Variant report

Variant	rs12243628
Chromosome Location	chr10:119124948-119124949
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	chr10:119111589..119113973-chr10:119122472..119125164,2	K562	blood:
2	chr10:119109550..119117175-chr10:119118758..119125323,7	K562	blood:
3	chr10:119117567..119122447-chr10:119122723..119126609,5	K562	blood:
4	chr10:119117567..119122447-chr10:119122723..119126440,5	K562	blood:
5	chr10:119121724..119125606-chr10:119133257..119136561,5	K562	blood:
6	chr10:119124009..119125919-chr10:119130332..119132038,2	K562	blood:
7	chr10:119120696..119122736-chr10:119123763..119126421,2	MCF-7	breast:
8	chr10:119124177..119125697-chr10:119127748..119130278,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222197	Chromatin interaction
ENSG00000165650	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1008448	0.86[ASN][1000 genomes]
rs10787770	0.94[ASN][1000 genomes]
rs10886061	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10886062	0.85[ASN][1000 genomes]
rs10886063	0.94[ASN][1000 genomes]
rs10886064	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10886065	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11197960	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197968	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197969	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197974	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11197975	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11197976	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11197977	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11197981	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11498892	0.92[ASN][1000 genomes]
rs12243133	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12247698	0.94[ASN][1000 genomes]
rs12256994	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12263512	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12413507	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12414644	0.84[ASN][1000 genomes]
rs12569963	0.85[ASN][1000 genomes]
rs12571779	0.84[ASN][1000 genomes]
rs12573009	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1468563	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181440	0.87[ASN][1000 genomes]
rs1860407	0.82[ASN][1000 genomes]
rs1935166	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1935167	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935168	0.94[ASN][1000 genomes]
rs1954212	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1954213	0.88[ASN][1000 genomes]
rs2052075	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2096112	0.86[ASN][1000 genomes]
rs2244249	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2244375	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2255062	0.83[ASN][1000 genomes]
rs2255367	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2275670	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275671	0.90[ASN][1000 genomes]
rs2420457	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429505	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2429508	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2487692	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2490626	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2490631	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532781	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532782	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532783	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532784	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532785	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532786	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532787	0.90[ASN][1000 genomes]
rs2532788	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532789	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532792	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532793	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532795	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532796	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532813	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532815	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532817	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532834	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532835	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532836	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532838	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532839	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532841	0.86[ASN][1000 genomes]
rs2532842	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2532844	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794414	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794416	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794418	0.86[ASN][1000 genomes]
rs2794419	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2794421	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2794435	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2794436	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2803799	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2803801	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2803802	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2803803	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2803804	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2803807	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2803809	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2803810	0.90[ASN][1000 genomes]
rs2803816	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2901123	0.85[ASN][1000 genomes]
rs34247425	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3523	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs363235	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs363236	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs363240	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs363242	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs363243	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs363275	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs363276	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs363278	0.87[ASN][1000 genomes]
rs363282	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3814229	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814230	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751623	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6585431	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7070594	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7072027	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072785	0.99[ASN][1000 genomes]
rs7086651	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7087395	0.94[ASN][1000 genomes]
rs7088401	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72825530	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7897828	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7898092	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7900191	0.90[ASN][1000 genomes]
rs7901203	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902237	0.90[ASN][1000 genomes]
rs887341	0.84[ASN][1000 genomes]
rs979992	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12243628	PDZD8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119100200-119131000	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:119102400-119131400	Weak transcription	Psoas Muscle	Psoas
3	chr10:119107200-119131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:119109400-119130000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:119111800-119129000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:119112600-119132800	Weak transcription	Gastric	stomach
7	chr10:119114200-119128200	Weak transcription	Thymus	Thymus
8	chr10:119115200-119126600	Weak transcription	Fetal Thymus	thymus
9	chr10:119116200-119125000	Weak transcription	Dnd41	blood
10	chr10:119119200-119126000	Weak transcription	Pancreas	Pancrea
11	chr10:119119200-119127200	Enhancers	NHEK	skin
12	chr10:119119400-119125400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr10:119119600-119127200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:119119800-119126200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:119120000-119130800	Weak transcription	Brain Anterior Caudate	brain
16	chr10:119120000-119132200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:119121000-119127200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:119121400-119130000	Enhancers	Fetal Intestine Large	intestine
19	chr10:119121600-119130600	Enhancers	HepG2	liver
20	chr10:119122400-119130000	Enhancers	Fetal Intestine Small	intestine
21	chr10:119122800-119126600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:119122800-119126800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:119123000-119128200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr10:119123000-119129200	Weak transcription	Brain Germinal Matrix	brain
25	chr10:119123200-119126600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:119123200-119127400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:119123400-119126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:119123600-119125800	Enhancers	Fetal Kidney	kidney
29	chr10:119123600-119126600	Enhancers	Hela-S3	cervix
30	chr10:119123600-119130400	Weak transcription	Brain Substantia Nigra	brain
31	chr10:119123800-119131000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:119123800-119131000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:119123800-119131600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:119124000-119125200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:119124000-119126200	Enhancers	HUVEC	blood vessel
36	chr10:119124000-119128600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:119124000-119129000	Weak transcription	HSMM	muscle
38	chr10:119124000-119129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:119124000-119129200	Weak transcription	NHDF-Ad	bronchial
40	chr10:119124000-119132000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:119124200-119125200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:119124200-119125800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:119124200-119126800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr10:119124200-119127400	Enhancers	Primary hematopoietic stem cells	blood
45	chr10:119124200-119129000	Weak transcription	Fetal Brain Male	brain
46	chr10:119124200-119130000	Weak transcription	Adipose Nuclei	Adipose
47	chr10:119124200-119131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr10:119124200-119131000	Weak transcription	Small Intestine	intestine
49	chr10:119124200-119131600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:119124400-119125000	Weak transcription	Primary T cells from cord blood	blood

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