Variant report

Variant	rs34549392
Chromosome Location	chr3:134045648-134045649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134044455..134047309-chr3:134153979..134155678,2	MCF-7	breast:
2	chr17:57924403..57926860-chr3:134044708..134047520,2	MCF-7	breast:
3	chr3:134025978..134037323-chr3:134040972..134053086,34	MCF-7	breast:
4	chr3:134043979..134045775-chr3:134201828..134204069,2	MCF-7	breast:
5	chr3:134044663..134046973-chr3:134204109..134206927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201524	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000129055	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11707704	1.00[ASN][1000 genomes]
rs11917363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919447	1.00[ASN][1000 genomes]
rs11923513	1.00[ASN][1000 genomes]
rs11928672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928907	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071132	1.00[ASN][1000 genomes]
rs13084853	1.00[ASN][1000 genomes]
rs13085145	0.95[EUR][1000 genomes]
rs13090504	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097926	0.94[EUR][1000 genomes]
rs1498730	1.00[ASN][1000 genomes]
rs17312996	1.00[ASN][1000 genomes]
rs17313003	1.00[ASN][1000 genomes]
rs34006849	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34524468	1.00[ASN][1000 genomes]
rs35098409	1.00[ASN][1000 genomes]
rs35471660	1.00[ASN][1000 genomes]
rs35527623	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558600	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35878592	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846052	1.00[ASN][1000 genomes]
rs3913262	1.00[ASN][1000 genomes]
rs4234421	0.81[EUR][1000 genomes]
rs4339087	1.00[ASN][1000 genomes]
rs5002434	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002435	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002436	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002437	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682444	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019901	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59458665	1.00[ASN][1000 genomes]
rs61145443	1.00[ASN][1000 genomes]
rs62271221	1.00[ASN][1000 genomes]
rs6439474	1.00[ASN][1000 genomes]
rs6439476	1.00[ASN][1000 genomes]
rs6768709	1.00[ASN][1000 genomes]
rs6772791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776727	1.00[ASN][1000 genomes]
rs6804439	1.00[ASN][1000 genomes]
rs6809909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71331753	0.95[EUR][1000 genomes]
rs71331755	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986454	1.00[ASN][1000 genomes]
rs73215399	1.00[ASN][1000 genomes]
rs7609766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613323	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613450	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637889	0.81[EUR][1000 genomes]
rs7638751	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642519	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651578	1.00[ASN][1000 genomes]
rs9826364	0.82[EUR][1000 genomes]
rs9827007	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134034600-134046200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:134035000-134058800	Weak transcription	Liver	Liver
3	chr3:134036600-134050600	Weak transcription	Fetal Brain Female	brain
4	chr3:134041200-134046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:134041200-134056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:134041600-134047400	Enhancers	Pancreas	Pancrea
7	chr3:134042000-134060800	Enhancers	Placenta	Placenta
8	chr3:134042200-134050600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:134042200-134052400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:134042600-134046000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:134042600-134046600	Enhancers	Spleen	Spleen
12	chr3:134042600-134054000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:134042600-134054400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:134042800-134046000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:134042800-134046000	Enhancers	Osteobl	bone
16	chr3:134042800-134057000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:134043000-134046200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:134043200-134046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:134043200-134046000	Enhancers	NHDF-Ad	bronchial
20	chr3:134043200-134046200	Enhancers	NHLF	lung
21	chr3:134043200-134046800	Enhancers	Lung	lung
22	chr3:134043200-134047600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:134043400-134046000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:134043400-134046000	Enhancers	HMEC	breast
25	chr3:134043400-134046000	Enhancers	HSMM	muscle
26	chr3:134043400-134046200	Enhancers	HSMMtube	muscle
27	chr3:134043600-134046200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:134044000-134046200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:134044000-134047200	Enhancers	Fetal Heart	heart
30	chr3:134044000-134054400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:134044200-134045800	Enhancers	Hela-S3	cervix
32	chr3:134044200-134046000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:134044200-134046800	Enhancers	Left Ventricle	heart
34	chr3:134044200-134046800	Enhancers	Right Ventricle	heart
35	chr3:134044200-134047000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr3:134044200-134047000	Enhancers	Right Atrium	heart
37	chr3:134044200-134047400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:134044200-134047400	Enhancers	Fetal Muscle Leg	muscle
39	chr3:134044200-134047400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr3:134044200-134047600	Enhancers	Esophagus	oesophagus
41	chr3:134044200-134047800	Enhancers	HepG2	liver
42	chr3:134044400-134047400	Enhancers	Colon Smooth Muscle	Colon
43	chr3:134044600-134046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:134044600-134046000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:134044600-134046600	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:134044600-134047400	Enhancers	Fetal Muscle Trunk	muscle
47	chr3:134044600-134047600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:134044600-134047600	Enhancers	HUVEC	blood vessel
49	chr3:134044800-134046400	Enhancers	Fetal Stomach	stomach
50	chr3:134044800-134046400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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