Variant report

Variant	rs59214919
Chromosome Location	chr7:127876310-127876311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127874763..127879327-chr7:127896549..127902097,6	MCF-7	breast:
2	chr7:127874560..127877136-chr7:127888514..127890542,2	K562	blood:
3	chr7:127873554..127876347-chr7:127879499..127882292,2	MCF-7	breast:
4	chr7:127875949..127878533-chr7:127881337..127883773,2	K562	blood:
5	chr7:127870227..127873605-chr7:127875454..127877245,3	K562	blood:
6	chr7:127804591..127807479-chr7:127875712..127877601,2	K562	blood:
7	chr7:127874560..127877136-chr7:127887540..127890542,3	K562	blood:

Variant related genes	Relation type
ENSG00000174697	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10954174	0.86[ASN][1000 genomes]
rs13306517	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2278814	1.00[ASN][1000 genomes]
rs28954373	1.00[ASN][1000 genomes]
rs3793162	0.86[ASN][1000 genomes]
rs41528456	0.86[ASN][1000 genomes]
rs4236625	1.00[ASN][1000 genomes]
rs4731424	1.00[ASN][1000 genomes]
rs4731427	1.00[ASN][1000 genomes]
rs6956510	0.82[ASN][1000 genomes]
rs72550733	1.00[ASN][1000 genomes]
rs72563752	1.00[ASN][1000 genomes]
rs72563765	1.00[ASN][1000 genomes]
rs791606	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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127868400-127876800	Weak transcription	HSMMtube	muscle
2	chr7:127874400-127876400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:127874400-127877600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:127874600-127877200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr7:127874800-127877200	Enhancers	Adipose Nuclei	Adipose
6	chr7:127875000-127876400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:127875200-127876400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:127875400-127876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127875400-127876400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:127875600-127876400	Enhancers	Right Atrium	heart
11	chr7:127875600-127877200	Active TSS	Primary B cells from cord blood	blood
12	chr7:127875800-127878200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:127876000-127877200	Enhancers	Placenta	Placenta
14	chr7:127876000-127878400	Enhancers	HMEC	breast
15	chr7:127876200-127876600	Weak transcription	Gastric	stomach
16	chr7:127876200-127876800	Active TSS	Primary hematopoietic stem cells	blood
17	chr7:127876200-127877000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:127876200-127877200	Enhancers	Esophagus	oesophagus
19	chr7:127876200-127877400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:127876200-127877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:127876200-127877600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:127876200-127877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:127876200-127877800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:127876200-127877800	Enhancers	HSMM	muscle
25	chr7:127876200-127878000	Enhancers	NHEK	skin

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