Variant report

Variant	rs56008240
Chromosome Location	chr3:111794486-111794487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111792644..111794499-chr3:111797268..111798908,2	K562	blood:
2	chr3:111792824..111796051-chr3:111796443..111799498,4	MCF-7	breast:
3	chr3:111792657..111794523-chr3:111799735..111802519,2	MCF-7	breast:
4	chr3:111792401..111798775-chr3:111803596..111811380,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs16859128	1.00[EUR][1000 genomes]
rs16859129	1.00[EUR][1000 genomes]
rs16859130	1.00[EUR][1000 genomes]
rs16859132	1.00[EUR][1000 genomes]
rs55715811	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55753652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55765202	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55785728	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913382	1.00[EUR][1000 genomes]
rs55955608	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968036	1.00[EUR][1000 genomes]
rs56060014	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56115505	1.00[EUR][1000 genomes]
rs56127415	1.00[EUR][1000 genomes]
rs56154908	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56173481	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56188318	0.84[AFR][1000 genomes]
rs56200934	1.00[EUR][1000 genomes]
rs56235140	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56238410	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56404440	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56801397	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57441805	1.00[EUR][1000 genomes]
rs57606311	1.00[EUR][1000 genomes]
rs57621014	1.00[EUR][1000 genomes]
rs57643560	1.00[EUR][1000 genomes]
rs57851365	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58430773	1.00[EUR][1000 genomes]
rs58489543	1.00[EUR][1000 genomes]
rs58766302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58840068	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58899626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59888587	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60011279	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60031977	1.00[EUR][1000 genomes]
rs60032749	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100513	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60361907	1.00[EUR][1000 genomes]
rs60504992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60529752	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60562037	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60596183	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60746737	1.00[EUR][1000 genomes]
rs61233651	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61250978	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61574805	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6438029	1.00[EUR][1000 genomes]
rs6438030	1.00[EUR][1000 genomes]
rs6438036	1.00[EUR][1000 genomes]
rs6765246	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6765524	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6768781	1.00[EUR][1000 genomes]
rs6769390	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6769595	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6771394	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6771530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6776494	1.00[EUR][1000 genomes]
rs6779013	1.00[EUR][1000 genomes]
rs6785852	1.00[EUR][1000 genomes]
rs6787297	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6794018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6794057	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6794944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806972	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809741	1.00[EUR][1000 genomes]
rs73853296	1.00[EUR][1000 genomes]
rs73853298	1.00[EUR][1000 genomes]
rs73853300	1.00[EUR][1000 genomes]
rs73853302	1.00[EUR][1000 genomes]
rs73853307	1.00[EUR][1000 genomes]
rs73853320	1.00[EUR][1000 genomes]
rs73853321	1.00[EUR][1000 genomes]
rs73853325	1.00[EUR][1000 genomes]
rs73853326	1.00[EUR][1000 genomes]
rs73853328	1.00[EUR][1000 genomes]
rs73853364	1.00[EUR][1000 genomes]
rs73853368	1.00[EUR][1000 genomes]
rs73853377	1.00[EUR][1000 genomes]
rs73856303	1.00[EUR][1000 genomes]
rs73856304	1.00[EUR][1000 genomes]
rs73856305	1.00[EUR][1000 genomes]
rs73856331	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856333	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856334	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856335	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856336	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856337	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856338	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856340	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856342	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856343	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856344	1.00[EUR][1000 genomes]
rs73856345	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856346	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856347	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73856349	1.00[EUR][1000 genomes]
rs73856351	1.00[EUR][1000 genomes]
rs73856352	1.00[EUR][1000 genomes]
rs73856353	1.00[EUR][1000 genomes]
rs73856356	1.00[EUR][1000 genomes]
rs73856357	1.00[EUR][1000 genomes]
rs73856358	1.00[EUR][1000 genomes]
rs73856362	1.00[EUR][1000 genomes]
rs73856369	1.00[EUR][1000 genomes]
rs7620996	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7621597	1.00[EUR][1000 genomes]
rs7627472	1.00[EUR][1000 genomes]
rs7631233	1.00[EUR][1000 genomes]
rs7648969	1.00[EUR][1000 genomes]
rs9755693	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9755713	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9755719	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9756558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9756806	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111791600-111796600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr3:111791800-111794600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr3:111792400-111794800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:111792600-111794600	Flanking Active TSS	Osteobl	bone
5	chr3:111792600-111795200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:111792800-111794600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:111792800-111794600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:111792800-111794600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:111792800-111794600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr3:111792800-111794800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:111792800-111794800	Enhancers	HUVEC	blood vessel
12	chr3:111793200-111794600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:111793200-111794600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:111793200-111795000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:111793200-111795400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:111793400-111794600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:111793600-111794600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:111793600-111794600	Flanking Active TSS	Thymus	Thymus
19	chr3:111793600-111794600	Flanking Active TSS	A549	lung
20	chr3:111793600-111796000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:111793800-111794600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:111793800-111794600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:111793800-111794600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:111793800-111794600	Flanking Active TSS	Hela-S3	cervix
25	chr3:111793800-111794800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr3:111793800-111794800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:111794000-111794600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:111794000-111794600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:111794000-111794600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:111794000-111794600	Flanking Active TSS	Fetal Thymus	thymus
31	chr3:111794000-111794600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:111794000-111795200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:111794200-111794600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:111794200-111794600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:111794200-111794600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:111794200-111794600	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr3:111794200-111794600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr3:111794200-111794600	Flanking Active TSS	Stomach Mucosa	stomach
39	chr3:111794200-111794600	Flanking Active TSS	HMEC	breast
40	chr3:111794200-111794600	Flanking Active TSS	NH-A	brain
41	chr3:111794200-111794600	Flanking Active TSS	NHEK	skin
42	chr3:111794200-111794800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:111794200-111794800	Enhancers	Placenta	Placenta
44	chr3:111794400-111794600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:111794400-111794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:111794400-111794600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:111794400-111794600	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:111794400-111794600	Enhancers	Dnd41	blood
49	chr3:111794400-111794600	Enhancers	HepG2	liver
50	chr3:111794400-111794600	Enhancers	HSMM	muscle

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