Variant report

Variant	rs2844234
Chromosome Location	chr8:110582366-110582367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110580193..110582706-chr8:110638450..110640225,2	MCF-7	breast:
2	chr8:110580079..110582985-chr8:110591236..110593474,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10088258	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs10088612	0.83[ASN][1000 genomes]
rs10088684	0.83[ASN][1000 genomes]
rs1009371	0.82[CHB][hapmap]
rs10108943	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs10111682	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs1013482	0.82[CHB][hapmap]
rs1026437	0.82[CHB][hapmap]
rs1044230	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[ASN][1000 genomes]
rs10505133	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs13249244	0.82[ASN][1000 genomes]
rs13439318	0.83[ASN][1000 genomes]
rs13439864	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs1379361	0.82[CHB][hapmap]
rs1379366	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1379367	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1457282	0.82[CHB][hapmap]
rs1457288	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1457294	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1457295	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1563578	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1563580	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs1617259	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1617350	0.83[ASN][1000 genomes]
rs1630134	0.82[CHB][hapmap]
rs1630942	0.82[CHB][hapmap]
rs1673383	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673384	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673386	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs1673389	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673395	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673399	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673409	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1673410	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1673411	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1673412	0.90[CHB][hapmap]
rs1673413	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1673415	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1673416	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1673419	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1673420	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs1673422	0.86[CHB][hapmap]
rs1673426	0.82[CHB][hapmap]
rs1673427	0.82[ASN][1000 genomes]
rs1673428	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs17377636	0.82[ASN][1000 genomes]
rs17449762	0.82[ASN][1000 genomes]
rs1783140	0.81[CHB][hapmap]
rs1783141	0.86[CHB][hapmap]
rs1783147	0.82[CHB][hapmap]
rs1783148	0.82[CHB][hapmap]
rs1783153	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs1783154	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1783157	0.82[CHB][hapmap]
rs1783158	0.81[CHB][hapmap]
rs1783159	0.82[CHB][hapmap]
rs1783162	0.82[CHB][hapmap]
rs1783166	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1783167	0.82[ASN][1000 genomes]
rs1783168	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1783169	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1783170	0.81[ASN][1000 genomes]
rs1783171	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1783172	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1783173	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1783174	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1783175	0.82[ASN][1000 genomes]
rs1892760	0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2022934	0.82[CHB][hapmap];0.80[CHD][hapmap];0.89[ASN][1000 genomes]
rs2022935	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs2154660	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2236627	0.89[ASN][1000 genomes]
rs2236628	0.90[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607624	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2607625	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2607627	0.82[CHB][hapmap]
rs2607628	0.82[CHB][hapmap]
rs2607629	0.82[CHB][hapmap]
rs2607631	0.82[CHB][hapmap]
rs2607633	0.82[CHB][hapmap]
rs2703377	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[ASN][1000 genomes]
rs2703382	0.90[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703384	0.82[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2703386	0.82[CHB][hapmap];0.80[CHD][hapmap];0.89[ASN][1000 genomes]
rs2703387	0.92[ASN][1000 genomes]
rs2703388	0.86[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703389	0.90[CHB][hapmap];0.92[ASN][1000 genomes]
rs2844231	0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs2844235	0.94[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844236	0.90[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844254	0.82[CHB][hapmap]
rs2844257	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2844258	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2844259	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2844260	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs2844261	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs3808380	0.81[ASN][1000 genomes]
rs4529437	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs7006166	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7011340	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7011803	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs720139	0.81[ASN][1000 genomes]
rs720140	0.81[ASN][1000 genomes]
rs730885	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs753995	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7818726	0.90[ASN][1000 genomes]
rs7821242	0.82[ASN][1000 genomes]
rs897840	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs897842	0.86[CHB][hapmap];0.82[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2844234	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2844234	TRHR	cis	parietal	SCAN
rs2844234	ZFPM2	cis	cerebellum	SCAN
rs2844234	PKHD1L1	cis	multi-tissue	Pritchard
rs2844234	EBAG9	cis	lymphoblastoid	seeQTL
rs2844234	PKHD1L1	cis	lymphoblastoid	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
2	chr8:110553800-110613000	Weak transcription	NHLF	lung
3	chr8:110554000-110583000	Weak transcription	HMEC	breast
4	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
5	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach
6	chr8:110563000-110586800	Weak transcription	Spleen	Spleen
7	chr8:110564400-110587200	Weak transcription	Colonic Mucosa	Colon
8	chr8:110565800-110586800	Weak transcription	NHEK	skin
9	chr8:110567000-110593200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:110567800-110587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:110568000-110586800	Weak transcription	Gastric	stomach
12	chr8:110569400-110586600	Weak transcription	Fetal Heart	heart
13	chr8:110570400-110586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:110570400-110586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:110570400-110587000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:110570400-110593600	Weak transcription	Fetal Brain Male	brain
17	chr8:110570600-110583000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:110570600-110583000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:110570600-110586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:110571000-110582600	Weak transcription	Brain Germinal Matrix	brain
21	chr8:110571000-110583200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:110571000-110589200	Weak transcription	Hela-S3	cervix
23	chr8:110571000-110589200	Weak transcription	NH-A	brain
24	chr8:110571600-110591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:110571600-110592800	Weak transcription	Small Intestine	intestine
26	chr8:110571800-110582600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:110571800-110582600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:110571800-110586800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:110572000-110586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:110572000-110586800	Weak transcription	Fetal Intestine Small	intestine
31	chr8:110572000-110586800	Weak transcription	Pancreas	Pancrea
32	chr8:110572000-110587200	Weak transcription	Fetal Stomach	stomach
33	chr8:110572000-110589000	Weak transcription	Aorta	Aorta
34	chr8:110572600-110582400	Weak transcription	HepG2	liver
35	chr8:110572800-110586600	Weak transcription	GM12878-XiMat	blood
36	chr8:110573000-110587200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:110573200-110583400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:110573200-110586800	Weak transcription	Fetal Brain Female	brain
39	chr8:110573200-110587800	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:110576000-110586800	Weak transcription	Ovary	ovary
41	chr8:110576200-110582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:110576200-110586800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:110576200-110587200	Weak transcription	Right Ventricle	heart
44	chr8:110576200-110590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:110577000-110582400	Weak transcription	NHDF-Ad	bronchial
46	chr8:110577000-110583000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:110577000-110586200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:110577000-110586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:110577000-110586800	Weak transcription	HSMMtube	muscle
50	chr8:110577000-110587200	Weak transcription	Fetal Muscle Leg	muscle

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