Variant report

Variant	rs34057511
Chromosome Location	chr4:119739358-119739359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119733532..119736191-chr4:119736876..119739551,2	K562	blood:
2	chr4:119737879..119739505-chr4:119745855..119747438,2	K562	blood:
3	chr4:119737903..119740730-chr4:119756784..119758412,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1019696	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098459	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11098460	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12512594	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12643205	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13112913	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13139244	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365549	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365550	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1365551	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1962840	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2114461	0.81[ASN][1000 genomes]
rs2303512	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2389688	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35934778	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36096663	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775839	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833592	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833593	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4834704	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4834705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834706	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6811006	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817084	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7375858	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain
6	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:119718600-119744200	Weak transcription	Hela-S3	cervix
8	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
9	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
10	chr4:119724000-119748200	Weak transcription	Psoas Muscle	Psoas
11	chr4:119726200-119740000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:119727000-119744000	Weak transcription	Stomach Mucosa	stomach
13	chr4:119732000-119748000	Weak transcription	Right Atrium	heart
14	chr4:119732000-119755800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:119733400-119740000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:119733400-119740400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:119733400-119753200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:119734400-119748200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:119734800-119755800	Weak transcription	Thymus	Thymus
20	chr4:119735400-119748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:119735600-119748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:119735600-119748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:119735600-119756000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:119735600-119756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:119735800-119751400	Weak transcription	Fetal Brain Female	brain
26	chr4:119736200-119744400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:119736200-119748000	Weak transcription	K562	blood
28	chr4:119736400-119744400	Weak transcription	Right Ventricle	heart
29	chr4:119736400-119748200	Weak transcription	A549	lung
30	chr4:119736400-119756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:119736800-119742800	Weak transcription	Fetal Thymus	thymus
32	chr4:119736800-119743000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:119736800-119744200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:119736800-119744200	Weak transcription	Small Intestine	intestine
35	chr4:119736800-119744800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr4:119736800-119746800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:119736800-119753000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:119736800-119755800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:119736800-119756200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:119736800-119756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:119736800-119756200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:119737000-119740000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:119737000-119742800	Weak transcription	Esophagus	oesophagus
44	chr4:119737000-119742800	Weak transcription	Gastric	stomach
45	chr4:119737000-119742800	Weak transcription	Left Ventricle	heart
46	chr4:119737000-119742800	Weak transcription	Lung	lung
47	chr4:119737000-119742800	Weak transcription	Spleen	Spleen
48	chr4:119737000-119743000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:119737000-119743200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:119737000-119744000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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