Variant report

Variant	rs2703386
Chromosome Location	chr8:110563924-110563925
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110558096..110562827-chr8:110563736..110568570,7	K562	blood:
2	chr8:110429847..110432433-chr8:110563129..110565263,2	K562	blood:
3	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
4	chr8:110563214..110565678-chr8:110658219..110659984,2	K562	blood:
5	chr8:110462866..110463874-chr8:110563606..110564958,17	MCF-7	breast:
6	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
7	chr8:110462733..110464086-chr8:110563917..110564843,7	MCF-7	breast:
8	chr8:110551988..110555719-chr8:110561035..110566674,6	K562	blood:
9	chr8:110551256..110553567-chr8:110563249..110565097,2	MCF-7	breast:
10	chr8:110531770..110532745-chr8:110563872..110564774,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10088258	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10088612	0.89[ASN][1000 genomes]
rs10088684	0.89[ASN][1000 genomes]
rs1009371	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10108943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10111682	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1013482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1026437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1044230	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10505133	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249244	0.91[ASN][1000 genomes]
rs13439318	0.89[ASN][1000 genomes]
rs13439864	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1379361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1379366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1379367	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1457282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1457283	0.82[ASN][1000 genomes]
rs1457288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1457294	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1457295	0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563578	0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563580	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1617259	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1617350	0.89[ASN][1000 genomes]
rs1630134	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1630942	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673383	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673384	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673386	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673389	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673395	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673399	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673409	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673410	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673411	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673412	0.91[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs1673413	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673421	0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673422	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1673424	0.87[ASN][1000 genomes]
rs1673425	0.87[ASN][1000 genomes]
rs1673426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673427	0.88[ASN][1000 genomes]
rs1673428	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17377636	0.91[ASN][1000 genomes]
rs17449762	0.91[ASN][1000 genomes]
rs1783140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783141	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1783147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1783153	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783155	0.87[ASN][1000 genomes]
rs1783157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783159	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783161	0.87[ASN][1000 genomes]
rs1783162	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783167	0.88[ASN][1000 genomes]
rs1783168	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783169	0.91[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783170	0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783171	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783172	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783173	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783174	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783175	0.91[ASN][1000 genomes]
rs1892759	0.89[JPT][hapmap]
rs1892760	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2022934	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022935	0.91[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2154658	0.89[JPT][hapmap]
rs2154660	0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2236627	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2236628	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2607624	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607625	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607630	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607632	0.84[ASN][1000 genomes]
rs2607633	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2607635	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2607636	0.84[ASN][1000 genomes]
rs2703377	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2703382	0.91[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2703384	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2703387	0.95[ASN][1000 genomes]
rs2703388	0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2703389	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2844231	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844234	0.82[CHB][hapmap];0.80[CHD][hapmap];0.89[ASN][1000 genomes]
rs2844235	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844236	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844255	0.84[ASN][1000 genomes]
rs2844256	0.83[ASN][1000 genomes]
rs2844257	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844258	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844259	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2844260	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844261	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3808380	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4529437	0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6995356	0.88[ASN][1000 genomes]
rs7006166	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7011340	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7011803	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs720139	0.89[ASN][1000 genomes]
rs720140	0.89[ASN][1000 genomes]
rs730885	0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs753995	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7818726	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821242	0.91[ASN][1000 genomes]
rs897840	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs897842	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs930877	0.84[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2703386	PKHD1L1	cis	Lymphoblastoid	GTEx
rs2703386	EBAG9	cis	parietal	SCAN
rs2703386	PKHD1L1	cis	lymphoblastoid	seeQTL
rs2703386	SYBU	cis	cerebellum	SCAN
rs2703386	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2703386	PKHD1L1	cis	multi-tissue	Pritchard

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110564200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:110553000-110565000	Weak transcription	Ovary	ovary
3	chr8:110553000-110565600	Weak transcription	Placenta	Placenta
4	chr8:110553000-110569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:110553000-110569800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:110553000-110570000	Weak transcription	Lung	lung
7	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
9	chr8:110553400-110566600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:110553400-110569800	Weak transcription	Osteobl	bone
11	chr8:110553800-110566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:110553800-110566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:110553800-110569600	Weak transcription	Fetal Kidney	kidney
14	chr8:110553800-110569800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:110553800-110613000	Weak transcription	NHLF	lung
16	chr8:110554000-110565400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:110554000-110565400	Weak transcription	HSMM	muscle
18	chr8:110554000-110565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:110554000-110565800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:110554000-110566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:110554000-110567000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:110554000-110567000	Weak transcription	NH-A	brain
23	chr8:110554000-110567800	Weak transcription	Fetal Thymus	thymus
24	chr8:110554000-110569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:110554000-110569600	Weak transcription	Fetal Brain Female	brain
26	chr8:110554000-110569800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:110554000-110569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:110554000-110569800	Weak transcription	Fetal Brain Male	brain
29	chr8:110554000-110569800	Weak transcription	Left Ventricle	heart
30	chr8:110554000-110569800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:110554000-110569800	Weak transcription	Small Intestine	intestine
32	chr8:110554000-110569800	Weak transcription	Thymus	Thymus
33	chr8:110554000-110570000	Weak transcription	Fetal Stomach	stomach
34	chr8:110554000-110570000	Weak transcription	Right Ventricle	heart
35	chr8:110554000-110571400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:110554000-110571400	Weak transcription	Pancreas	Pancrea
37	chr8:110554000-110583000	Weak transcription	HMEC	breast
38	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
39	chr8:110554200-110564200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:110554200-110565800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:110554200-110566600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:110554200-110567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:110554200-110569800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:110554200-110569800	Weak transcription	HSMMtube	muscle
45	chr8:110554200-110576000	Weak transcription	Brain Substantia Nigra	brain
46	chr8:110554400-110564200	Weak transcription	Primary B cells from cord blood	blood
47	chr8:110554400-110565000	Weak transcription	NHEK	skin
48	chr8:110554400-110565200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:110554400-110565200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:110554400-110565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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