Variant report

Variant	rs34505473
Chromosome Location	chr4:110393463-110393464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110354585..110356680-chr4:110392298..110394508,2	MCF-7	breast:
2	chr4:110384184..110389120-chr4:110389509..110396492,10	K562	blood:
3	chr4:110388654..110390254-chr4:110391943..110393915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138802	Chromatin interaction
ENSG00000247950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10000545	0.90[EUR][1000 genomes]
rs10002595	0.90[EUR][1000 genomes]
rs10155127	0.84[EUR][1000 genomes]
rs10516558	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11929713	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11930655	0.90[EUR][1000 genomes]
rs11933971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11941344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11942140	0.82[EUR][1000 genomes]
rs11942291	0.90[EUR][1000 genomes]
rs11942858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12640049	0.82[EUR][1000 genomes]
rs12643055	0.86[EUR][1000 genomes]
rs12648965	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13103034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13123618	0.90[EUR][1000 genomes]
rs13125368	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13128124	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13128221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13134239	0.84[EUR][1000 genomes]
rs13142698	0.88[EUR][1000 genomes]
rs13143825	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13145066	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1509314	0.90[EUR][1000 genomes]
rs1509315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17040436	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17040439	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17040461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17040488	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17040510	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28681408	0.86[EUR][1000 genomes]
rs34224638	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34377662	0.83[EUR][1000 genomes]
rs34441811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34482781	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34636377	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34836476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35110951	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35359830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35473144	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35594044	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35762958	0.83[EUR][1000 genomes]
rs35791246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35940980	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs36009064	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs36115572	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60957336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61004219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66642182	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66667140	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67473696	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68041341	0.85[EUR][1000 genomes]
rs6812469	0.84[EUR][1000 genomes]
rs6817954	0.90[EUR][1000 genomes]
rs6827006	0.84[EUR][1000 genomes]
rs6835683	0.88[EUR][1000 genomes]
rs6837199	0.87[EUR][1000 genomes]
rs6841198	0.86[EUR][1000 genomes]
rs6845371	0.86[EUR][1000 genomes]
rs6848452	0.86[EUR][1000 genomes]
rs6856291	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6856446	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71603033	0.90[EUR][1000 genomes]
rs71623653	0.81[AMR][1000 genomes]
rs72896632	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7436583	0.87[EUR][1000 genomes]
rs7440570	0.90[EUR][1000 genomes]
rs7675602	0.88[EUR][1000 genomes]
rs7679836	0.86[EUR][1000 genomes]
rs7680296	0.81[EUR][1000 genomes]
rs9985632	0.90[EUR][1000 genomes]
rs9994676	0.84[EUR][1000 genomes]
rs9994985	0.84[EUR][1000 genomes]
rs9999570	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110378800-110415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:110383400-110396000	Strong transcription	Fetal Thymus	thymus
4	chr4:110383400-110397600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:110384800-110399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:110384800-110401000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:110385400-110402800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:110385400-110403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:110385600-110415800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110385600-110415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:110385600-110415800	Weak transcription	Esophagus	oesophagus
12	chr4:110385800-110398200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:110385800-110415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:110385800-110415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:110385800-110415800	Weak transcription	Colonic Mucosa	Colon
16	chr4:110386000-110395200	Weak transcription	Fetal Kidney	kidney
17	chr4:110386000-110415800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:110386200-110415800	Weak transcription	Lung	lung
19	chr4:110386200-110415800	Weak transcription	Spleen	Spleen
20	chr4:110386400-110398400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:110386400-110413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:110386400-110415600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:110386400-110415800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:110386600-110396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:110386600-110402400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:110386600-110415600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:110386800-110394800	Weak transcription	Primary T cells from cord blood	blood
28	chr4:110386800-110398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:110386800-110402400	Weak transcription	Fetal Lung	lung
30	chr4:110386800-110405200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:110386800-110415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:110387000-110394200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:110387000-110394400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:110387000-110394800	Weak transcription	Fetal Intestine Large	intestine
35	chr4:110387000-110402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:110387000-110402200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:110387000-110402800	Weak transcription	Brain Angular Gyrus	brain
38	chr4:110387000-110415600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:110387000-110415800	Weak transcription	Fetal Brain Male	brain
40	chr4:110387000-110415800	Weak transcription	Fetal Brain Female	brain
41	chr4:110387000-110416400	Weak transcription	Right Ventricle	heart
42	chr4:110387200-110415600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:110387400-110394200	Weak transcription	GM12878-XiMat	blood
44	chr4:110387600-110415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:110388000-110403600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:110389200-110396600	Strong transcription	Dnd41	blood
47	chr4:110389200-110398000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:110389400-110398800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:110389400-110402200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:110389600-110394200	Weak transcription	Rectal Mucosa Donor 31	rectum

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