Variant report

Variant	rs1371796
Chromosome Location	chr4:75086184-75086185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75085650..75087545-chr4:75089867..75092462,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10009707	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10013212	0.80[EUR][1000 genomes]
rs10017409	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10017417	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10018373	0.82[EUR][1000 genomes]
rs10019396	0.81[EUR][1000 genomes]
rs10028285	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1037824	0.83[EUR][1000 genomes]
rs10433673	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10938112	0.81[EUR][1000 genomes]
rs11724468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731340	0.85[EUR][1000 genomes]
rs11737662	0.83[EUR][1000 genomes]
rs11945418	0.83[EUR][1000 genomes]
rs1246575	0.87[EUR][1000 genomes]
rs1246577	0.88[EUR][1000 genomes]
rs1246578	0.88[EUR][1000 genomes]
rs1246579	0.88[EUR][1000 genomes]
rs1246580	0.90[EUR][1000 genomes]
rs1246582	0.88[EUR][1000 genomes]
rs1246584	0.88[EUR][1000 genomes]
rs1246586	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1246587	0.88[EUR][1000 genomes]
rs1246588	0.88[EUR][1000 genomes]
rs1246590	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1246591	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1246594	0.85[EUR][1000 genomes]
rs1246597	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12500697	0.92[EUR][1000 genomes]
rs1265327	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13116896	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13142241	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1371797	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1380561	0.85[EUR][1000 genomes]
rs1460016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1460017	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16850862	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16850883	0.83[EUR][1000 genomes]
rs1964526	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2045616	0.83[EUR][1000 genomes]
rs2045617	0.83[EUR][1000 genomes]
rs2045618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061508	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2367555	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367745	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28539097	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28644493	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28695994	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4577545	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694184	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs488440	0.91[EUR][1000 genomes]
rs536541	0.92[EUR][1000 genomes]
rs565831	0.92[EUR][1000 genomes]
rs62312513	0.83[EUR][1000 genomes]
rs62312515	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6446983	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446984	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446985	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6811214	0.85[EUR][1000 genomes]
rs6814880	0.83[EUR][1000 genomes]
rs6819605	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6820992	0.83[EUR][1000 genomes]
rs6835734	0.82[EUR][1000 genomes]
rs6854203	0.84[EUR][1000 genomes]
rs6858809	0.82[EUR][1000 genomes]
rs7659389	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7665105	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7672588	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7676371	0.92[EUR][1000 genomes]
rs7678292	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7681137	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7681763	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7681912	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7683181	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9992393	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:42 , 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	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
4	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
6	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:75072200-75099200	Weak transcription	Ovary	ovary
10	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:75073800-75089400	Weak transcription	A549	lung
12	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
14	chr4:75074600-75091200	Weak transcription	Liver	Liver
15	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:75080800-75095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:75080800-75095400	Weak transcription	Fetal Thymus	thymus
19	chr4:75081000-75091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:75081200-75087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:75081200-75088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:75081400-75091000	Weak transcription	Left Ventricle	heart
23	chr4:75082600-75086400	Enhancers	Osteobl	bone
24	chr4:75084200-75096400	Weak transcription	GM12878-XiMat	blood
25	chr4:75085400-75086200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:75085400-75086200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:75085400-75089800	Weak transcription	HSMMtube	muscle
28	chr4:75085400-75102600	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:75085600-75086200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:75085600-75087800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:75085600-75088000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:75085600-75091000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:75085800-75086200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:75085800-75086200	Enhancers	NHDF-Ad	bronchial
35	chr4:75085800-75089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:75085800-75089800	Weak transcription	HMEC	breast
37	chr4:75085800-75089800	Weak transcription	HSMM	muscle
38	chr4:75085800-75094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:75086000-75086200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:75086000-75088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:75086000-75089400	Weak transcription	NHEK	skin
42	chr4:75086000-75096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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