Variant report

Variant	rs3763594
Chromosome Location	chr8:126080235-126080236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126040564..126044371-chr8:126078561..126080498,4	MCF-7	breast:
2	chr8:126068016..126070699-chr8:126079052..126080683,2	MCF-7	breast:
3	chr8:126079990..126082331-chr8:126093213..126095389,2	MCF-7	breast:
4	chr8:125550417..125552923-chr8:126078909..126083694,4	MCF-7	breast:
5	chr8:126078297..126084956-chr8:126098763..126105761,10	MCF-7	breast:
6	chr8:126069666..126072229-chr8:126079747..126081387,2	K562	blood:
7	chr8:126079813..126082557-chr8:126108973..126111318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1004350	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1004676	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089455	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089574	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089792	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092363	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095627	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105624	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113495	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505449	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505450	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505451	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985488	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985490	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985491	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985518	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11986264	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986339	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988640	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989471	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989475	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993043	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993478	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993484	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993487	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996035	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996796	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996868	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900250	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900266	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900269	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900364	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900368	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900369	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1802526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009959	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272682	1.00[ASN][1000 genomes]
rs2293985	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303521	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303524	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303526	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303527	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303528	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303529	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303530	1.00[ASN][1000 genomes]
rs2384917	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28386832	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394364	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28447527	0.85[ASN][1000 genomes]
rs28453073	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465401	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498361	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28546275	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610111	0.94[ASN][1000 genomes]
rs28612575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28624116	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28633402	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28653090	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28685667	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28702720	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714511	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891636	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891655	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736666	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763595	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765213	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765214	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793445	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793446	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3815873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860841	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421364	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421365	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425776	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458896	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570178	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570179	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162779	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57431630	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57701401	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61506267	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470329	1.00[ASN][1000 genomes]
rs6470330	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470331	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470332	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470333	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470334	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470335	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651231	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651232	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980470	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981141	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981156	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981164	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981781	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982708	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002684	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002783	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72497351	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73704517	1.00[ASN][1000 genomes]
rs7465254	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812319	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813244	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817303	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831848	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832481	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9297710	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693702	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792114	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
13	chr8:126043000-126084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:126043000-126096000	Strong transcription	Liver	Liver
15	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
16	chr8:126043800-126082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126045600-126095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:126046200-126081800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:126050200-126089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:126052400-126080600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:126055800-126088600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:126058000-126082000	Weak transcription	Fetal Heart	heart
26	chr8:126059600-126080600	Weak transcription	Stomach Mucosa	stomach
27	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:126066000-126082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:126066600-126083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
31	chr8:126066800-126081600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:126068800-126082000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:126069000-126080400	Weak transcription	Fetal Brain Male	brain
34	chr8:126069000-126080600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:126070000-126081200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:126070800-126080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:126070800-126082400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:126072200-126085600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:126072800-126095600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:126073000-126095200	Strong transcription	Adipose Nuclei	Adipose
42	chr8:126073000-126095800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:126073200-126082000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:126073200-126082400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr8:126073200-126084200	Strong transcription	Thymus	Thymus
46	chr8:126073200-126086200	Strong transcription	Fetal Muscle Leg	muscle
47	chr8:126073200-126087400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr8:126073200-126095000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:126073200-126095600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:126073200-126098200	Strong transcription	Primary hematopoietic stem cells	blood

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