Variant report

Variant	rs6594595
Chromosome Location	chr5:111742626-111742627
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	chr3:50187263..50189349-chr5:111741686..111743310,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs454794	1.00[CEU][hapmap];0.82[EUR][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	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
2	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
3	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
4	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
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111720400-111742800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:111730800-111742800	Weak transcription	Hela-S3	cervix
6	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
13	chr5:111740400-111751400	Weak transcription	Ovary	ovary
14	chr5:111741800-111743200	Enhancers	Adipose Nuclei	Adipose
15	chr5:111742200-111742800	Enhancers	Left Ventricle	heart
16	chr5:111742200-111743200	Enhancers	Right Atrium	heart
17	chr5:111742200-111743800	Enhancers	Fetal Lung	lung
18	chr5:111742400-111742800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:111742400-111742800	Enhancers	Gastric	stomach
20	chr5:111742400-111742800	Enhancers	Lung	lung
21	chr5:111742400-111742800	Enhancers	Spleen	Spleen
22	chr5:111742400-111743000	Enhancers	Fetal Kidney	kidney
23	chr5:111742400-111743200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111742400-111743200	Enhancers	Pancreas	Pancrea
25	chr5:111742400-111743400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:111742400-111743600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:111742400-111743800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:111742600-111742800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:111742600-111742800	Flanking Active TSS	Fetal Heart	heart
30	chr5:111742600-111742800	Enhancers	Psoas Muscle	Psoas
31	chr5:111742600-111743200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:111742600-111743200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:111742600-111743200	Enhancers	Right Ventricle	heart
34	chr5:111742600-111743400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:111742600-111743400	Enhancers	Brain Hippocampus Middle	brain
36	chr5:111742600-111743400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:111742600-111743600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:111742600-111743600	Enhancers	Brain Substantia Nigra	brain
39	chr5:111742600-111743600	Enhancers	HUVEC	blood vessel
40	chr5:111742600-111743800	Enhancers	HUES48 Cell Line	embryonic stem cell

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