Variant report

Variant	rs2703377
Chromosome Location	chr8:110566184-110566185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110558096..110562827-chr8:110563736..110568570,7	K562	blood:
2	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
3	chr8:110564777..110566734-chr8:110651673..110653484,2	MCF-7	breast:
4	chr8:110565620..110568770-chr8:110596207..110599107,3	MCF-7	breast:
5	chr8:110564903..110567137-chr8:110578081..110579864,2	MCF-7	breast:
6	chr8:110551898..110554008-chr8:110566174..110569158,3	MCF-7	breast:
7	chr8:110551988..110555719-chr8:110561035..110566674,6	K562	blood:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10088258	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10088612	0.88[ASN][1000 genomes]
rs10088684	0.88[ASN][1000 genomes]
rs1009371	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10108943	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10111682	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1013482	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1026437	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1044230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505133	0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs13249244	0.88[ASN][1000 genomes]
rs13439318	0.88[ASN][1000 genomes]
rs13439864	0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1379361	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1379366	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1379367	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1457282	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1457288	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1457294	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1457295	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs1563578	0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1563580	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1617259	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1617350	0.88[ASN][1000 genomes]
rs1630134	0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1630942	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673383	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673384	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673386	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1673389	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673395	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673399	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673409	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673410	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673411	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673412	1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs1673413	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673415	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673416	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673419	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673420	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673421	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673422	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1673424	0.84[ASN][1000 genomes]
rs1673425	0.84[ASN][1000 genomes]
rs1673426	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673427	0.86[ASN][1000 genomes]
rs1673428	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs17377636	0.88[ASN][1000 genomes]
rs17449762	0.88[ASN][1000 genomes]
rs1783140	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783141	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1783147	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783148	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1783153	0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783154	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783155	0.84[ASN][1000 genomes]
rs1783157	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783158	0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783159	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783161	0.84[ASN][1000 genomes]
rs1783162	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783166	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783167	0.86[ASN][1000 genomes]
rs1783168	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783169	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783170	0.86[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783171	0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783172	0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783173	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783174	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783175	0.88[ASN][1000 genomes]
rs1892759	0.82[JPT][hapmap]
rs1892760	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2022934	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2022935	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2154658	0.82[JPT][hapmap]
rs2154660	0.95[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236627	0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2236628	1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[ASN][1000 genomes]
rs2607624	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2607625	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2607627	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607628	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607629	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607630	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607631	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607632	0.81[ASN][1000 genomes]
rs2607633	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs2607635	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs2607636	0.81[ASN][1000 genomes]
rs2703382	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[ASN][1000 genomes]
rs2703384	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs2703386	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2703387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703388	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs2703389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844231	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2844234	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[ASN][1000 genomes]
rs2844235	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[MKK][hapmap];0.92[ASN][1000 genomes]
rs2844236	1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[ASN][1000 genomes]
rs2844254	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2844255	0.81[ASN][1000 genomes]
rs2844256	0.81[ASN][1000 genomes]
rs2844257	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2844258	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2844259	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2844260	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844261	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs3808380	0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4529437	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs6995356	0.85[ASN][1000 genomes]
rs7006166	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7011340	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7011803	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs720139	0.86[ASN][1000 genomes]
rs720140	0.86[ASN][1000 genomes]
rs730885	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs753995	0.95[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7818726	0.96[ASN][1000 genomes]
rs7821242	0.88[ASN][1000 genomes]
rs897840	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs897842	0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs930877	0.81[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2703377	PKHD1L1	cis	lymphoblastoid	seeQTL
rs2703377	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2703377	SYBU	cis	cerebellum	SCAN
rs2703377	PKHD1L1	cis	multi-tissue	Pritchard
rs2703377	PKHD1L1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:110553000-110569800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:110553000-110570000	Weak transcription	Lung	lung
4	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
6	chr8:110553400-110566600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:110553400-110569800	Weak transcription	Osteobl	bone
8	chr8:110553800-110566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:110553800-110566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:110553800-110569600	Weak transcription	Fetal Kidney	kidney
11	chr8:110553800-110569800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:110553800-110613000	Weak transcription	NHLF	lung
13	chr8:110554000-110566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:110554000-110567000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:110554000-110567000	Weak transcription	NH-A	brain
16	chr8:110554000-110567800	Weak transcription	Fetal Thymus	thymus
17	chr8:110554000-110569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:110554000-110569600	Weak transcription	Fetal Brain Female	brain
19	chr8:110554000-110569800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:110554000-110569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:110554000-110569800	Weak transcription	Fetal Brain Male	brain
22	chr8:110554000-110569800	Weak transcription	Left Ventricle	heart
23	chr8:110554000-110569800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:110554000-110569800	Weak transcription	Small Intestine	intestine
25	chr8:110554000-110569800	Weak transcription	Thymus	Thymus
26	chr8:110554000-110570000	Weak transcription	Fetal Stomach	stomach
27	chr8:110554000-110570000	Weak transcription	Right Ventricle	heart
28	chr8:110554000-110571400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:110554000-110571400	Weak transcription	Pancreas	Pancrea
30	chr8:110554000-110583000	Weak transcription	HMEC	breast
31	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
32	chr8:110554200-110566600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:110554200-110567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:110554200-110569800	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:110554200-110569800	Weak transcription	HSMMtube	muscle
36	chr8:110554200-110576000	Weak transcription	Brain Substantia Nigra	brain
37	chr8:110554400-110566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:110554400-110566800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:110554600-110566800	Weak transcription	A549	lung
40	chr8:110554600-110569200	Weak transcription	Fetal Heart	heart
41	chr8:110554600-110569800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:110555200-110566200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:110555200-110568600	Weak transcription	HepG2	liver
44	chr8:110555200-110579200	Weak transcription	Brain Angular Gyrus	brain
45	chr8:110555600-110566800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:110556800-110567000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:110558600-110569400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:110558800-110566200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:110558800-110566800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links