Variant report

Variant	rs56130647
Chromosome Location	chr14:55309505-55309506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55303907..55306505-chr14:55308047..55309664,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17253577	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17253591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17671345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2878169	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55786710	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156475	0.90[EUR][1000 genomes]

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56130647	WDHD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:55305200-55312200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:55305400-55314000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
8	chr14:55305600-55313200	Strong transcription	Primary T cells from cord blood	blood
9	chr14:55305800-55313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:55305800-55313200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:55305800-55313600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
14	chr14:55306000-55314200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:55306400-55309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:55306400-55311200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:55306400-55311400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:55306400-55312800	Weak transcription	Gastric	stomach
21	chr14:55306400-55336800	Weak transcription	Dnd41	blood
22	chr14:55306600-55321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
25	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
26	chr14:55307000-55310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:55307000-55312400	Weak transcription	Stomach Mucosa	stomach
28	chr14:55307000-55313400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:55307200-55309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:55307200-55309800	Strong transcription	GM12878-XiMat	blood
31	chr14:55307200-55313000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:55307400-55309600	Weak transcription	Aorta	Aorta
33	chr14:55307400-55309800	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:55307400-55309800	Weak transcription	Fetal Stomach	stomach
35	chr14:55307400-55310200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:55307600-55309800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:55307800-55310200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:55308000-55309800	Strong transcription	Thymus	Thymus
39	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:55308200-55310000	Weak transcription	Fetal Intestine Large	intestine
41	chr14:55308200-55310800	Weak transcription	HepG2	liver
42	chr14:55308200-55313000	Weak transcription	Esophagus	oesophagus
43	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:55308400-55309600	Weak transcription	Left Ventricle	heart
45	chr14:55308400-55310000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:55308400-55320600	Weak transcription	Primary B cells from cord blood	blood
47	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:55308600-55309600	Weak transcription	Fetal Intestine Small	intestine
49	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:55308600-55325600	Weak transcription	Lung	lung

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