Variant report

Variant	rs2611754
Chromosome Location	chr4:75087845-75087846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10006685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10014791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10015148	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246583	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1542468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850833	1.00[JPT][hapmap]
rs16850864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16850866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16850885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16850898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850903	0.95[ASN][1000 genomes]
rs16850918	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28382340	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28417935	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28423375	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28434222	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28462312	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28588511	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28663170	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28721942	0.81[EUR][1000 genomes]
rs28788278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492042	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56667969	0.95[ASN][1000 genomes]
rs572987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6845763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7656041	0.95[ASN][1000 genomes]
rs7656313	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7665228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7670644	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689369	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7694828	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9683437	0.95[ASN][1000 genomes]
rs9884572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9884653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9992624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9993008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][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	chr4:75067800-75097000	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	chr4:75081200-75088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:75081400-75091000	Weak transcription	Left Ventricle	heart
21	chr4:75084200-75096400	Weak transcription	GM12878-XiMat	blood
22	chr4:75085400-75089800	Weak transcription	HSMMtube	muscle
23	chr4:75085400-75102600	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:75085600-75088000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:75085600-75091000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:75085800-75089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:75085800-75089800	Weak transcription	HMEC	breast
28	chr4:75085800-75089800	Weak transcription	HSMM	muscle
29	chr4:75085800-75094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:75086000-75088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:75086000-75089400	Weak transcription	NHEK	skin
32	chr4:75086000-75096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:75086200-75088600	Weak transcription	NHDF-Ad	bronchial
34	chr4:75086200-75089200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:75086200-75089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:75086200-75089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:75086200-75117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:75086400-75088000	Weak transcription	Osteobl	bone
39	chr4:75086400-75088800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:75087200-75089600	Weak transcription	Hela-S3	cervix
41	chr4:75087800-75088200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:75087800-75088400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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