Variant report

Variant	rs73751307
Chromosome Location	chr5:14241555-14241556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14240499..14242418-chr5:14249798..14252534,2	K562	blood:
2	chr5:14239498..14242139-chr5:14245502..14247917,2	MCF-7	breast:
3	chr5:14239610..14242408-chr5:14243298..14244929,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903399	0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs55750919	0.83[AMR][1000 genomes]
rs55754427	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55773296	0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][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]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.83[AMR][1000 genomes]
rs58443103	0.83[AMR][1000 genomes]
rs58897996	0.83[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.83[AMR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs73748806	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]
rs73751322	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751323	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751329	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751337	0.83[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:6 , 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	nsv4724	chr5:14225543-14243167	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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	chr5:14234600-14242600	Weak transcription	Lung	lung
5	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
6	chr5:14237400-14242200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:14237800-14242600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:14237800-14244000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:14237800-14246600	Weak transcription	Pancreas	Pancrea
10	chr5:14238000-14241600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:14238000-14250000	Weak transcription	HepG2	liver
12	chr5:14238000-14252400	Weak transcription	NHEK	skin
13	chr5:14238400-14246800	Weak transcription	Hela-S3	cervix
14	chr5:14238400-14249400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:14238400-14249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:14238600-14242000	Weak transcription	Psoas Muscle	Psoas
17	chr5:14238600-14242800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:14238600-14243000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:14238600-14243000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:14238600-14244000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:14238600-14244000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:14238600-14244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:14238600-14244000	Weak transcription	Thymus	Thymus
24	chr5:14238600-14247000	Weak transcription	HMEC	breast
25	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:14238800-14242200	Weak transcription	Left Ventricle	heart
27	chr5:14238800-14242600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:14238800-14243000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:14238800-14243000	Weak transcription	Spleen	Spleen
30	chr5:14238800-14243200	Weak transcription	Fetal Thymus	thymus
31	chr5:14238800-14244800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:14239400-14242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:14239800-14242600	Weak transcription	Right Ventricle	heart
34	chr5:14239800-14242800	Enhancers	Brain Germinal Matrix	brain
35	chr5:14239800-14244800	Weak transcription	Gastric	stomach
36	chr5:14240000-14242200	Weak transcription	Ovary	ovary
37	chr5:14240000-14242400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:14240000-14243000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:14240000-14244000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:14240000-14244800	Enhancers	HSMMtube	muscle
41	chr5:14240000-14247000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:14240000-14249000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:14240200-14242000	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:14240200-14242000	Weak transcription	Small Intestine	intestine
45	chr5:14240200-14248600	Weak transcription	Aorta	Aorta
46	chr5:14240400-14243400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:14240400-14246200	Weak transcription	Primary B cells from cord blood	blood
48	chr5:14240600-14241600	Enhancers	NHDF-Ad	bronchial
49	chr5:14240600-14242600	Weak transcription	Fetal Brain Female	brain
50	chr5:14240600-14243000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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