Variant report

Variant	rs73138301
Chromosome Location	chr7:65626413-65626414
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65617048..65619822-chr7:65625013..65626809,2	MCF-7	breast:
2	chr7:65625074..65627224-chr7:65631943..65634316,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28376899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59109807	0.80[ASN][1000 genomes]
rs61649309	0.80[ASN][1000 genomes]
rs73138288	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140261	0.80[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73138301	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73138301	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73138301	GS1-124K5.12	cis	lung	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
2	chr7:65617600-65628800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
4	chr7:65618200-65632400	Weak transcription	HUVEC	blood vessel
5	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
6	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
7	chr7:65618800-65627600	Weak transcription	NHEK	skin
8	chr7:65619000-65627800	Weak transcription	HepG2	liver
9	chr7:65619000-65631200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:65619000-65632400	Weak transcription	NHLF	lung
11	chr7:65619000-65632800	Weak transcription	Gastric	stomach
12	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
13	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
14	chr7:65619000-65635600	Weak transcription	HMEC	breast
15	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:65619400-65632400	Weak transcription	NHDF-Ad	bronchial
17	chr7:65620800-65635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:65621000-65627800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:65622400-65632800	Weak transcription	Brain Substantia Nigra	brain
20	chr7:65622600-65635600	Weak transcription	Stomach Mucosa	stomach
21	chr7:65622800-65632600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:65623600-65627000	Weak transcription	Primary B cells from cord blood	blood
23	chr7:65623600-65627200	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:65623600-65627800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:65623600-65630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:65623600-65632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:65623600-65633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:65623600-65635400	Weak transcription	Colonic Mucosa	Colon
29	chr7:65623600-65635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:65623800-65626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:65623800-65626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:65623800-65626800	Weak transcription	Placenta	Placenta
33	chr7:65623800-65627000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:65623800-65627000	Weak transcription	Thymus	Thymus
35	chr7:65623800-65627400	Weak transcription	Primary T cells from cord blood	blood
36	chr7:65623800-65627800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:65623800-65627800	Weak transcription	Liver	Liver
38	chr7:65623800-65629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:65623800-65632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:65623800-65632600	Weak transcription	A549	lung
41	chr7:65623800-65632800	Weak transcription	NH-A	brain
42	chr7:65623800-65632800	Weak transcription	Osteobl	bone
43	chr7:65623800-65633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:65623800-65633000	Weak transcription	K562	blood
45	chr7:65623800-65635400	Weak transcription	Adipose Nuclei	Adipose
46	chr7:65623800-65635400	Weak transcription	Lung	lung
47	chr7:65623800-65635400	Weak transcription	Ovary	ovary
48	chr7:65623800-65635400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:65623800-65635400	Weak transcription	HSMMtube	muscle
50	chr7:65624000-65629400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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