Variant report

Variant	rs556928
Chromosome Location	chr5:14230281-14230282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14228783..14230881-chr5:14236364..14239220,3	MCF-7	breast:
2	chr5:14224670..14226292-chr5:14228930..14231358,2	MCF-7	breast:
3	chr5:14143345..14145815-chr5:14228476..14230365,2	MCF-7	breast:
4	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:
5	chr5:14145841..14148569-chr5:14229564..14231380,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11133784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11743665	0.90[JPT][hapmap]
rs12522960	0.85[ASN][1000 genomes]
rs149123	0.84[ASN][1000 genomes]
rs151899	0.87[CHB][hapmap]
rs151900	0.84[ASN][1000 genomes]
rs154150	0.81[JPT][hapmap]
rs164629	0.92[CHB][hapmap]
rs164862	0.82[JPT][hapmap]
rs164863	0.81[JPT][hapmap]
rs165095	0.86[JPT][hapmap]
rs245445	0.85[ASN][1000 genomes]
rs248899	0.81[ASN][1000 genomes]
rs26280	0.82[CHB][hapmap]
rs26281	0.91[CHB][hapmap]
rs30629	0.81[JPT][hapmap]
rs30631	0.82[JPT][hapmap]
rs32392	0.81[ASN][1000 genomes]
rs32549	0.87[CHB][hapmap]
rs354286	0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4701604	0.87[ASN][1000 genomes]
rs506330	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs544588	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs58185757	0.92[ASN][1000 genomes]
rs706278	0.92[ASN][1000 genomes]
rs72744212	0.95[ASN][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	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:14219800-14231000	Weak transcription	HMEC	breast
3	chr5:14219800-14231200	Weak transcription	Fetal Stomach	stomach
4	chr5:14221800-14230800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:14221800-14231400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
7	chr5:14223800-14230400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:14223800-14237600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:14224000-14231400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:14224000-14237400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:14224000-14239600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:14225000-14237600	Genic enhancers	HSMM	muscle
13	chr5:14225400-14230600	Enhancers	Ovary	ovary
14	chr5:14226000-14230800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:14226200-14231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:14226200-14237800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:14226400-14230400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
19	chr5:14226600-14246800	Weak transcription	Fetal Intestine Small	intestine
20	chr5:14226800-14231200	Enhancers	Fetal Heart	heart
21	chr5:14227000-14237400	Weak transcription	Spleen	Spleen
22	chr5:14227200-14237400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:14227400-14231000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:14227400-14231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14227400-14231600	Weak transcription	Lung	lung
26	chr5:14227400-14231800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:14227400-14231800	Enhancers	HSMMtube	muscle
28	chr5:14227400-14232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:14227400-14232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:14227400-14237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:14227600-14231600	Weak transcription	Pancreas	Pancrea
32	chr5:14227600-14239000	Weak transcription	Gastric	stomach
33	chr5:14228600-14230600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:14228600-14231000	Weak transcription	A549	lung
35	chr5:14228600-14231200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:14228600-14237400	Weak transcription	Hela-S3	cervix
37	chr5:14228800-14230400	Weak transcription	NHLF	lung
38	chr5:14228800-14231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:14228800-14231600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:14228800-14232000	Enhancers	Colon Smooth Muscle	Colon
41	chr5:14228800-14233000	Weak transcription	Placenta	Placenta
42	chr5:14228800-14233600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:14228800-14233800	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:14229000-14237600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:14229200-14230600	Enhancers	Fetal Thymus	thymus
46	chr5:14229400-14230600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:14229400-14230600	Enhancers	Left Ventricle	heart
48	chr5:14229400-14230600	Enhancers	Psoas Muscle	Psoas
49	chr5:14229400-14231400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:14229400-14231400	Enhancers	HepG2	liver

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