Variant report

Variant	rs1398053
Chromosome Location	chr2:206226135-206226136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206225154..206226804-chr2:206253641..206255216,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10199654	0.87[ASN][1000 genomes]
rs10490290	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490292	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490293	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490295	0.89[ASN][1000 genomes]
rs10804147	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10932102	0.88[ASN][1000 genomes]
rs10932104	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10932105	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932106	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932107	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1113314	0.87[ASN][1000 genomes]
rs11676344	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676518	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676519	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676529	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677457	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686270	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690439	0.86[ASN][1000 genomes]
rs11690480	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690561	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11691342	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691345	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692923	0.88[ASN][1000 genomes]
rs11695465	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1207434	0.85[ASN][1000 genomes]
rs1207435	0.86[ASN][1000 genomes]
rs1207436	0.86[ASN][1000 genomes]
rs1207437	0.86[ASN][1000 genomes]
rs1207438	0.86[ASN][1000 genomes]
rs12373584	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12373610	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464688	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464755	0.88[ASN][1000 genomes]
rs12468755	0.94[ASN][1000 genomes]
rs12468794	0.94[ASN][1000 genomes]
rs12468975	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12470003	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470079	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470434	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12472655	0.83[EUR][1000 genomes]
rs12472752	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472815	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476682	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12615597	0.88[ASN][1000 genomes]
rs12622101	0.88[ASN][1000 genomes]
rs12623757	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989507	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12995657	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13000324	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004164	0.94[ASN][1000 genomes]
rs13004568	0.87[ASN][1000 genomes]
rs13009974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011880	0.96[ASN][1000 genomes]
rs13011981	0.96[ASN][1000 genomes]
rs13015412	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13017922	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13021602	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022810	0.86[ASN][1000 genomes]
rs13024741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13024952	0.86[ASN][1000 genomes]
rs13025642	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033820	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1398054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511873	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1511874	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540365	0.88[ASN][1000 genomes]
rs1540366	0.88[ASN][1000 genomes]
rs1540367	0.87[ASN][1000 genomes]
rs1540368	0.87[ASN][1000 genomes]
rs1540369	0.80[ASN][1000 genomes]
rs1606238	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1606239	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17201041	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1849226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861508	0.88[ASN][1000 genomes]
rs1861509	0.88[ASN][1000 genomes]
rs1861513	0.84[ASN][1000 genomes]
rs1861514	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1877338	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912845	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1921805	0.88[ASN][1000 genomes]
rs1990667	0.81[ASN][1000 genomes]
rs2041877	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080416	0.81[EUR][1000 genomes]
rs2080418	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080419	0.96[ASN][1000 genomes]
rs2160455	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2193077	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2336416	0.88[ASN][1000 genomes]
rs2336417	0.81[ASN][1000 genomes]
rs2336420	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541151	0.86[ASN][1000 genomes]
rs2541152	0.86[ASN][1000 genomes]
rs2541153	0.86[ASN][1000 genomes]
rs2541154	0.86[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	0.85[ASN][1000 genomes]
rs2704644	0.86[ASN][1000 genomes]
rs34226321	0.87[ASN][1000 genomes]
rs34332011	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34486316	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35337631	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550118	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3843339	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3845806	0.94[ASN][1000 genomes]
rs3856509	0.88[ASN][1000 genomes]
rs3928642	0.94[ASN][1000 genomes]
rs4119079	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4119081	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4505506	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4595957	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4673318	0.88[ASN][1000 genomes]
rs4673319	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673320	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673323	0.98[ASN][1000 genomes]
rs4673324	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673325	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673326	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673327	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673328	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673329	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4673330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4675508	0.86[ASN][1000 genomes]
rs4675511	0.88[ASN][1000 genomes]
rs4675512	0.84[ASN][1000 genomes]
rs4675513	0.88[ASN][1000 genomes]
rs4675515	0.94[ASN][1000 genomes]
rs4675519	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4675521	0.92[ASN][1000 genomes]
rs55850246	0.88[ASN][1000 genomes]
rs62171496	0.86[ASN][1000 genomes]
rs62171506	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66583439	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740963	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755865	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6756234	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6761373	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582340	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594732	0.88[ASN][1000 genomes]
rs849189	0.86[ASN][1000 genomes]
rs849193	0.85[ASN][1000 genomes]
rs849194	0.86[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	0.88[ASN][1000 genomes]
rs849218	0.86[ASN][1000 genomes]
rs849219	0.86[ASN][1000 genomes]
rs849220	0.85[ASN][1000 genomes]
rs849221	0.86[ASN][1000 genomes]
rs849222	0.86[ASN][1000 genomes]
rs849223	0.86[ASN][1000 genomes]
rs849224	0.81[ASN][1000 genomes]
rs849250	0.87[ASN][1000 genomes]
rs907462	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs964896	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964897	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979187	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206223200-206228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:206223800-206228000	Weak transcription	HSMM	muscle
4	chr2:206223800-206229000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:206224000-206229000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:206224000-206231200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:206224200-206226400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:206224200-206228600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:206224200-206228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:206224200-206230200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:206224400-206226200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:206224400-206227800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:206224400-206228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:206224600-206227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:206225400-206227000	Enhancers	HMEC	breast
16	chr2:206225400-206227200	Enhancers	NHEK	skin
17	chr2:206225600-206226200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:206225800-206226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:206225800-206226600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:206226000-206226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:206226000-206226400	Weak transcription	NHDF-Ad	bronchial

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