Variant report

Variant	rs10783307
Chromosome Location	chr12:49529605-49529606
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	chr12:49523677..49527856-chr12:49529578..49534524,9	MCF-7	breast:
2	chr12:49529524..49531633-chr12:49594267..49596697,2	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1039225	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1057548	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10747561	0.83[CEU][hapmap];0.81[ASN][1000 genomes]
rs10747562	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783302	0.83[ASN][1000 genomes]
rs10783304	0.82[ASN][1000 genomes]
rs10783306	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783308	0.96[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875924	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875925	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875927	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10875928	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875929	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10875930	0.89[EUR][1000 genomes]
rs10875931	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11168857	0.83[CEU][hapmap]
rs11168862	0.88[CEU][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168867	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168874	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168882	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168883	0.84[EUR][1000 genomes]
rs11168884	0.88[CEU][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168885	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168888	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168890	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168894	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168895	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168901	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168902	0.86[EUR][1000 genomes]
rs11168903	0.87[EUR][1000 genomes]
rs11168904	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11168909	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168910	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11837207	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12227296	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12227610	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12227770	0.88[EUR][1000 genomes]
rs12228775	0.84[EUR][1000 genomes]
rs12229524	0.88[CEU][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12229529	0.87[EUR][1000 genomes]
rs12306494	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12318740	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579015	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1476137	0.88[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476138	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1874908	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1991427	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1991428	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2016107	0.84[EUR][1000 genomes]
rs2047101	0.83[ASN][1000 genomes]
rs2114845	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2114846	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2162643	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2162644	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241727	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279596	0.83[CEU][hapmap];0.83[ASN][1000 genomes]
rs2334930	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2334931	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2753	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2878287	0.89[EUR][1000 genomes]
rs35884657	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741621	0.83[CEU][hapmap];0.81[ASN][1000 genomes]
rs57853986	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58336603	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58711211	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6580701	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580703	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs697624	0.88[EUR][1000 genomes]
rs73110168	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311346	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs731350	0.87[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7953169	0.88[EUR][1000 genomes]
rs7954521	0.88[CEU][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7954530	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7957983	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7957998	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7958241	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs7958572	0.84[CEU][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969963	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969967	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7976890	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978448	0.86[ASN][1000 genomes]
rs7978659	0.86[ASN][1000 genomes]
rs9325145	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9739878	0.87[EUR][1000 genomes]
rs9788139	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788140	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49526200-49531200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:49527000-49530600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:49527000-49532000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:49527000-49532400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:49527000-49533000	Weak transcription	Fetal Stomach	stomach
6	chr12:49527000-49534400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
8	chr12:49527200-49531400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:49527200-49531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:49527200-49533000	Weak transcription	Fetal Brain Female	brain
11	chr12:49527600-49531200	Weak transcription	Fetal Lung	lung
12	chr12:49527600-49531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49527600-49532000	Weak transcription	K562	blood
14	chr12:49527600-49532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:49527600-49532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:49527600-49542400	Weak transcription	A549	lung
17	chr12:49527800-49531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:49527800-49531400	Weak transcription	Placenta	Placenta
19	chr12:49527800-49532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:49527800-49534600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:49527800-49537200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:49527800-49542400	Weak transcription	Fetal Brain Male	brain
23	chr12:49527800-49542800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:49527800-49543000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:49528000-49531800	Weak transcription	Hela-S3	cervix
26	chr12:49528000-49532000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:49528000-49532200	Weak transcription	Dnd41	blood
28	chr12:49528000-49532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:49528000-49544000	Weak transcription	GM12878-XiMat	blood

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