Variant report

Variant	rs73751311
Chromosome Location	chr5:14243755-14243756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14242795..14244443-chr5:14250391..14252433,2	MCF-7	breast:
2	chr5:14217173..14219209-chr5:14242160..14244276,2	MCF-7	breast:
3	chr5:14242667..14245241-chr5:14248940..14251910,2	K562	blood:
4	chr5:14239610..14242408-chr5:14243298..14244929,2	MCF-7	breast:
5	chr5:14190314..14192078-chr5:14242022..14244161,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903269	0.81[AFR][1000 genomes]
rs16903321	0.91[AFR][1000 genomes]
rs16903322	0.91[AFR][1000 genomes]
rs16903350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903376	0.89[AFR][1000 genomes]
rs16903399	0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs2015269	0.83[AMR][1000 genomes]
rs55750919	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55754427	0.83[AMR][1000 genomes]
rs55773296	0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][1000 genomes]
rs56140232	0.89[AFR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.83[AMR][1000 genomes]
rs56712870	0.83[AMR][1000 genomes]
rs57560019	0.83[AMR][1000 genomes]
rs57764801	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.83[AMR][1000 genomes]
rs58443103	0.83[AMR][1000 genomes]
rs58716074	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58897996	0.83[AMR][1000 genomes]
rs59499572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59619763	0.81[AFR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.83[AMR][1000 genomes]
rs61011080	0.89[AFR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs61509800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61665335	0.89[AFR][1000 genomes]
rs6868596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748685	0.81[AFR][1000 genomes]
rs73748687	0.83[AFR][1000 genomes]
rs73748688	0.81[AFR][1000 genomes]
rs73748806	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	0.83[AMR][1000 genomes]
rs73749082	0.83[AMR][1000 genomes]
rs73749083	0.83[AMR][1000 genomes]
rs73749085	0.83[AMR][1000 genomes]
rs73749234	0.83[AMR][1000 genomes]
rs73749235	0.83[AMR][1000 genomes]
rs73751318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751322	0.83[AMR][1000 genomes]
rs73751323	0.83[AMR][1000 genomes]
rs73751327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751329	0.83[AMR][1000 genomes]
rs73751335	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751337	0.83[AMR][1000 genomes]
rs73751338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751340	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751342	0.85[AMR][1000 genomes]
rs7703674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713114	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716460	0.83[AMR][1000 genomes]
rs7723309	0.83[AMR][1000 genomes]
rs7724084	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
2	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
3	chr5:14226600-14246800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
5	chr5:14237800-14244000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:14237800-14246600	Weak transcription	Pancreas	Pancrea
7	chr5:14238000-14250000	Weak transcription	HepG2	liver
8	chr5:14238000-14252400	Weak transcription	NHEK	skin
9	chr5:14238400-14246800	Weak transcription	Hela-S3	cervix
10	chr5:14238400-14249400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:14238400-14249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:14238600-14244000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:14238600-14244000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:14238600-14244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:14238600-14244000	Weak transcription	Thymus	Thymus
16	chr5:14238600-14247000	Weak transcription	HMEC	breast
17	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:14238800-14244800	Weak transcription	Brain Anterior Caudate	brain
19	chr5:14239800-14244800	Weak transcription	Gastric	stomach
20	chr5:14240000-14244000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:14240000-14244800	Enhancers	HSMMtube	muscle
22	chr5:14240000-14247000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:14240000-14249000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:14240200-14248600	Weak transcription	Aorta	Aorta
25	chr5:14240400-14246200	Weak transcription	Primary B cells from cord blood	blood
26	chr5:14240800-14244800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:14240800-14245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:14240800-14246400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:14240800-14247000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:14240800-14248800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:14240800-14249600	Weak transcription	Fetal Lung	lung
32	chr5:14241000-14244000	Weak transcription	GM12878-XiMat	blood
33	chr5:14241000-14244800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:14241000-14245000	Weak transcription	Osteobl	bone
35	chr5:14241200-14245000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:14241200-14249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:14241400-14244000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:14241600-14245200	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:14241600-14249000	Weak transcription	NHDF-Ad	bronchial
40	chr5:14241800-14246200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:14242000-14245000	Weak transcription	Brain Angular Gyrus	brain
42	chr5:14242000-14247400	Enhancers	Fetal Muscle Leg	muscle
43	chr5:14242000-14247400	Enhancers	Psoas Muscle	Psoas
44	chr5:14242200-14243800	Weak transcription	NHLF	lung
45	chr5:14242200-14244000	Weak transcription	Fetal Heart	heart
46	chr5:14242200-14245400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:14242200-14247400	Enhancers	Left Ventricle	heart
48	chr5:14242400-14244800	Genic enhancers	HSMM	muscle
49	chr5:14242600-14244200	Enhancers	Lung	lung
50	chr5:14242600-14245000	Enhancers	Fetal Brain Female	brain

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