Variant report

Variant	rs4751622
Chromosome Location	chr10:119112805-119112806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:119112310..119114001-chr10:119126001..119128034,2	K562	blood:
2	chr10:119109550..119117175-chr10:119118758..119125323,7	K562	blood:
3	chr10:119106210..119108096-chr10:119110462..119113410,2	MCF-7	breast:
4	chr10:119111589..119113973-chr10:119122472..119125164,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10082463	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];0.89[ASN][1000 genomes]
rs10787768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10787769	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10787772	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10886062	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];0.87[ASN][1000 genomes]
rs11197945	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11197961	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197983	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11197985	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12221325	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12243925	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12244411	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs12249877	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12250377	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12260782	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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];0.94[ASN][1000 genomes]
rs12573252	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283142	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2901123	0.83[AMR][1000 genomes]
rs363256	0.85[EUR][1000 genomes]
rs363262	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs363279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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];0.87[ASN][1000 genomes]
rs4751621	1.00[CEU][hapmap];0.93[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];1.00[ASN][1000 genomes]
rs4752051	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752052	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]
rs4752055	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7090219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825561	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs887341	0.83[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4751622	PDZD8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119063800-119113200	Weak transcription	Fetal Thymus	thymus
2	chr10:119082400-119118600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:119094000-119113200	Weak transcription	Thymus	Thymus
4	chr10:119095000-119113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:119095600-119113400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:119097000-119114600	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:119099800-119114800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr10:119100000-119114800	Weak transcription	Fetal Heart	heart
9	chr10:119100200-119131000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:119102400-119114600	Weak transcription	Spleen	Spleen
11	chr10:119102400-119131400	Weak transcription	Psoas Muscle	Psoas
12	chr10:119102600-119113400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:119102600-119113400	Weak transcription	Brain Angular Gyrus	brain
14	chr10:119102600-119119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:119102800-119119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:119102800-119123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:119105000-119115000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:119105000-119118400	Weak transcription	Ovary	ovary
19	chr10:119105000-119119600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:119105200-119113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:119105400-119113400	Weak transcription	HepG2	liver
22	chr10:119107200-119116200	Weak transcription	Fetal Intestine Small	intestine
23	chr10:119107200-119131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:119108000-119114000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:119108200-119114200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr10:119108600-119113400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:119108800-119113800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:119108800-119114800	Weak transcription	Stomach Mucosa	stomach
29	chr10:119109000-119114200	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:119109200-119113400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:119109400-119130000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:119109800-119113600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:119110600-119115200	Enhancers	K562	blood
34	chr10:119110600-119115400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:119111000-119114000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:119111000-119115200	Enhancers	Primary T cells from cord blood	blood
37	chr10:119111000-119116600	Enhancers	A549	lung
38	chr10:119111000-119124600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:119111200-119113000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr10:119111200-119113400	Weak transcription	GM12878-XiMat	blood
41	chr10:119111400-119115000	Weak transcription	Aorta	Aorta
42	chr10:119111600-119115200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr10:119111600-119115400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr10:119111600-119116000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr10:119111800-119113600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:119111800-119115400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr10:119111800-119115400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr10:119111800-119116200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:119111800-119129000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:119112000-119113400	Weak transcription	Fetal Intestine Large	intestine

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