Variant report

Variant	rs12500697
Chromosome Location	chr4:75088979-75088980
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	chr4:75088731..75091267-chr4:75171967..75174863,2	K562	blood:

Variant related genes	Relation type
ENSG00000182585	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10009707	0.81[EUR][1000 genomes]
rs10013212	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10017409	0.81[EUR][1000 genomes]
rs10017417	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10018373	0.89[EUR][1000 genomes]
rs10019396	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10023519	0.83[EUR][1000 genomes]
rs10026687	0.83[EUR][1000 genomes]
rs10028285	0.80[EUR][1000 genomes]
rs10433673	0.88[EUR][1000 genomes]
rs10938112	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11724468	0.92[EUR][1000 genomes]
rs11731340	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11737662	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11945418	0.90[EUR][1000 genomes]
rs1246575	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246577	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246578	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1246579	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246580	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246582	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246584	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246587	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246588	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246590	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246591	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1246594	0.93[EUR][1000 genomes]
rs1246597	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1265327	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116896	0.88[EUR][1000 genomes]
rs13142241	0.93[EUR][1000 genomes]
rs1371796	0.92[EUR][1000 genomes]
rs1371797	0.87[EUR][1000 genomes]
rs1380561	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1460016	0.90[EUR][1000 genomes]
rs1460017	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16850862	0.81[EUR][1000 genomes]
rs17232394	0.83[EUR][1000 genomes]
rs1964526	0.88[EUR][1000 genomes]
rs2045618	0.89[EUR][1000 genomes]
rs2061508	0.81[EUR][1000 genomes]
rs2367555	0.86[EUR][1000 genomes]
rs2367745	0.85[EUR][1000 genomes]
rs28378517	0.84[EUR][1000 genomes]
rs28436705	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28539097	0.82[EUR][1000 genomes]
rs28592249	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28644493	0.81[EUR][1000 genomes]
rs28695994	0.90[EUR][1000 genomes]
rs4371587	0.82[EUR][1000 genomes]
rs4502653	0.83[EUR][1000 genomes]
rs4577545	0.83[EUR][1000 genomes]
rs4694184	0.88[EUR][1000 genomes]
rs488440	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536541	0.87[EUR][1000 genomes]
rs565831	0.87[EUR][1000 genomes]
rs62312513	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62312515	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62312545	0.83[EUR][1000 genomes]
rs6446984	0.82[EUR][1000 genomes]
rs6446985	0.82[EUR][1000 genomes]
rs6811214	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6819605	0.81[EUR][1000 genomes]
rs6821664	0.84[EUR][1000 genomes]
rs6854203	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6854723	0.83[EUR][1000 genomes]
rs6858809	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7659389	0.81[EUR][1000 genomes]
rs7665105	0.81[EUR][1000 genomes]
rs7670535	0.84[EUR][1000 genomes]
rs7672588	0.82[EUR][1000 genomes]
rs7676371	0.87[EUR][1000 genomes]
rs7678292	0.89[EUR][1000 genomes]
rs7681137	0.87[EUR][1000 genomes]
rs7681763	0.87[EUR][1000 genomes]
rs7681912	0.91[EUR][1000 genomes]
rs7683181	0.91[EUR][1000 genomes]
rs9992393	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9997322	0.83[EUR][1000 genomes]
rs9997788	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv437397	chr4:75077057-75095061	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
5	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
6	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:75072200-75099200	Weak transcription	Ovary	ovary
9	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:75073800-75089400	Weak transcription	A549	lung
11	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
13	chr4:75074600-75091200	Weak transcription	Liver	Liver
14	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
15	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:75080800-75095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:75080800-75095400	Weak transcription	Fetal Thymus	thymus
18	chr4:75081000-75091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:75081400-75091000	Weak transcription	Left Ventricle	heart
20	chr4:75084200-75096400	Weak transcription	GM12878-XiMat	blood
21	chr4:75085400-75089800	Weak transcription	HSMMtube	muscle
22	chr4:75085400-75102600	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:75085600-75091000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:75085800-75089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:75085800-75089800	Weak transcription	HMEC	breast
26	chr4:75085800-75089800	Weak transcription	HSMM	muscle
27	chr4:75085800-75094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:75086000-75089400	Weak transcription	NHEK	skin
29	chr4:75086000-75096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:75086200-75089200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:75086200-75089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:75086200-75089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:75086200-75117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:75087200-75089600	Weak transcription	Hela-S3	cervix
35	chr4:75088200-75089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:75088400-75089400	Weak transcription	Osteobl	bone
37	chr4:75088600-75089200	Enhancers	NHDF-Ad	bronchial
38	chr4:75088600-75089800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:75088600-75092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:75088800-75091600	Weak transcription	Brain Cingulate Gyrus	brain

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