Variant report

Variant	rs181440
Chromosome Location	chr10:119103471-119103472
allele	A/C
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: 119 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1008448	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10377	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10787770	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10886054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10886061	0.87[ASN][1000 genomes]
rs10886063	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10886064	0.87[ASN][1000 genomes]
rs10886065	0.84[ASN][1000 genomes]
rs11197960	0.87[ASN][1000 genomes]
rs11197968	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11197969	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11197970	0.87[ASN][1000 genomes]
rs11197974	0.85[ASN][1000 genomes]
rs11197975	0.85[ASN][1000 genomes]
rs11197976	0.85[ASN][1000 genomes]
rs11197977	0.84[ASN][1000 genomes]
rs11197981	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11498892	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12243133	0.85[ASN][1000 genomes]
rs12243628	0.87[ASN][1000 genomes]
rs12247698	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12256994	0.85[ASN][1000 genomes]
rs12263512	0.87[ASN][1000 genomes]
rs12269460	0.87[ASN][1000 genomes]
rs12413507	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs12573009	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs14240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs1468563	0.87[ASN][1000 genomes]
rs1935166	0.86[ASN][1000 genomes]
rs1935167	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1935168	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1954212	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1954213	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2052075	0.81[ASN][1000 genomes]
rs2096112	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2244249	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2255367	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2275670	0.85[ASN][1000 genomes]
rs2275671	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420457	0.85[ASN][1000 genomes]
rs2429505	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2487692	0.81[ASN][1000 genomes]
rs2490626	0.81[ASN][1000 genomes]
rs2490628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2490631	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532781	0.81[ASN][1000 genomes]
rs2532782	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532783	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532784	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532785	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532786	0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532787	0.81[ASN][1000 genomes]
rs2532788	0.81[ASN][1000 genomes]
rs2532789	0.88[ASN][1000 genomes]
rs2532792	0.88[ASN][1000 genomes]
rs2532793	0.88[ASN][1000 genomes]
rs2532795	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2532796	0.84[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2532813	0.81[ASN][1000 genomes]
rs2532815	0.81[ASN][1000 genomes]
rs2532817	0.86[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532834	0.81[ASN][1000 genomes]
rs2532835	0.81[ASN][1000 genomes]
rs2532836	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532838	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532839	0.87[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532840	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2532841	0.87[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs2532842	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532844	0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2794414	0.83[ASN][1000 genomes]
rs2794416	0.88[ASN][1000 genomes]
rs2794418	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2794419	0.81[ASN][1000 genomes]
rs2794421	0.82[ASN][1000 genomes]
rs2794435	0.81[ASN][1000 genomes]
rs2794436	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803799	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803801	0.85[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803802	0.81[ASN][1000 genomes]
rs2803803	0.83[ASN][1000 genomes]
rs2803804	0.86[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2803807	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803810	0.87[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803816	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs34247425	0.86[ASN][1000 genomes]
rs3523	0.83[JPT][hapmap]
rs363223	1.00[ASW][hapmap];0.88[GIH][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs363224	0.87[ASW][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs363225	0.83[CEU][hapmap]
rs363230	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs363235	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs363236	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs363237	0.88[ASN][1000 genomes]
rs363240	0.80[ASN][1000 genomes]
rs363242	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs363243	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs363275	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs363276	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs363278	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs363282	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs3814229	0.85[ASN][1000 genomes]
rs3814230	0.86[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs4751623	0.84[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4752054	0.85[ASN][1000 genomes]
rs6585431	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7070594	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs7072027	0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7072785	0.85[ASN][1000 genomes]
rs7086651	0.87[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs7087395	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7088401	0.86[ASN][1000 genomes]
rs72825530	0.88[ASN][1000 genomes]
rs7897828	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7898092	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7900191	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7901203	0.87[ASN][1000 genomes]
rs7902237	0.87[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs979992	0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs181440	PDZD8	cis	Artery Aorta	GTEx
rs181440	PDZD8	cis	Artery Tibial	GTEx
rs181440	PDZD8	cis	Esophagus Muscularis	GTEx
rs181440	PDZD8	cis	normal skin	skin_eQTL
rs181440	PDZD8	cis	lymphoblastoid	seeQTL
rs181440	PDZD8	Cis_1M	lymphoblastoid	RTeQTL
rs181440	SLC18A2	cis	Artery Tibial	GTEx
rs181440	SLC18A2	cis	Muscle Skeletal	GTEx
rs181440	SLC18A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 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	chr10:119099400-119104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:119099400-119106200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:119099600-119105200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:119099600-119108400	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:119099800-119104600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:119099800-119114800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:119100000-119105800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:119100000-119106400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:119100000-119106400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:119100000-119114800	Weak transcription	Fetal Heart	heart
34	chr10:119100200-119109400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:119100200-119131000	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:119100600-119104400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:119100600-119104600	Weak transcription	Primary T cells from cord blood	blood
38	chr10:119100800-119104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:119100800-119104600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr10:119100800-119106200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:119101000-119112800	Weak transcription	Dnd41	blood
42	chr10:119101600-119104400	Weak transcription	Fetal Intestine Small	intestine
43	chr10:119102200-119103600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:119102200-119104800	Weak transcription	HepG2	liver
45	chr10:119102200-119112800	Weak transcription	Primary B cells from cord blood	blood
46	chr10:119102400-119104400	Weak transcription	Fetal Intestine Large	intestine
47	chr10:119102400-119104600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr10:119102400-119105200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:119102400-119105600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:119102400-119110600	Weak transcription	Primary B cells from peripheral blood	blood

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