Variant report

Variant	rs7930305
Chromosome Location	chr11:72894772-72894773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72882800..72886354-chr11:72892390..72894906,3	K562	blood:
2	chr11:72886665..72889776-chr11:72892750..72895782,3	K562	blood:
3	chr11:72873535..72875164-chr11:72892310..72895031,2	K562	blood:
4	chr11:72887501..72890121-chr11:72893540..72895310,2	MCF-7	breast:
5	chr11:72893314..72909448-chr11:72922899..72955285,117	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175591	Chromatin interaction
ENSG00000260401	Chromatin interaction
ENSG00000215841	Chromatin interaction
ENSG00000256568	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12576740	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783585	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1791933	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57351800	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57854130	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58237213	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60505578	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7930305	EXOC4	trans	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72888800-72899400	Weak transcription	Aorta	Aorta
2	chr11:72889000-72896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:72889200-72896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:72889200-72896000	Weak transcription	NH-A	brain
5	chr11:72889200-72896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:72889200-72896200	Weak transcription	Gastric	stomach
7	chr11:72889400-72896200	Weak transcription	Hela-S3	cervix
8	chr11:72889600-72895800	Weak transcription	Primary B cells from cord blood	blood
9	chr11:72889600-72896000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:72889600-72896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:72889600-72896600	Weak transcription	Right Ventricle	heart
12	chr11:72890400-72896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:72893600-72894800	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:72893600-72894800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:72893600-72894800	Enhancers	Fetal Intestine Small	intestine
16	chr11:72893600-72896000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:72893600-72896800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:72894000-72894800	Enhancers	Colonic Mucosa	Colon
19	chr11:72894000-72894800	Enhancers	Left Ventricle	heart
20	chr11:72894200-72894800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:72894400-72894800	Enhancers	Fetal Heart	heart
22	chr11:72894400-72894800	Enhancers	Ovary	ovary
23	chr11:72894400-72894800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:72894400-72896000	Weak transcription	NHEK	skin
25	chr11:72894400-72896400	Enhancers	K562	blood
26	chr11:72894400-72896800	Weak transcription	Stomach Mucosa	stomach
27	chr11:72894400-72897200	Weak transcription	Right Atrium	heart
28	chr11:72894600-72895600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:72894600-72896000	Weak transcription	Spleen	Spleen
30	chr11:72894600-72896200	Weak transcription	Pancreas	Pancrea
31	chr11:72894600-72896200	Weak transcription	HepG2	liver
32	chr11:72894600-72900600	Weak transcription	Fetal Intestine Large	intestine

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