Variant report

Variant	rs4752052
Chromosome Location	chr10:119102636-119102637
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	chr10:119084311..119085948-chr10:119101623..119103833,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10082463	0.91[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs10082507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10787768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10787769	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10787772	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10886062	0.81[GIH][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes]
rs10886069	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11197938	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11197945	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11197961	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11197983	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11197985	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12221325	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12243925	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12244411	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap]
rs12249877	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12250377	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12260782	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12414644	0.86[AMR][1000 genomes]
rs12414758	0.83[AMR][1000 genomes]
rs12571779	0.86[AMR][1000 genomes]
rs12572369	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12573252	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2153714	0.81[GIH][hapmap]
rs2283142	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2532844	0.80[GIH][hapmap]
rs2901123	0.83[AMR][1000 genomes]
rs363238	0.81[MEX][hapmap]
rs363256	0.85[EUR][1000 genomes]
rs363262	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs363279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs363296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4751621	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752051	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752055	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752056	0.81[GIH][hapmap]
rs7090219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825561	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs887341	0.83[AMR][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	esv1007152	chr10:119093939-119103178	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4752052	PDZD8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119063800-119113200	Weak transcription	Fetal Thymus	thymus
2	chr10:119066800-119111600	Weak transcription	Colonic Mucosa	Colon
3	chr10:119069400-119104400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:119071600-119106000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:119072000-119111200	Weak transcription	Aorta	Aorta
6	chr10:119076400-119104800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:119078200-119104400	Weak transcription	HSMM	muscle
8	chr10:119082400-119118600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:119083400-119104600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:119094000-119113200	Weak transcription	Thymus	Thymus
11	chr10:119094200-119108600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:119094400-119105600	Weak transcription	Fetal Stomach	stomach
13	chr10:119095000-119113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr10:119095200-119105000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:119095600-119112200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:119095600-119113400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:119096800-119104200	Weak transcription	Esophagus	oesophagus
18	chr10:119096800-119112000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:119097000-119112000	Weak transcription	Brain Anterior Caudate	brain
20	chr10:119097000-119114600	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:119098400-119104600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:119098600-119105200	Weak transcription	Fetal Kidney	kidney
23	chr10:119099000-119107800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:119099200-119103200	Enhancers	Small Intestine	intestine
25	chr10:119099400-119104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:119099400-119106200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:119099600-119105200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:119099600-119108400	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:119099800-119104600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:119099800-119114800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:119100000-119105800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:119100000-119106400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:119100000-119106400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:119100000-119114800	Weak transcription	Fetal Heart	heart
35	chr10:119100200-119102800	Enhancers	Liver	Liver
36	chr10:119100200-119103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:119100200-119109400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:119100200-119131000	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:119100600-119104400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:119100600-119104600	Weak transcription	Primary T cells from cord blood	blood
41	chr10:119100800-119104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:119100800-119104600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:119100800-119106200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr10:119101000-119112800	Weak transcription	Dnd41	blood
45	chr10:119101200-119102800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:119101200-119102800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr10:119101400-119102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:119101400-119102800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:119101400-119102800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:119101400-119102800	Enhancers	Stomach Mucosa	stomach

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