Variant report

Variant	rs10858018
Chromosome Location	chr1:114311768-114311769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:114311590-114312130	GM12878	blood:	n/a	chr1:114312054-114312067
2	SP1	chr1:114311595-114311833	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114310669..114312600-chr1:114322357..114324500,2	MCF-7	breast:
2	chr1:114301057..114304105-chr1:114310097..114314111,4	MCF-7	breast:
3	chr1:114311260..114313191-chr1:114320305..114322198,2	K562	blood:
4	chr1:114311052..114314058-chr1:114447909..114449535,3	MCF-7	breast:
5	chr1:114310854..114312625-chr1:114314961..114316732,2	MCF-7	breast:
6	chr1:114307794..114309970-chr1:114311148..114314125,2	MCF-7	breast:
7	chr1:114307008..114312126-chr1:114352475..114355930,7	MCF-7	breast:
8	chr1:114311133..114313597-chr1:114354169..114355783,2	MCF-7	breast:

No data

Variant related genes	Relation type
RSBN1	TF binding region
ENSG00000116793	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000081019	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10858007	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap]
rs10858008	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap]
rs10858011	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap]
rs10858017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10858019	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10858021	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11102661	0.84[EUR][1000 genomes]
rs11102669	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11102691	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs1113523	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs1146182	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1146187	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041547	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12060836	0.85[YRI][hapmap]
rs12061482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12063216	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12069381	0.85[YRI][hapmap]
rs12071676	0.85[YRI][hapmap]
rs12094790	0.85[YRI][hapmap]
rs1217192	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1217193	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs1217199	0.82[CEU][hapmap]
rs1217200	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs1217201	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1217210	0.90[EUR][1000 genomes]
rs1217211	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs1217226	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1217227	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1217228	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1217234	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1217235	0.83[CEU][hapmap]
rs1217236	0.82[CEU][hapmap]
rs1217376	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217386	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217407	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217413	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217415	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs1217416	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217421	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230637	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230638	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230639	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230642	0.83[ASN][1000 genomes]
rs1230645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230646	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230655	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1230656	0.81[EUR][1000 genomes]
rs1230658	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230659	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs1230663	0.85[EUR][1000 genomes]
rs1230671	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1230674	0.84[EUR][1000 genomes]
rs1230678	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230679	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230683	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1230685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230687	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1237289	0.83[CEU][hapmap]
rs1237682	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12565589	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs12566340	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1599971	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17031716	0.86[CHB][hapmap]
rs1743605	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1746853	0.82[CHB][hapmap]
rs1775754	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1777237	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1777238	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1777241	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1935838	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1936398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243471	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359167	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2488457	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2488458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2636002	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2636014	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2797408	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2797409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2797412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798135	0.89[EUR][1000 genomes]
rs2798138	0.89[EUR][1000 genomes]
rs4145859	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4423005	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565712	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4600045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4838997	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838998	0.83[ASN][1000 genomes]
rs4839335	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61817589	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6537795	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6663679	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7526209	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7529353	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7553188	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats 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 target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114302400-114311800	Weak transcription	Small Intestine	intestine
2	chr1:114302600-114318000	Weak transcription	Spleen	Spleen
3	chr1:114302600-114321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:114302800-114311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:114302800-114312200	Weak transcription	Stomach Mucosa	stomach
6	chr1:114302800-114315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:114302800-114323200	Weak transcription	Aorta	Aorta
8	chr1:114302800-114323600	Weak transcription	Psoas Muscle	Psoas
9	chr1:114302800-114326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:114302800-114326200	Weak transcription	Pancreas	Pancrea
11	chr1:114302800-114326200	Weak transcription	Right Ventricle	heart
12	chr1:114303000-114315800	Weak transcription	Fetal Stomach	stomach
13	chr1:114303000-114318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:114303000-114319000	Weak transcription	Fetal Brain Male	brain
15	chr1:114303000-114319000	Weak transcription	HSMMtube	muscle
16	chr1:114303000-114323200	Weak transcription	Fetal Heart	heart
17	chr1:114303000-114326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:114303200-114311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:114303200-114311800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:114303200-114317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:114303200-114328400	Weak transcription	A549	lung
22	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:114304800-114320600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:114306200-114312600	Strong transcription	Dnd41	blood
25	chr1:114307200-114314000	Strong transcription	Primary B cells from cord blood	blood
26	chr1:114307400-114311800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:114307400-114312000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:114307400-114313000	Strong transcription	K562	blood
29	chr1:114307600-114312400	Strong transcription	Primary T cells from cord blood	blood
30	chr1:114307800-114312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:114308000-114312200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:114308000-114313000	Strong transcription	Fetal Thymus	thymus
33	chr1:114308200-114326600	Weak transcription	Colonic Mucosa	Colon
34	chr1:114309000-114311800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:114309000-114311800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:114309000-114315800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:114309000-114323600	Weak transcription	Gastric	stomach
38	chr1:114309400-114311800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:114309400-114312600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:114309600-114311800	Weak transcription	NHLF	lung
41	chr1:114309600-114312600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:114309800-114312400	Weak transcription	GM12878-XiMat	blood
44	chr1:114310000-114312000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:114310000-114314400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:114310200-114311800	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:114310200-114319000	Weak transcription	Left Ventricle	heart
48	chr1:114310400-114313400	Enhancers	Brain Germinal Matrix	brain
49	chr1:114310400-114313600	Enhancers	Colon Smooth Muscle	Colon
50	chr1:114310600-114312000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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