Variant report

Variant	rs354280
Chromosome Location	chr5:14240739-14240740
allele	C/G
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	chr5:14143133..14145479-chr5:14237806..14241154,4	MCF-7	breast:
3	chr5:14239498..14242139-chr5:14245502..14247917,2	MCF-7	breast:
4	chr5:14238485..14241035-chr5:14265096..14266696,2	MCF-7	breast:
5	chr5:14238457..14240756-chr5:14270238..14271962,2	MCF-7	breast:
6	chr5:14239610..14242408-chr5:14243298..14244929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513170	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs164007	0.82[CEU][hapmap]
rs26116	1.00[CEU][hapmap]
rs26117	1.00[CEU][hapmap]
rs26118	1.00[CEU][hapmap]
rs26130	1.00[CEU][hapmap]
rs26131	1.00[CEU][hapmap]
rs56164834	0.96[EUR][1000 genomes]
rs57155535	0.96[EUR][1000 genomes]
rs59787628	0.94[EUR][1000 genomes]
rs59963672	0.96[EUR][1000 genomes]
rs6886439	0.96[EUR][1000 genomes]
rs6890768	0.96[EUR][1000 genomes]
rs73751319	0.91[EUR][1000 genomes]
rs73751321	0.96[EUR][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:94 , 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	chr5:14236400-14240800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:14236400-14240800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:14236400-14240800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:14236400-14241000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:14236600-14241000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:14236800-14241000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:14236800-14241200	Enhancers	Fetal Brain Male	brain
13	chr5:14237000-14241000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:14237200-14240800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:14237200-14240800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:14237400-14242200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:14237800-14241000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:14237800-14241200	Weak transcription	Brain Angular Gyrus	brain
19	chr5:14237800-14241200	Enhancers	A549	lung
20	chr5:14237800-14242600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:14237800-14244000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:14237800-14246600	Weak transcription	Pancreas	Pancrea
23	chr5:14238000-14241000	Enhancers	NH-A	brain
24	chr5:14238000-14241600	Enhancers	Colon Smooth Muscle	Colon
25	chr5:14238000-14250000	Weak transcription	HepG2	liver
26	chr5:14238000-14252400	Weak transcription	NHEK	skin
27	chr5:14238400-14246800	Weak transcription	Hela-S3	cervix
28	chr5:14238400-14249400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:14238400-14249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:14238600-14240800	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:14238600-14241400	Weak transcription	Fetal Heart	heart
32	chr5:14238600-14242000	Weak transcription	Psoas Muscle	Psoas
33	chr5:14238600-14242800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:14238600-14243000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:14238600-14243000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:14238600-14244000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:14238600-14244000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:14238600-14244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:14238600-14244000	Weak transcription	Thymus	Thymus
40	chr5:14238600-14247000	Weak transcription	HMEC	breast
41	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:14238800-14241000	Genic enhancers	HSMM	muscle
43	chr5:14238800-14242200	Weak transcription	Left Ventricle	heart
44	chr5:14238800-14242600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:14238800-14243000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:14238800-14243000	Weak transcription	Spleen	Spleen
47	chr5:14238800-14243200	Weak transcription	Fetal Thymus	thymus
48	chr5:14238800-14244800	Weak transcription	Brain Anterior Caudate	brain
49	chr5:14239000-14240800	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:14239000-14241000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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