Variant report

Variant	rs10915748
Chromosome Location	chr1:225158626-225158627
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225151942..225154325-chr1:225156559..225160933,3	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10399821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs10399941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10495231	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10799282	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10799283	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10799293	0.85[ASN][1000 genomes]
rs10915733	0.89[ASN][1000 genomes]
rs10915743	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915745	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915747	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915757	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915758	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915761	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10915763	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915778	0.85[ASN][1000 genomes]
rs10915780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10915781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10915785	0.85[ASN][1000 genomes]
rs10915786	0.82[ASN][1000 genomes]
rs10915788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10915789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11487461	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11487462	0.85[ASN][1000 genomes]
rs12059834	0.85[ASN][1000 genomes]
rs12060676	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12061133	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12061172	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12061265	0.85[ASN][1000 genomes]
rs12061874	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12062457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12062461	0.85[ASN][1000 genomes]
rs12066443	0.85[ASN][1000 genomes]
rs12067756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12068014	0.81[ASN][1000 genomes]
rs12068731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12068939	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12069353	0.81[ASN][1000 genomes]
rs12069537	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12069808	0.85[ASN][1000 genomes]
rs12070493	0.81[ASN][1000 genomes]
rs12071270	0.85[ASN][1000 genomes]
rs12071453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12071776	0.85[ASN][1000 genomes]
rs12072713	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12073050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12073648	0.85[ASN][1000 genomes]
rs12074130	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12074382	0.85[ASN][1000 genomes]
rs12074718	0.81[ASN][1000 genomes]
rs12075769	0.85[ASN][1000 genomes]
rs12077191	0.89[ASN][1000 genomes]
rs12078470	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12078559	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12078696	0.81[ASN][1000 genomes]
rs12080062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12082397	1.00[ASN][1000 genomes]
rs12084177	0.85[ASN][1000 genomes]
rs12084937	0.85[ASN][1000 genomes]
rs12086122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12086373	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12086473	0.85[ASN][1000 genomes]
rs12087715	0.85[ASN][1000 genomes]
rs12088836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12090519	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12092671	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12093086	1.00[ASN][1000 genomes]
rs12093545	0.86[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12095812	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12095841	0.92[ASN][1000 genomes]
rs12095892	0.85[ASN][1000 genomes]
rs12096616	0.85[ASN][1000 genomes]
rs12097532	0.85[ASN][1000 genomes]
rs12097555	0.81[ASN][1000 genomes]
rs12097577	0.85[ASN][1000 genomes]
rs1480102	0.85[ASN][1000 genomes]
rs1482278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16844321	0.85[ASN][1000 genomes]
rs16844341	0.85[ASN][1000 genomes]
rs16844389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16858094	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16858965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2127558	0.85[ASN][1000 genomes]
rs2153246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2170110	0.85[ASN][1000 genomes]
rs2244108	0.92[ASN][1000 genomes]
rs2244109	0.92[ASN][1000 genomes]
rs2244198	0.92[ASN][1000 genomes]
rs2254430	0.92[ASN][1000 genomes]
rs2406099	0.92[ASN][1000 genomes]
rs2449279	0.92[ASN][1000 genomes]
rs2449305	0.92[ASN][1000 genomes]
rs2449306	0.92[ASN][1000 genomes]
rs2456344	0.92[ASN][1000 genomes]
rs2456350	0.92[ASN][1000 genomes]
rs2456354	0.92[ASN][1000 genomes]
rs2501103	0.92[ASN][1000 genomes]
rs2501112	0.85[ASN][1000 genomes]
rs2662910	0.92[ASN][1000 genomes]
rs2662911	0.92[ASN][1000 genomes]
rs2662913	0.92[ASN][1000 genomes]
rs2802546	0.92[ASN][1000 genomes]
rs2802567	0.92[ASN][1000 genomes]
rs2802736	0.92[ASN][1000 genomes]
rs28510743	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28673436	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28793649	0.85[ASN][1000 genomes]
rs28871966	0.85[ASN][1000 genomes]
rs3991375	0.81[ASN][1000 genomes]
rs4256778	0.92[ASN][1000 genomes]
rs4275419	0.85[ASN][1000 genomes]
rs55708629	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56302122	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57262741	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59318794	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59730777	0.85[ASN][1000 genomes]
rs60619295	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60782238	0.85[ASN][1000 genomes]
rs61483735	0.85[ASN][1000 genomes]
rs6656178	0.85[ASN][1000 genomes]
rs6662177	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6666025	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6680233	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6680659	0.85[ASN][1000 genomes]
rs6683197	0.85[ASN][1000 genomes]
rs6689287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6689608	0.85[ASN][1000 genomes]
rs6694400	0.92[ASN][1000 genomes]
rs6698942	0.85[ASN][1000 genomes]
rs6700281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704159	0.85[ASN][1000 genomes]
rs74146611	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74147131	0.85[ASN][1000 genomes]
rs74149417	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74149420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74149426	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74149428	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74149429	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74149436	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7418261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7527885	1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7533311	0.85[ASN][1000 genomes]
rs7535962	0.85[ASN][1000 genomes]
rs7550540	0.85[ASN][1000 genomes]
rs769297	0.85[ASN][1000 genomes]
rs9725252	0.85[ASN][1000 genomes]
rs9919164	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1804634	chr1:225137134-225206826	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225138800-225163800	Weak transcription	Hela-S3	cervix
2	chr1:225141400-225158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:225141400-225162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:225141600-225159000	Weak transcription	Ovary	ovary
5	chr1:225141800-225159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:225141800-225160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:225142800-225162200	Weak transcription	Fetal Kidney	kidney
8	chr1:225142800-225164400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:225143400-225161800	Weak transcription	A549	lung
10	chr1:225145200-225160600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:225145600-225158800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:225150400-225160600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:225150400-225167200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:225150400-225171200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:225153400-225160800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:225157200-225159400	Weak transcription	K562	blood
17	chr1:225157200-225172200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:225157400-225161800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:225157400-225163800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:225157400-225165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:225157600-225164000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:225157600-225165400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:225157600-225201400	Weak transcription	Pancreas	Pancrea

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