Variant report

Variant	rs1793396
Chromosome Location	chr11:75212400-75212401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75187485..75189633-chr11:75210513..75213163,2	MCF-7	breast:
2	chr11:75211217..75212883-chr11:75213293..75214975,2	K562	blood:
3	chr11:75209084..75211834-chr11:75212223..75216689,4	K562	blood:
4	chr11:75210912..75212429-chr11:75217763..75219597,2	K562	blood:
5	chr11:75209740..75211543-chr11:75211641..75214647,3	MCF-7	breast:
6	chr11:75210731..75213962-chr11:75224563..75227666,3	MCF-7	breast:
7	chr11:75210912..75213100-chr11:75217815..75220736,3	K562	blood:
8	chr11:75174189..75176597-chr11:75211783..75214629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1790155	0.82[YRI][hapmap]
rs1790160	0.81[JPT][hapmap]
rs1790303	0.93[EUR][1000 genomes]
rs1793398	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611449	0.82[JPT][hapmap]
rs623338	0.83[JPT][hapmap]
rs653673	0.82[JPT][hapmap]
rs668727	0.88[JPT][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1793396	GDPD5	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
2	chr11:75203800-75217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:75203800-75219200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:75204000-75216600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:75204200-75213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:75206800-75214200	Enhancers	Placenta	Placenta
7	chr11:75207400-75216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75207600-75216400	Weak transcription	Left Ventricle	heart
9	chr11:75208400-75212400	Enhancers	HSMMtube	muscle
10	chr11:75209000-75213400	Enhancers	Adipose Nuclei	Adipose
11	chr11:75209200-75212800	Enhancers	HMEC	breast
12	chr11:75209200-75213000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:75209200-75213400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:75209400-75212400	Enhancers	Fetal Muscle Leg	muscle
15	chr11:75209400-75212600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:75209600-75212400	Enhancers	NHEK	skin
17	chr11:75209600-75212600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:75209600-75212800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:75209800-75212600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:75210200-75216400	Weak transcription	Psoas Muscle	Psoas
21	chr11:75210400-75219400	Weak transcription	Pancreas	Pancrea
22	chr11:75210600-75212800	Enhancers	Spleen	Spleen
23	chr11:75210800-75213600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:75211000-75212600	Weak transcription	HUVEC	blood vessel
25	chr11:75211200-75212600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:75211200-75213800	Enhancers	HepG2	liver
27	chr11:75211200-75216400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:75211200-75219800	Weak transcription	Esophagus	oesophagus
29	chr11:75211400-75214800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:75211400-75214800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:75211400-75216600	Weak transcription	K562	blood
32	chr11:75211400-75216800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:75211400-75217800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:75211400-75218200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:75211600-75212400	Enhancers	Hela-S3	cervix
36	chr11:75211600-75212600	Enhancers	A549	lung
37	chr11:75211600-75213400	Weak transcription	NHLF	lung
38	chr11:75211800-75216400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:75212000-75212600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:75212000-75213000	Enhancers	Fetal Intestine Large	intestine
41	chr11:75212000-75216400	Weak transcription	HSMM	muscle
42	chr11:75212000-75217000	Weak transcription	Lung	lung
43	chr11:75212200-75213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:75212200-75213200	Weak transcription	GM12878-XiMat	blood
45	chr11:75212200-75215000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:75212200-75216000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:75212200-75216600	Weak transcription	Right Atrium	heart
48	chr11:75212200-75218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:75212400-75212600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr11:75212400-75213000	Weak transcription	HSMMtube	muscle

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