Variant report

Variant	rs2844231
Chromosome Location	chr8:110569827-110569828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110569816..110571578-chr8:110666909..110668539,2	MCF-7	breast:
2	chr8:110569418..110572612-chr8:110654635..110657421,3	MCF-7	breast:
3	chr8:110549575..110553819-chr8:110567955..110572978,5	K562	blood:
4	chr8:110569816..110571447-chr8:110572078..110574327,2	K562	blood:
5	chr8:110569733..110571848-chr8:110575004..110576852,2	K562	blood:
6	chr8:110345563..110348086-chr8:110569679..110571779,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10088258	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10088612	0.89[ASN][1000 genomes]
rs10088684	0.89[ASN][1000 genomes]
rs1009371	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10108943	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10111682	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1013482	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1026437	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1044230	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10505133	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249244	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13439318	0.89[ASN][1000 genomes]
rs13439864	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1379361	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1379366	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1379367	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1457282	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1457283	0.82[ASN][1000 genomes]
rs1457288	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1457294	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1457295	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563578	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563580	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1617259	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1617350	0.89[ASN][1000 genomes]
rs1630134	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1630942	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673383	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673384	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673386	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673389	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673395	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673399	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673409	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673410	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673411	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673412	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs1673413	0.90[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673415	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673416	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673419	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673420	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673421	0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673422	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1673424	0.87[ASN][1000 genomes]
rs1673425	0.87[ASN][1000 genomes]
rs1673426	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673427	0.88[ASN][1000 genomes]
rs1673428	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17377636	0.91[ASN][1000 genomes]
rs17449762	0.91[ASN][1000 genomes]
rs1783140	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783141	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1783147	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783148	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1783153	0.95[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783154	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783155	0.87[ASN][1000 genomes]
rs1783157	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783158	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783159	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783161	0.87[ASN][1000 genomes]
rs1783162	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783166	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783167	0.88[ASN][1000 genomes]
rs1783168	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783169	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783170	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1783171	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783172	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783173	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1783174	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783175	0.91[ASN][1000 genomes]
rs1892759	0.89[JPT][hapmap]
rs1892760	0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs2022934	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022935	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2154658	0.89[JPT][hapmap]
rs2154660	0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2236627	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2236628	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2607624	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607625	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607628	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607629	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607630	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607631	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2607632	0.84[ASN][1000 genomes]
rs2607633	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2607635	0.88[JPT][hapmap]
rs2607636	0.84[ASN][1000 genomes]
rs2703377	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2703382	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2703384	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2703386	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]
rs2703387	0.95[ASN][1000 genomes]
rs2703388	0.80[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2703389	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2844234	0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs2844235	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844236	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844254	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844255	0.84[ASN][1000 genomes]
rs2844256	0.83[ASN][1000 genomes]
rs2844257	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844258	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844259	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2844260	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844261	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3808380	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4529437	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6995356	0.88[ASN][1000 genomes]
rs7006166	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7011340	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7011803	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs720139	0.89[ASN][1000 genomes]
rs720140	0.89[ASN][1000 genomes]
rs730885	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs753995	0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7818726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821242	0.91[ASN][1000 genomes]
rs897840	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs897842	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs930877	0.84[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2844231	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2844231	PKHD1L1	cis	multi-tissue	Pritchard
rs2844231	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110570000	Weak transcription	Lung	lung
2	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
4	chr8:110553800-110613000	Weak transcription	NHLF	lung
5	chr8:110554000-110570000	Weak transcription	Fetal Stomach	stomach
6	chr8:110554000-110570000	Weak transcription	Right Ventricle	heart
7	chr8:110554000-110571400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:110554000-110571400	Weak transcription	Pancreas	Pancrea
9	chr8:110554000-110583000	Weak transcription	HMEC	breast
10	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
11	chr8:110554200-110576000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:110555200-110579200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach
14	chr8:110562200-110570000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:110562800-110577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:110563000-110578000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:110563000-110580000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:110563000-110586800	Weak transcription	Spleen	Spleen
19	chr8:110563200-110577800	Strong transcription	Dnd41	blood
20	chr8:110563600-110577600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:110563600-110580400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:110564200-110577400	Strong transcription	Primary B cells from cord blood	blood
23	chr8:110564400-110587200	Weak transcription	Colonic Mucosa	Colon
24	chr8:110564600-110570600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:110565000-110570000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:110565000-110570600	Strong transcription	K562	blood
27	chr8:110565000-110571000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:110565000-110573000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:110565000-110573400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr8:110565000-110578200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:110565200-110570400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:110565400-110570600	Strong transcription	HSMM	muscle
33	chr8:110565400-110573400	Strong transcription	Liver	Liver
34	chr8:110565400-110580200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:110565600-110570000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:110565600-110570000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:110565600-110570600	Strong transcription	Placenta	Placenta
38	chr8:110565600-110577400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:110565800-110571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:110565800-110573200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr8:110565800-110586800	Weak transcription	NHEK	skin
42	chr8:110566000-110570600	Strong transcription	Fetal Lung	lung
43	chr8:110566000-110577800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:110566200-110573200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:110566400-110570600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:110566400-110571400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:110566600-110570600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:110566800-110570600	Strong transcription	A549	lung
49	chr8:110566800-110571000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:110566800-110571800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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