Variant report

Variant	rs2391193
Chromosome Location	chr1:93264054-93264055
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93251113..93254538-chr1:93261545..93264232,3	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:204)

rs_ID	r²[population]
rs1017008	0.81[EUR][1000 genomes]
rs10218567	0.81[EUR][1000 genomes]
rs10218670	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10735782	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10735783	0.84[EUR][1000 genomes]
rs10735784	0.84[EUR][1000 genomes]
rs10747445	0.80[EUR][1000 genomes]
rs10747447	0.80[EUR][1000 genomes]
rs10747448	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs10747449	0.80[EUR][1000 genomes]
rs10747450	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10747451	0.81[EUR][1000 genomes]
rs10782938	0.80[EUR][1000 genomes]
rs10782940	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10782942	0.84[EUR][1000 genomes]
rs10782944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874715	0.80[EUR][1000 genomes]
rs10874716	0.80[EUR][1000 genomes]
rs10874721	0.80[EUR][1000 genomes]
rs10874728	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10874729	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10874730	0.80[EUR][1000 genomes]
rs10874731	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10874742	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164778	0.80[EUR][1000 genomes]
rs11164799	0.83[EUR][1000 genomes]
rs11164804	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs11164805	0.84[EUR][1000 genomes]
rs11164806	0.81[EUR][1000 genomes]
rs11164808	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs11164809	0.84[EUR][1000 genomes]
rs11164812	0.87[EUR][1000 genomes]
rs11164813	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs11164821	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164845	1.00[CHB][hapmap]
rs1182640	0.84[EUR][1000 genomes]
rs12029026	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12045019	0.80[EUR][1000 genomes]
rs12046739	0.80[EUR][1000 genomes]
rs1337108	0.84[EUR][1000 genomes]
rs1337109	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs1411706	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1415294	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1415295	0.81[EUR][1000 genomes]
rs1467559	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537498	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs1538029	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs1556564	0.80[CEU][hapmap]
rs1556565	0.89[CEU][hapmap]
rs1610319	0.90[ASN][1000 genomes]
rs1929138	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932965	0.80[EUR][1000 genomes]
rs1932966	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1932967	0.84[EUR][1000 genomes]
rs1977223	0.88[AFR][1000 genomes]
rs1977227	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1977228	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1977229	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1999819	0.81[EUR][1000 genomes]
rs2025100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2025101	0.84[EUR][1000 genomes]
rs2027059	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs2027060	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs2039451	0.80[EUR][1000 genomes]
rs2039452	0.80[CEU][hapmap]
rs2039453	0.80[EUR][1000 genomes]
rs2050597	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs2065916	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs2065917	0.81[EUR][1000 genomes]
rs2077529	0.83[EUR][1000 genomes]
rs2095265	0.80[EUR][1000 genomes]
rs2095266	0.80[EUR][1000 genomes]
rs2095268	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs2097838	0.81[EUR][1000 genomes]
rs2107520	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs2107521	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2158446	0.84[EUR][1000 genomes]
rs2180977	0.84[EUR][1000 genomes]
rs2244005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244496	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2298912	0.84[EUR][1000 genomes]
rs2391164	0.80[EUR][1000 genomes]
rs2391179	0.88[EUR][1000 genomes]
rs2391194	0.84[EUR][1000 genomes]
rs2391196	0.84[EUR][1000 genomes]
rs2391199	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2391200	0.80[EUR][1000 genomes]
rs2391201	0.81[EUR][1000 genomes]
rs2774940	0.85[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2774943	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2811599	1.00[CHB][hapmap]
rs2811602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2893217	0.80[EUR][1000 genomes]
rs2989014	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35054144	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs3790445	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs3790446	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs3898498	0.80[EUR][1000 genomes]
rs3898499	0.80[EUR][1000 genomes]
rs3928821	0.80[EUR][1000 genomes]
rs3936946	0.80[EUR][1000 genomes]
rs4000726	0.80[EUR][1000 genomes]
rs4120650	0.80[EUR][1000 genomes]
rs4240962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4264007	0.84[EUR][1000 genomes]
rs4417075	0.80[EUR][1000 genomes]
