Variant report

Variant	rs73138293
Chromosome Location	chr7:65623506-65623507
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	chr7:65540658..65542432-chr7:65622209..65624155,2	K562	blood:

Variant related genes	Relation type
ENSG00000126522	Chromatin interaction

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]
rs73138301	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
rs73138293	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73138293	GS1-124K5.12	cis	lung	GTEx
rs73138293	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
2	chr7:65609600-65624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
4	chr7:65615200-65623800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:65615200-65623800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:65615400-65623600	Strong transcription	Primary B cells from cord blood	blood
7	chr7:65615400-65623600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:65615400-65623800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65615600-65624000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:65615800-65623800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:65615800-65624000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:65616000-65623800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:65616200-65624400	Weak transcription	Psoas Muscle	Psoas
14	chr7:65616400-65623600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:65617200-65623800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:65617600-65628800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
18	chr7:65617800-65623800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:65618000-65623800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:65618000-65624600	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:65618200-65623600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:65618200-65623600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:65618200-65623800	Strong transcription	Osteobl	bone
24	chr7:65618200-65624000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr7:65618200-65624200	Strong transcription	Fetal Lung	lung
26	chr7:65618200-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:65618200-65632400	Weak transcription	HUVEC	blood vessel
28	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
29	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
30	chr7:65618400-65623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:65618400-65623800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:65618400-65624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:65618800-65624800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:65618800-65625400	Weak transcription	Fetal Heart	heart
35	chr7:65618800-65627600	Weak transcription	NHEK	skin
36	chr7:65619000-65625000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:65619000-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:65619000-65625400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:65619000-65627800	Weak transcription	HepG2	liver
40	chr7:65619000-65631200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:65619000-65632400	Weak transcription	NHLF	lung
42	chr7:65619000-65632800	Weak transcription	Gastric	stomach
43	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
44	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
45	chr7:65619000-65635600	Weak transcription	HMEC	breast
46	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:65619400-65623800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:65619400-65623800	Strong transcription	Adipose Nuclei	Adipose
49	chr7:65619400-65624200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:65619400-65625400	Weak transcription	Small Intestine	intestine

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