Variant report

Variant	rs10914007
Chromosome Location	chr1:180448546-180448547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180446739..180449088-chr1:180449481..180452200,3	MCF-7	breast:
2	chr1:180447230..180448996-chr1:180450484..180453034,2	K562	blood:
3	chr1:180445158..180449486-chr1:180469898..180473784,7	MCF-7	breast:
4	chr1:180442608..180444717-chr1:180447768..180449648,2	K562	blood:
5	chr1:180425851..180427880-chr1:180446701..180449682,2	K562	blood:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10494525	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10737342	0.88[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10798752	0.89[ASN][1000 genomes]
rs10798753	0.89[ASN][1000 genomes]
rs10798754	0.89[ASN][1000 genomes]
rs10798761	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10798767	0.83[JPT][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10913969	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913970	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913994	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914002	0.88[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10914023	0.82[JPT][hapmap]
rs12024156	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12034669	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12039331	0.94[JPT][hapmap]
rs12039933	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12045123	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12045636	0.84[ASN][1000 genomes]
rs12085808	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12091722	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12142124	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12402815	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403226	0.82[JPT][hapmap]
rs12403665	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12404209	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12405902	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12407122	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12691484	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs12733492	0.80[ASN][1000 genomes]
rs1341924	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418102	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1575710	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16856087	0.92[EUR][1000 genomes]
rs1890731	0.89[ASN][1000 genomes]
rs28506072	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877399	0.89[ASN][1000 genomes]
rs2877415	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737584	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806300	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs4424469	0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4436345	0.89[ASN][1000 genomes]
rs4483365	0.88[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs4543756	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4562579	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4593778	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4642852	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4652495	0.87[ASN][1000 genomes]
rs4652496	0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs4652498	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4652499	0.83[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs55874160	0.89[ASN][1000 genomes]
rs60286873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425625	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6425634	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425644	0.83[JPT][hapmap]
rs6657492	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6659513	0.89[ASN][1000 genomes]
rs6661208	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6678216	0.89[ASN][1000 genomes]
rs6680368	0.88[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6687081	0.81[EUR][1000 genomes]
rs6699076	0.87[JPT][hapmap]
rs72720915	0.90[ASN][1000 genomes]
rs72720917	0.90[ASN][1000 genomes]
rs7519288	1.00[CEU][hapmap]
rs7526189	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7538219	0.89[ASN][1000 genomes]
rs7538303	0.89[ASN][1000 genomes]
rs7539910	0.89[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7544585	0.89[ASN][1000 genomes]
rs822706	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs9701037	0.91[ASN][1000 genomes]
rs9729819	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
2	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
4	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
6	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
7	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:180432000-180451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:180433600-180454200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:180433800-180455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
13	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:180434400-180451400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:180434800-180451400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:180435000-180456400	Weak transcription	Fetal Kidney	kidney
18	chr1:180435200-180454400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:180435600-180448600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:180436600-180450400	Weak transcription	NHDF-Ad	bronchial
22	chr1:180437600-180448800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:180437600-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:180437600-180454600	Weak transcription	Gastric	stomach
25	chr1:180437600-180455200	Weak transcription	Ovary	ovary
26	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
27	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
28	chr1:180437600-180471000	Weak transcription	Lung	lung
29	chr1:180437800-180454400	Weak transcription	Fetal Intestine Large	intestine
30	chr1:180438200-180451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:180438400-180453000	Weak transcription	Placenta	Placenta
32	chr1:180438600-180451400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:180438600-180454400	Weak transcription	Fetal Thymus	thymus
34	chr1:180438800-180451400	Weak transcription	HUVEC	blood vessel
35	chr1:180438800-180454400	Weak transcription	HepG2	liver
36	chr1:180439200-180448600	Weak transcription	NHEK	skin
37	chr1:180440000-180451800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:180440000-180455200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:180440000-180469000	Weak transcription	HSMMtube	muscle
40	chr1:180440200-180468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:180440200-180469000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:180441400-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:180441400-180455200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:180441600-180448600	Weak transcription	GM12878-XiMat	blood
45	chr1:180441600-180453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:180441800-180448600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:180441800-180462800	Weak transcription	NHLF	lung
48	chr1:180442200-180451800	Weak transcription	Hela-S3	cervix
49	chr1:180442200-180454800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:180442200-180454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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