Variant report

Variant	rs71331753
Chromosome Location	chr3:134033068-134033069
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
2	chr3:134032429..134034030-chr3:134195239..134197108,2	MCF-7	breast:
3	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
4	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
5	chr3:134032463..134034261-chr3:134088924..134090604,2	K562	blood:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000214289	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11917363	0.95[EUR][1000 genomes]
rs11928672	0.95[EUR][1000 genomes]
rs11928907	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13069766	0.95[EUR][1000 genomes]
rs13085145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090504	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13097926	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34006849	0.97[EUR][1000 genomes]
rs34549392	0.95[EUR][1000 genomes]
rs35527623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35558600	0.97[EUR][1000 genomes]
rs35878592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234421	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002434	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5002435	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5002436	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5002437	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55682444	0.95[EUR][1000 genomes]
rs56019901	0.96[EUR][1000 genomes]
rs6772791	0.95[EUR][1000 genomes]
rs6809909	0.95[EUR][1000 genomes]
rs71331755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7609766	0.95[EUR][1000 genomes]
rs7613323	0.96[EUR][1000 genomes]
rs7613440	0.95[EUR][1000 genomes]
rs7613450	0.95[EUR][1000 genomes]
rs7614069	0.95[EUR][1000 genomes]
rs7636249	0.95[EUR][1000 genomes]
rs7637889	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638751	0.96[EUR][1000 genomes]
rs7639784	1.00[ASN][1000 genomes]
rs7642519	0.96[EUR][1000 genomes]
rs7647682	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647778	0.95[EUR][1000 genomes]
rs9826364	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827007	0.82[EUR][1000 genomes];1.00[ASN][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134026800-134034800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:134030000-134037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:134030200-134034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:134030800-134035000	Enhancers	Spleen	Spleen
5	chr3:134031600-134033800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:134032000-134033800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:134032200-134034200	Flanking Active TSS	Osteobl	bone
8	chr3:134032400-134033200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:134032400-134033200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:134032400-134033200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr3:134032400-134033200	Flanking Active TSS	Fetal Heart	heart
12	chr3:134032400-134033200	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr3:134032400-134033200	Flanking Active TSS	HSMMtube	muscle
14	chr3:134032400-134033400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:134032400-134033400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr3:134032400-134033400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:134032400-134033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:134032400-134033400	Flanking Active TSS	NHEK	skin
19	chr3:134032400-134033600	Flanking Active TSS	Liver	Liver
20	chr3:134032400-134033600	Flanking Active TSS	NHDF-Ad	bronchial
21	chr3:134032400-134033600	Flanking Active TSS	NHLF	lung
22	chr3:134032400-134034000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:134032400-134034200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:134032400-134034200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr3:134032600-134033200	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:134032600-134033200	Flanking Active TSS	HepG2	liver
27	chr3:134032600-134033400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:134032600-134033800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:134032600-134034200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:134032800-134033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:134032800-134033200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr3:134032800-134033200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr3:134032800-134033200	Flanking Active TSS	Right Ventricle	heart
34	chr3:134032800-134033400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:134032800-134033400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:134032800-134033600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:134032800-134033800	Enhancers	Fetal Lung	lung
38	chr3:134032800-134034000	Enhancers	Brain Angular Gyrus	brain
39	chr3:134032800-134034000	Enhancers	Gastric	stomach
40	chr3:134032800-134034200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr3:134032800-134034200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr3:134032800-134034200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr3:134032800-134034200	Flanking Active TSS	A549	lung
44	chr3:134032800-134034400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:134032800-134034600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:134032800-134034800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr3:134032800-134034800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:134032800-134034800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:134032800-134034800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:134032800-134034800	Enhancers	Brain Substantia Nigra	brain

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