Variant report

Variant	rs10915744
Chromosome Location	chr1:225116814-225116815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:225116797-225117930	A549	lung:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
2	POLR2A	chr1:225116662-225118212	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr1:225116765-225118477	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:225116781-225118278	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr1:225116736-225118300	HCT-116	colon:	n/a	chr1:225117594-225117603
6	E2F6	chr1:225116660-225118013	H1-hESC	embryonic stem cell:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
7	MAX	chr1:225116781-225117975	HCT-116	colon:	n/a	chr1:225117594-225117603

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225116699..225117668-chr3:73160108..73161088,2	Hela-S3	cervix:

Variant related genes	Relation type
DNAH14	TF binding region
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10399821	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10399941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10495231	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10799282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10799283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915733	0.96[ASN][1000 genomes]
rs10915743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915745	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915747	1.00[CHB][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10915761	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10915762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10915763	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10915780	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10915781	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11487461	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12060676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061172	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12061874	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12067756	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12068731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12068939	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12069537	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12071453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12072713	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12073050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12074130	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12077191	0.96[ASN][1000 genomes]
rs12078470	1.00[AMR][1000 genomes]
rs12078559	1.00[AMR][1000 genomes]
rs12080062	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12082397	0.92[ASN][1000 genomes]
rs12086122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12086373	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12088836	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12090519	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12092671	1.00[AMR][1000 genomes]
rs12093086	0.92[ASN][1000 genomes]
rs12093545	0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12095812	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12095841	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12097532	0.92[ASN][1000 genomes]
rs12097577	0.92[ASN][1000 genomes]
rs1482278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16858094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16858965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2244108	1.00[ASN][1000 genomes]
rs2244109	1.00[ASN][1000 genomes]
rs2244198	1.00[ASN][1000 genomes]
rs2254430	1.00[ASN][1000 genomes]
rs2406099	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2449279	0.85[ASN][1000 genomes]
rs2449305	0.85[ASN][1000 genomes]
rs2449306	0.85[ASN][1000 genomes]
rs2456344	0.85[ASN][1000 genomes]
rs2456350	0.85[ASN][1000 genomes]
rs2456354	0.85[ASN][1000 genomes]
rs2501103	0.85[ASN][1000 genomes]
rs2662910	1.00[ASN][1000 genomes]
rs2662911	1.00[ASN][1000 genomes]
rs2662913	1.00[ASN][1000 genomes]
rs2802546	1.00[ASN][1000 genomes]
rs2802547	0.86[ASN][1000 genomes]
rs2802567	1.00[ASN][1000 genomes]
rs2802736	1.00[ASN][1000 genomes]
rs28510743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28673436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4256778	1.00[ASN][1000 genomes]
rs55708629	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56302122	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57262741	1.00[AMR][1000 genomes]
rs59318794	1.00[ASN][1000 genomes]
rs60619295	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6662177	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6666025	1.00[AMR][1000 genomes]
rs6680233	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6689287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6694400	1.00[ASN][1000 genomes]
rs6700281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74146611	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs74149417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74149420	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74149426	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74149428	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74149429	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74149436	0.85[ASN][1000 genomes]
rs7418261	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7527885	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225110200-225117000	Weak transcription	Gastric	stomach
2	chr1:225110400-225117000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225110400-225117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:225110400-225117000	Weak transcription	Pancreas	Pancrea
5	chr1:225111600-225117000	Weak transcription	NH-A	brain
6	chr1:225112400-225117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:225113000-225117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:225116800-225117000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:225116800-225117000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:225116800-225117000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:225116800-225117000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:225116800-225117000	Enhancers	Adipose Nuclei	Adipose
13	chr1:225116800-225117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:225116800-225117000	Enhancers	Placenta	Placenta
15	chr1:225116800-225117000	Enhancers	Fetal Thymus	thymus
16	chr1:225116800-225117000	Enhancers	HMEC	breast
17	chr1:225116800-225117000	Active TSS	HUVEC	blood vessel
18	chr1:225116800-225117200	Flanking Active TSS	Liver	Liver
19	chr1:225116800-225118000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:225116800-225118200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:225116800-225118400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:225116800-225118400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:225116800-225118400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:225116800-225118400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:225116800-225118600	Active TSS	A549	lung
26	chr1:225116800-225118800	Active TSS	Hela-S3	cervix

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