Variant report

Variant	rs4331945
Chromosome Location	chr5:111563190-111563191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111562024..111564609-chr5:133861458..133863356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000043143	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10044033	0.81[AFR][1000 genomes]
rs11948718	1.00[AMR][1000 genomes]
rs11952407	1.00[AMR][1000 genomes]
rs11954056	1.00[AMR][1000 genomes]
rs11954058	1.00[AMR][1000 genomes]
rs1427976	1.00[AMR][1000 genomes]
rs1427977	1.00[AMR][1000 genomes]
rs17134169	1.00[AMR][1000 genomes]
rs17134172	1.00[AMR][1000 genomes]
rs17134175	1.00[AMR][1000 genomes]
rs17134220	1.00[AMR][1000 genomes]
rs17134247	1.00[AMR][1000 genomes]
rs17134248	1.00[AMR][1000 genomes]
rs4279380	0.86[AFR][1000 genomes]
rs4354094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4355564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4604230	1.00[AMR][1000 genomes]
rs4958016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4998734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6594579	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111538600-111563600	Weak transcription	Lung	lung
3	chr5:111554200-111563600	Weak transcription	Left Ventricle	heart
4	chr5:111554200-111563600	Weak transcription	Right Ventricle	heart
5	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
6	chr5:111557000-111563600	Weak transcription	Stomach Mucosa	stomach
7	chr5:111558600-111563200	Weak transcription	Pancreas	Pancrea
8	chr5:111558600-111563400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
10	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:111559400-111564200	Weak transcription	Liver	Liver
12	chr5:111560200-111563600	Enhancers	Fetal Heart	heart
13	chr5:111561400-111564200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:111561400-111564400	Weak transcription	Spleen	Spleen
15	chr5:111562000-111564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:111562000-111564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:111562000-111564200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:111562200-111563400	Weak transcription	Fetal Lung	lung
19	chr5:111562200-111563400	Enhancers	A549	lung
20	chr5:111562200-111565200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:111562200-111566200	Weak transcription	Fetal Brain Male	brain
22	chr5:111562200-111570200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:111562200-111574400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:111562400-111563600	Enhancers	Hela-S3	cervix
25	chr5:111562400-111564200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:111562400-111564400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:111562400-111567800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:111562400-111570200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:111562400-111570800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:111562800-111564800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:111562800-111564800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:111562800-111565000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:111562800-111565000	Enhancers	HMEC	breast
34	chr5:111562800-111565200	Enhancers	NHEK	skin
35	chr5:111562800-111572000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:111562800-111573000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:111563000-111565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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