rs4525050	0.84[EUR][1000 genomes]
rs4638137	0.84[EUR][1000 genomes]
rs4847217	0.84[EUR][1000 genomes]
rs4847221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847222	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847232	0.80[EUR][1000 genomes]
rs4847234	0.80[EUR][1000 genomes]
rs4847247	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs4847266	0.81[EUR][1000 genomes]
rs4847280	0.80[EUR][1000 genomes]
rs4847285	0.84[EUR][1000 genomes]
rs4847304	0.84[EUR][1000 genomes]
rs4847305	0.80[EUR][1000 genomes]
rs4847309	0.84[EUR][1000 genomes]
rs4847310	0.84[EUR][1000 genomes]
rs4847327	0.80[EUR][1000 genomes]
rs4847363	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4847370	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs4847400	0.80[EUR][1000 genomes]
rs4847427	0.80[EUR][1000 genomes]
rs6422515	0.80[EUR][1000 genomes]
rs6603993	0.80[EUR][1000 genomes]
rs6603994	0.80[EUR][1000 genomes]
rs6603999	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs6604000	0.80[EUR][1000 genomes]
rs6604003	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs6604004	0.81[EUR][1000 genomes]
rs6604010	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6604012	0.84[EUR][1000 genomes]
rs6604015	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6604018	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs6604022	0.84[EUR][1000 genomes]
rs6604025	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6659942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660296	0.84[EUR][1000 genomes]
rs6661600	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs6665579	0.84[EUR][1000 genomes]
rs6669914	0.83[EUR][1000 genomes]
rs6671114	0.80[EUR][1000 genomes]
rs6671421	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs6675246	0.80[EUR][1000 genomes]
rs6676454	0.84[EUR][1000 genomes]
rs6679839	0.81[EUR][1000 genomes]
rs6685705	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6687803	0.80[EUR][1000 genomes]
rs6687994	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6693371	0.87[EUR][1000 genomes]
rs6696636	0.80[CEU][hapmap]
rs6701130	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs6703467	0.80[CEU][hapmap]
rs723909	0.84[EUR][1000 genomes]
rs7416169	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7513624	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513815	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7514716	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7515478	0.80[EUR][1000 genomes]
rs7516141	0.80[CEU][hapmap]
rs7521345	0.84[EUR][1000 genomes]
rs7526582	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7527356	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527835	0.81[EUR][1000 genomes]
rs7529332	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs7529630	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7532731	0.95[ASN][1000 genomes]
rs7538520	0.80[EUR][1000 genomes]
rs7540407	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7541829	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543077	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543112	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543327	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7543964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7545318	0.80[EUR][1000 genomes]
rs7549844	0.84[EUR][1000 genomes]
rs7551340	0.85[ASN][1000 genomes]
rs7551880	0.87[EUR][1000 genomes]
rs7552085	0.84[EUR][1000 genomes]
rs7553367	0.80[EUR][1000 genomes]
rs7554183	0.80[EUR][1000 genomes]
rs7554868	0.84[EUR][1000 genomes]
rs7556243	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs757469	0.84[EUR][1000 genomes]
rs914064	0.81[EUR][1000 genomes]
rs914966	0.80[EUR][1000 genomes]
rs927339	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs932637	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs9439917	0.80[EUR][1000 genomes]
rs9439920	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs9439924	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945724	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs963043	0.80[EUR][1000 genomes]
rs963044	0.80[EUR][1000 genomes]
rs9633481	0.80[EUR][1000 genomes]
rs9651256	0.80[EUR][1000 genomes]
rs9662515	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs976208	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs976209	0.84[EUR][1000 genomes]
rs980940	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
3	chr1:93258800-93269800	Weak transcription	Fetal Heart	heart
4	chr1:93261200-93270200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:93261400-93268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:93261600-93270000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:93263200-93264200	Enhancers	Osteobl	bone
8	chr1:93263200-93264400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:93263800-93264200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:93263800-93270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:93264000-93269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:93264000-93269800	Weak transcription	NH-A	brain

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