Variant report

Variant	rs61792472
Chromosome Location	chr4:3082861-3082862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3081705..3083285-chr4:3084073..3086877,2	K562	blood:
2	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
3	chr4:3080079..3082972-chr4:3083884..3086818,3	MCF-7	breast:
4	chr4:3082361..3085504-chr4:3087676..3091805,3	K562	blood:
5	chr4:3081667..3084518-chr4:3085377..3088342,3	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10021254	1.00[ASN][1000 genomes]
rs10034669	1.00[ASN][1000 genomes]
rs10155264	1.00[ASN][1000 genomes]
rs10488840	1.00[ASN][1000 genomes]
rs1065745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843803	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843824	1.00[EUR][1000 genomes]
rs16844026	1.00[ASN][1000 genomes]
rs16844028	1.00[ASN][1000 genomes]
rs17780617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003530	1.00[ASN][1000 genomes]
rs28436280	1.00[ASN][1000 genomes]
rs28507598	1.00[ASN][1000 genomes]
rs28643391	1.00[ASN][1000 genomes]
rs3025825	1.00[ASN][1000 genomes]
rs3025849	1.00[EUR][1000 genomes]
rs3025851	1.00[EUR][1000 genomes]
rs34045730	1.00[ASN][1000 genomes]
rs34591077	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362269	1.00[ASN][1000 genomes]
rs362278	1.00[ASN][1000 genomes]
rs362303	1.00[ASN][1000 genomes]
rs362304	1.00[ASN][1000 genomes]
rs362305	1.00[ASN][1000 genomes]
rs362310	1.00[ASN][1000 genomes]
rs362323	1.00[ASN][1000 genomes]
rs362325	1.00[ASN][1000 genomes]
rs363065	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363067	1.00[EUR][1000 genomes]
rs363068	1.00[EUR][1000 genomes]
rs363069	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363074	1.00[EUR][1000 genomes]
rs363078	1.00[ASN][1000 genomes]
rs363084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363089	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363094	1.00[ASN][1000 genomes]
rs363095	1.00[ASN][1000 genomes]
rs363103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363104	0.84[EUR][1000 genomes]
rs363105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363128	1.00[ASN][1000 genomes]
rs56794194	1.00[ASN][1000 genomes]
rs57196404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59588638	1.00[ASN][1000 genomes]
rs61460614	1.00[ASN][1000 genomes]
rs61583241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790489	1.00[ASN][1000 genomes]
rs61790490	1.00[ASN][1000 genomes]
rs61792477	1.00[ASN][1000 genomes]
rs61792500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792503	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792505	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792507	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792508	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792510	1.00[ASN][1000 genomes]
rs61792512	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792515	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440822	0.90[AFR][1000 genomes]
rs7674122	1.00[ASN][1000 genomes]
rs7683309	1.00[ASN][1000 genomes]
rs7686771	1.00[ASN][1000 genomes]
rs7692292	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7699037	1.00[ASN][1000 genomes]
rs9993781	1.00[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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3077400-3093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:3077800-3084400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:3077800-3089000	Weak transcription	Aorta	Aorta
4	chr4:3077800-3096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3078000-3083400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:3078000-3084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:3078000-3086200	Weak transcription	Placenta	Placenta
8	chr4:3078000-3086800	Weak transcription	Pancreas	Pancrea
9	chr4:3078000-3088000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:3078000-3088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:3078000-3088600	Weak transcription	Lung	lung
12	chr4:3078000-3088800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:3078000-3088800	Weak transcription	Thymus	Thymus
14	chr4:3078000-3094600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:3078000-3094600	Weak transcription	Esophagus	oesophagus
16	chr4:3078000-3097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:3078000-3097600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:3078000-3101000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:3078000-3103000	Weak transcription	Colonic Mucosa	Colon
20	chr4:3078200-3089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:3078200-3089000	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:3078200-3094600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:3078200-3101000	Weak transcription	Brain Substantia Nigra	brain
24	chr4:3078200-3109800	Weak transcription	Stomach Mucosa	stomach
25	chr4:3078400-3085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:3078400-3086800	Weak transcription	NHEK	skin
27	chr4:3078400-3091600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:3078400-3093200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:3078400-3094600	Weak transcription	A549	lung
30	chr4:3078400-3097000	Weak transcription	Brain Anterior Caudate	brain
31	chr4:3078400-3102200	Weak transcription	Hela-S3	cervix
32	chr4:3078400-3107000	Weak transcription	HMEC	breast
33	chr4:3078600-3084200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:3078600-3085400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:3078600-3085800	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:3078600-3086600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:3078600-3088200	Weak transcription	Fetal Stomach	stomach
38	chr4:3078600-3088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:3078600-3088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:3078600-3088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:3078600-3088600	Weak transcription	NH-A	brain
42	chr4:3078600-3088600	Weak transcription	Osteobl	bone
43	chr4:3078600-3088800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:3078600-3088800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:3078600-3088800	Weak transcription	Adipose Nuclei	Adipose
46	chr4:3078600-3088800	Weak transcription	HUVEC	blood vessel
47	chr4:3078600-3089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:3078600-3089000	Weak transcription	Fetal Lung	lung
49	chr4:3078600-3090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:3078600-3090200	Weak transcription	HSMM	muscle

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