0.91[ASN][1000 genomes]
rs849220	0.90[ASN][1000 genomes]
rs849221	0.91[ASN][1000 genomes]
rs849222	0.91[ASN][1000 genomes]
rs849223	0.91[ASN][1000 genomes]
rs849224	0.86[ASN][1000 genomes]
rs849250	0.89[ASN][1000 genomes]
rs907462	0.83[ASN][1000 genomes]

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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3340146	chr2:206149496-206150853	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Knee osteoarthritis	18471798	GWAS catalog

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
3	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:206149000-206156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:206149200-206150800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:206149400-206154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:206149400-206154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:206149400-206158200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:206149400-206160000	Weak transcription	Psoas Muscle	Psoas
10	chr2:206149600-206154600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:206149600-206158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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