Variant report

Variant	rs17103751
Chromosome Location	chr5:145167844-145167845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145166298..145168542-chr5:145169690..145172303,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10065896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10077055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10077064	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10477287	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10477288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10477289	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10515561	1.00[CHB][hapmap]
rs12109705	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110142	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17103749	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs338898	1.00[CHB][hapmap]
rs338900	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs73306019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73306023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7725012	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9324994	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9324998	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs17103751	DDX3Y	trans	lymphoblastoid	seeQTL
rs17103751	CYorf15B	trans	lymphoblastoid	seeQTL
rs17103751	XIST	trans	lymphoblastoid	seeQTL
rs17103751	USP9Y	trans	lymphoblastoid	seeQTL
rs17103751	RPS4Y1	trans	lymphoblastoid	seeQTL
rs17103751	KDM5D	trans	lymphoblastoid	seeQTL
rs17103751	EIF1AY	trans	lymphoblastoid	seeQTL
rs17103751	UTY	trans	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145141200-145194400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:145152200-145171000	Weak transcription	Stomach Mucosa	stomach
5	chr5:145154600-145169600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:145156000-145171400	Weak transcription	Aorta	Aorta
7	chr5:145158400-145171400	Weak transcription	Fetal Stomach	stomach
8	chr5:145158400-145176800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:145158400-145177000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:145158400-145179000	Weak transcription	Gastric	stomach
11	chr5:145158400-145196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:145158400-145207000	Weak transcription	Esophagus	oesophagus
13	chr5:145161000-145176600	Weak transcription	HUVEC	blood vessel
14	chr5:145161000-145183400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:145162800-145171400	Weak transcription	Lung	lung
16	chr5:145162800-145198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:145163600-145170000	Weak transcription	Fetal Intestine Large	intestine
19	chr5:145164200-145172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:145165800-145184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:145166400-145168200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:145166600-145174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:145166800-145168000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:145166800-145170400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:145167000-145176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:145167200-145168000	Strong transcription	Fetal Intestine Small	intestine
27	chr5:145167200-145171400	Weak transcription	Adipose Nuclei	Adipose
28	chr5:145167200-145172400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:145167200-145172400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:145167200-145185200	Weak transcription	K562	blood
31	chr5:145167400-145168800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:145167400-145172400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:145167400-145174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:145167400-145174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:145167400-145176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:145167400-145176800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:145167400-145200600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:145167600-145168200	Enhancers	Fetal Heart	heart
39	chr5:145167600-145168200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:145167600-145169200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:145167600-145174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:145167600-145176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:145167800-145168000	Enhancers	NH-A	brain
44	chr5:145167800-145169400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:145167800-145173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:145167800-145179000	Weak transcription	Ovary	ovary
47	chr5:145167800-145191600	Weak transcription	Left Ventricle	heart
48	chr5:145167800-145194800	Weak transcription	Fetal Lung	lung

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