Variant report

Variant	rs10914016
Chromosome Location	chr1:180488119-180488120
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	chr1:180486117..180489431-chr1:180599413..180603700,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10158367	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10465516	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10494527	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753208	0.88[ASN][1000 genomes]
rs10753209	1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753211	0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10753212	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10753216	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798745	0.83[ASN][1000 genomes]
rs10798746	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798756	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798757	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798759	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798760	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798762	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798766	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798769	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798770	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798771	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913968	0.86[ASN][1000 genomes]
rs10913973	0.86[ASN][1000 genomes]
rs10913974	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913976	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913978	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913980	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913981	0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913982	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913983	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913984	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913985	0.92[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913986	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913987	1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913998	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914001	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914005	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10914010	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10914014	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10914017	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10914018	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10914023	0.88[EUR][1000 genomes]
rs10914028	0.80[EUR][1000 genomes]
rs11580793	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11799870	0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12024201	0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12034217	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12121043	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12122338	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127886	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12128560	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12129511	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12129784	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12131071	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12132837	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12135463	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12136111	0.88[EUR][1000 genomes]
rs12141348	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12141848	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12143350	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12561776	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12565492	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12730889	0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12733492	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1416821	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1538620	1.00[ASN][1000 genomes]
rs1538622	0.81[EUR][1000 genomes]
rs1890731	0.82[ASN][1000 genomes]
rs1970400	0.90[ASN][1000 genomes]
rs2105232	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806301	0.88[ASN][1000 genomes]
rs3923222	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4076403	0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4142992	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4418555	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4420052	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4421553	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4442335	0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4578179	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4607831	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4634864	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4651064	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652504	0.86[ASN][1000 genomes]
rs4652505	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425641	0.92[ASN][1000 genomes]
rs6665719	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6670544	0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674244	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6687442	0.90[ASN][1000 genomes]
rs6687549	0.89[ASN][1000 genomes]
rs6697924	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6699585	0.91[ASN][1000 genomes]
rs6700986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704334	0.91[ASN][1000 genomes]
rs6704437	0.91[ASN][1000 genomes]
rs7523003	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7523857	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7528650	0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7532806	0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7540276	0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7543366	0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9726041	0.90[ASN][1000 genomes]
rs9730180	0.90[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	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
3	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
2	chr1:180481800-180491200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:180485400-180489000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:180485400-180489000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:180485600-180488800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:180485600-180488800	Weak transcription	HepG2	liver
7	chr1:180485600-180490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:180485600-180490600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:180485600-180490600	Weak transcription	K562	blood
10	chr1:180485600-180490800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:180485600-180490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:180485600-180490800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:180485800-180490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:180485800-180491200	Weak transcription	HSMMtube	muscle
15	chr1:180486000-180490600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:180486000-180490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:180486000-180493400	Weak transcription	Fetal Stomach	stomach
18	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:180486200-180490600	Weak transcription	A549	lung
20	chr1:180486400-180488200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:180486400-180488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:180486400-180490600	Weak transcription	Hela-S3	cervix
23	chr1:180486400-180490600	Weak transcription	HMEC	breast
24	chr1:180486400-180490600	Weak transcription	NHEK	skin
25	chr1:180486400-180490800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:180486400-180490800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:180486400-180490800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:180486400-180493800	Weak transcription	Fetal Lung	lung
29	chr1:180487600-180490600	Weak transcription	Pancreas	Pancrea
30	chr1:180488000-180488800	Enhancers	HUVEC	blood vessel
31	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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