Variant report

Variant	rs55974914
Chromosome Location	chr6:35137006-35137007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35134997..35137568-chr6:35225872..35228081,2	MCF-7	breast:
2	chr6:35127079..35138793-chr6:35145525..35157743,32	MCF-7	breast:
3	chr6:35136063..35139125-chr6:35139498..35141793,3	K562	blood:

Variant related genes	Relation type
ENSG00000065029	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28522747	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713840	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56154344	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457807	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6933979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366880	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9368851	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394278	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394279	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9469953	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469955	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3340708	chr6:35135274-35139572	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55974914	DEF6	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35128600-35137400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35128800-35137400	Weak transcription	Brain Angular Gyrus	brain
3	chr6:35130600-35141400	Weak transcription	Brain Substantia Nigra	brain
4	chr6:35131000-35137400	Weak transcription	Lung	lung
5	chr6:35134000-35137400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:35134200-35137400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:35134200-35137400	Weak transcription	NH-A	brain
8	chr6:35134400-35137200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:35134400-35137400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:35134400-35137400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:35134400-35137400	Weak transcription	Osteobl	bone
12	chr6:35134400-35137600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:35134400-35140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:35134600-35137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:35134600-35137400	Weak transcription	NHDF-Ad	bronchial
16	chr6:35134600-35137800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:35134800-35137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:35134800-35137400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:35135000-35137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:35135000-35137400	Weak transcription	Gastric	stomach
21	chr6:35135000-35148800	Weak transcription	Esophagus	oesophagus
22	chr6:35135600-35138600	Weak transcription	Stomach Mucosa	stomach
23	chr6:35136600-35137600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:35136600-35139400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:35136600-35139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:35136800-35137200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:35137000-35137400	Weak transcription	Fetal Kidney	kidney
28	chr6:35137000-35141600	Weak transcription	Fetal Heart	heart
29	chr6:35137000-35141600	Weak transcription	Left Ventricle	heart
30	chr6:35137000-35148800	Weak transcription	Right Atrium	heart

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