Variant report

Variant	rs3105553
Chromosome Location	chr1:225261992-225261993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10915779	0.89[ASN][1000 genomes]
rs10915782	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10915783	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10915784	0.95[ASN][1000 genomes]
rs10915787	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11588063	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12067806	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12075556	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12080027	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12562045	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12565737	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12565929	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1395116	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1482279	0.87[AMR][1000 genomes]
rs1506069	0.85[ASN][1000 genomes]
rs1506071	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1506073	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1506074	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1600531	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1832540	0.88[ASN][1000 genomes]
rs1842331	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1847908	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1847909	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1905114	0.87[AMR][1000 genomes]
rs2128268	0.81[ASN][1000 genomes]
rs2128269	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2170109	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2405701	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2405702	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2449256	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2449257	0.87[AMR][1000 genomes]
rs2449258	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2449259	0.87[AMR][1000 genomes]
rs2449260	0.87[AMR][1000 genomes]
rs2449273	0.87[AMR][1000 genomes]
rs2449274	0.87[AMR][1000 genomes]
rs2449276	0.87[AMR][1000 genomes]
rs2449279	0.89[AFR][1000 genomes]
rs2449280	0.87[AMR][1000 genomes]
rs2449281	0.86[AFR][1000 genomes]
rs2449287	0.84[ASN][1000 genomes]
rs2449292	0.87[AMR][1000 genomes]
rs2449303	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2449304	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2449305	0.82[AFR][1000 genomes]
rs2449306	0.82[AFR][1000 genomes]
rs2449307	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2449308	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2449311	0.87[AMR][1000 genomes]
rs2449313	0.87[AMR][1000 genomes]
rs2449316	0.87[AMR][1000 genomes]
rs2449322	0.84[AFR][1000 genomes]
rs2456328	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2456335	0.87[AMR][1000 genomes]
rs2456336	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2456339	0.87[AMR][1000 genomes]
rs2456340	0.87[AMR][1000 genomes]
rs2456341	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2456344	0.82[AFR][1000 genomes]
rs2456349	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2456350	0.82[AFR][1000 genomes]
rs2456351	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2456354	0.82[AFR][1000 genomes]
rs2489298	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2489300	0.87[AMR][1000 genomes]
rs2489301	0.82[AFR][1000 genomes]
rs2489302	0.85[AMR][1000 genomes]
rs2489322	0.87[AMR][1000 genomes]
rs2489325	0.87[AMR][1000 genomes]
rs2489327	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2489328	0.87[AMR][1000 genomes]
rs2489330	0.87[AMR][1000 genomes]
rs2489332	0.87[AMR][1000 genomes]
rs2489337	0.84[ASN][1000 genomes]
rs2489341	0.87[AMR][1000 genomes]
rs2489343	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2489344	0.85[AMR][1000 genomes]
rs2489346	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2489348	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2489352	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2501061	0.87[AMR][1000 genomes]
rs2501064	0.87[AMR][1000 genomes]
rs2501066	0.87[AMR][1000 genomes]
rs2501068	0.84[AMR][1000 genomes]
rs2501072	0.87[AMR][1000 genomes]
rs2501073	0.87[AMR][1000 genomes]
rs2501081	0.81[AMR][1000 genomes]
rs2501086	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2501100	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2501101	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2501103	0.82[AFR][1000 genomes]
rs2501107	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2501108	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2501110	0.85[ASN][1000 genomes]
rs2501112	0.82[AFR][1000 genomes]
rs2501125	0.87[AMR][1000 genomes]
rs2501129	0.87[AMR][1000 genomes]
rs2501130	0.87[AMR][1000 genomes]
rs2501133	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2501134	0.87[AMR][1000 genomes]
rs2501135	0.87[AMR][1000 genomes]
rs2501140	0.87[AMR][1000 genomes]
rs2501141	0.87[AMR][1000 genomes]
rs2501153	0.84[AMR][1000 genomes]
rs2501156	0.87[AMR][1000 genomes]
rs2929626	0.85[ASN][1000 genomes]
rs2929628	0.81[AFR][1000 genomes]
rs2939363	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3003126	0.80[AFR][1000 genomes]
rs3101904	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3101905	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3101906	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3101909	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3101910	0.85[ASN][1000 genomes]
rs3101911	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3101914	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3101916	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3101917	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3102106	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3102108	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3102109	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3102110	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3102112	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3102113	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3102115	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3102116	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105551	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105552	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105554	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105556	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105558	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105559	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105560	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3105561	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3105562	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3105563	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3105564	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3105565	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105566	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105567	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105568	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105569	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105572	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3120987	0.86[ASN][1000 genomes]
rs3120989	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3120990	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3120991	0.91[ASN][1000 genomes]
rs3120993	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3128643	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128644	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128646	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128649	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128650	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128651	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3128652	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3128653	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3128654	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3128655	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3128656	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3128657	0.90[ASN][1000 genomes]
rs3128658	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128660	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128662	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3128664	0.91[ASN][1000 genomes]
rs3128666	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3128667	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3128668	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3128675	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3128676	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56088855	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61041116	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61211002	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61849768	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6674717	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6683938	0.88[ASN][1000 genomes]
rs6686694	0.88[ASN][1000 genomes]
rs6697382	0.88[ASN][1000 genomes]
rs7521702	0.89[ASN][1000 genomes]
rs7545060	0.93[ASN][1000 genomes]
rs7548138	0.89[ASN][1000 genomes]
rs769296	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9663018	0.81[ASN][1000 genomes]
rs981067	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs995613	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873225	chr1:225162060-225373936	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv549262	chr1:225191852-225319898	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv549263	chr1:225202426-225319898	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv998899	chr1:225210813-225496353	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004856	chr1:225228287-225271137	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv526708	chr1:225229866-225273248	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1808493	chr1:225232264-225267066	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv945671	chr1:225242969-225311101	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225256400-225277400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:225257000-225262600	Weak transcription	A549	lung
3	chr1:225258000-225264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:225259000-225263000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr1:225259400-225262000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:225259800-225264600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:225260600-225263000	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr1:225260600-225263000	ZNF genes & repeats	Fetal Stomach	stomach
9	chr1:225260800-225262200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225261200-225263600	Weak transcription	Gastric	stomach
11	chr1:225261200-225274800	Weak transcription	Ovary	ovary
12	chr1:225261200-225279200	Weak transcription	Pancreas	Pancrea
13	chr1:225261400-225274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:225261800-225264000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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