Variant report

Variant	rs4673324
Chromosome Location	chr2:206218464-206218465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10199654	0.89[ASN][1000 genomes]
rs10490290	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490292	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10490293	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490295	0.91[ASN][1000 genomes]
rs10804147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10804148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10932102	0.90[ASN][1000 genomes]
rs10932104	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10932105	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932107	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932109	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1113314	0.89[ASN][1000 genomes]
rs11676344	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676518	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676519	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676529	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11677457	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11686270	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690439	0.88[ASN][1000 genomes]
rs11690480	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690561	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691342	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11691345	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692923	0.90[ASN][1000 genomes]
rs11695465	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207411	0.81[ASN][1000 genomes]
rs1207415	0.81[ASN][1000 genomes]
rs1207426	0.81[ASN][1000 genomes]
rs1207430	0.81[ASN][1000 genomes]
rs1207431	0.81[ASN][1000 genomes]
rs1207432	0.81[ASN][1000 genomes]
rs1207433	0.81[ASN][1000 genomes]
rs1207434	0.87[ASN][1000 genomes]
rs1207435	0.88[ASN][1000 genomes]
rs1207436	0.88[ASN][1000 genomes]
rs1207437	0.88[ASN][1000 genomes]
rs1207438	0.88[ASN][1000 genomes]
rs1207440	0.81[ASN][1000 genomes]
rs1207441	0.81[ASN][1000 genomes]
rs1211319	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12373584	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12373610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464688	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464755	0.90[ASN][1000 genomes]
rs12468755	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12468794	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12468975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470003	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470434	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472655	0.85[EUR][1000 genomes]
rs12472752	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12615597	0.90[ASN][1000 genomes]
rs12622101	0.90[ASN][1000 genomes]
rs12623757	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12989507	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13000324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13002238	0.82[ASN][1000 genomes]
rs13004164	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13004568	0.89[ASN][1000 genomes]
rs13009974	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13011880	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13011981	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13015412	0.85[ASN][1000 genomes]
rs13017922	0.93[ASN][1000 genomes]
rs13021602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022810	0.89[ASN][1000 genomes]
rs13024741	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024952	0.88[ASN][1000 genomes]
rs13025642	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13028215	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033820	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1398053	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1398054	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511873	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511874	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1540365	0.90[ASN][1000 genomes]
rs1540366	0.90[ASN][1000 genomes]
rs1540367	0.89[ASN][1000 genomes]
rs1540368	0.89[ASN][1000 genomes]
rs1540369	0.82[ASN][1000 genomes]
rs1606238	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1606239	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17201041	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849226	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1861508	0.90[ASN][1000 genomes]
rs1861509	0.90[ASN][1000 genomes]
rs1861510	0.80[JPT][hapmap]
rs1861513	0.84[ASN][1000 genomes]
rs1861514	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877338	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877339	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1912845	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921805	0.90[ASN][1000 genomes]
rs1990667	0.81[ASN][1000 genomes]
rs2041877	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080416	0.84[EUR][1000 genomes]
rs2080418	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080419	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160455	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2193077	0.84[ASN][1000 genomes]
rs2251539	0.81[ASN][1000 genomes]
rs2336416	0.90[ASN][1000 genomes]
rs2336417	0.83[ASN][1000 genomes]
rs2336420	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2541150	0.81[ASN][1000 genomes]
rs2541151	0.88[ASN][1000 genomes]
rs2541152	0.88[ASN][1000 genomes]
rs2541153	0.88[ASN][1000 genomes]
rs2541154	0.88[ASN][1000 genomes]
rs2541160	0.84[ASN][1000 genomes]
rs2668142	0.82[ASN][1000 genomes]
rs2668144	0.84[ASN][1000 genomes]
rs2668145	0.84[ASN][1000 genomes]
rs2668146	0.84[ASN][1000 genomes]
rs2668148	0.86[ASN][1000 genomes]
rs2704643	0.81[ASN][1000 genomes]
rs2704644	0.88[ASN][1000 genomes]
rs2878692	0.81[ASN][1000 genomes]
rs34226321	0.89[ASN][1000 genomes]
rs34332011	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34486316	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35337631	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35550118	0.85[ASN][1000 genomes]
rs3843339	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3845806	0.97[ASN][1000 genomes]
rs3856509	0.90[ASN][1000 genomes]
rs3928642	0.97[ASN][1000 genomes]
rs4119079	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4119081	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4505506	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4595957	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673318	0.90[ASN][1000 genomes]
rs4673319	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673320	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673323	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4673325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673326	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673327	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673328	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673329	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673330	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4675508	0.88[ASN][1000 genomes]
rs4675511	0.90[ASN][1000 genomes]
rs4675512	0.86[ASN][1000 genomes]
rs4675513	0.90[ASN][1000 genomes]
rs4675515	0.97[ASN][1000 genomes]
rs4675519	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4675521	0.94[ASN][1000 genomes]
rs55850246	0.90[ASN][1000 genomes]
rs62171496	0.88[ASN][1000 genomes]
rs62171506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66583439	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6740963	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755865	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6756234	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7582340	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594732	0.90[ASN][1000 genomes]
rs849189	0.88[ASN][1000 genomes]
rs849193	0.87[ASN][1000 genomes]
rs849194	0.88[ASN][1000 genomes]
rs849198	0.84[ASN][1000 genomes]
rs849200	0.84[ASN][1000 genomes]
rs849207	0.84[ASN][1000 genomes]
rs849208	0.83[ASN][1000 genomes]
rs849216	0.90[ASN][1000 genomes]
rs849218	0.88[ASN][1000 genomes]
rs849219	0.88[ASN][1000 genomes]
rs849220	0.87[ASN][1000 genomes]
rs849221	0.88[ASN][1000 genomes]
rs849222	0.88[ASN][1000 genomes]
rs849223	0.88[ASN][1000 genomes]
rs849224	0.83[ASN][1000 genomes]
rs849250	0.89[ASN][1000 genomes]
rs907462	0.85[ASN][1000 genomes]
rs964896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs964897	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979187	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4673324	ALS2CR12	cis	parietal	SCAN
rs4673324	CRYGC	cis	cerebellum	SCAN
rs4673324	PARD3B	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206213000-206222600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:206213000-206223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:206213200-206222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:206216200-206218600	Enhancers	NHDF-Ad	bronchial
6	chr2:206216400-206218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:206217600-206218600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:206218000-206222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:206218000-206223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:206218000-206223000	Weak transcription	NH-A	brain
11	chr2:206218000-206223400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:206218200-206221800	Weak transcription	NHEK	skin
13	chr2:206218200-206222400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:206218200-206222600	Weak transcription	HMEC	breast
15	chr2:206218200-206222800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:206218200-206223000	Weak transcription	Osteobl	bone
17	chr2:206218200-206223200	Weak transcription	HSMM	muscle
18	chr2:206218200-206223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:206218200-206225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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