Variant report

Variant	rs2703384
Chromosome Location	chr8:110600059-110600060
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110599959..110602833-chr8:110655392..110657661,3	MCF-7	breast:
2	chr8:110599166..110601638-chr8:110601697..110603770,2	MCF-7	breast:
3	chr8:110599717..110603274-chr8:110604163..110606425,3	MCF-7	breast:
4	chr8:110591024..110592683-chr8:110599312..110601179,2	K562	blood:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10088258	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10088612	0.85[ASN][1000 genomes]
rs10088684	0.85[ASN][1000 genomes]
rs1009371	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs10108943	0.95[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10111682	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1013482	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs1026437	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1044230	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505133	0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs13249244	0.85[ASN][1000 genomes]
rs13439318	0.85[ASN][1000 genomes]
rs13439864	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1379361	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1379366	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1379367	0.95[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1457282	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1457288	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1457294	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1457295	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs1563578	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1563580	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1617259	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1617350	0.85[ASN][1000 genomes]
rs1630134	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1630942	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1673383	0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673384	0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673386	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1673389	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673395	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673399	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1673409	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673410	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673411	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673412	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs1673413	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673415	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673416	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1673419	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673420	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673421	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs1673422	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs1673424	0.81[ASN][1000 genomes]
rs1673425	0.81[ASN][1000 genomes]
rs1673426	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673427	0.84[ASN][1000 genomes]
rs1673428	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs17377636	0.85[ASN][1000 genomes]
rs17449762	0.85[ASN][1000 genomes]
rs1783140	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1783141	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs1783147	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1783148	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1783153	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1783154	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783155	0.82[ASN][1000 genomes]
rs1783157	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1783158	0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1783159	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1783161	0.81[ASN][1000 genomes]
rs1783162	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783166	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783167	0.84[ASN][1000 genomes]
rs1783168	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783169	0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783170	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783171	0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783172	0.87[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783173	0.87[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783174	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783175	0.85[ASN][1000 genomes]
rs1892759	0.94[JPT][hapmap]
rs1892760	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2022934	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2022935	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2154658	0.94[JPT][hapmap]
rs2154660	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2236627	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2236628	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2607624	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607625	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607627	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2607628	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2607629	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2607630	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2607631	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2607633	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2607635	0.81[JPT][hapmap]
rs2703377	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs2703382	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2703386	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2703387	0.89[ASN][1000 genomes]
rs2703388	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2703389	0.87[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844231	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2844234	0.82[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2844235	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2844236	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2844254	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2844256	0.80[ASN][1000 genomes]
rs2844257	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844258	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844259	0.91[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2844260	0.87[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2844261	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3808380	0.83[JPT][hapmap]
rs4529437	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6995356	0.82[ASN][1000 genomes]
rs7006166	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs7011340	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7011803	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs720139	0.84[ASN][1000 genomes]
rs720140	0.84[ASN][1000 genomes]
rs730885	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs753995	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7818726	0.92[ASN][1000 genomes]
rs7821242	0.85[ASN][1000 genomes]
rs897840	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs897842	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2703384	PKHD1L1	cis	multi-tissue	Pritchard
rs2703384	PKHD1L1	cis	Lymphoblastoid	GTEx
rs2703384	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110583800-110601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:110588000-110600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:110588200-110601600	Weak transcription	Left Ventricle	heart
6	chr8:110589800-110601600	Weak transcription	Right Atrium	heart
7	chr8:110590000-110605600	Weak transcription	K562	blood
8	chr8:110590200-110654800	Weak transcription	Lung	lung
9	chr8:110591200-110601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:110591600-110601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:110592000-110601400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:110592200-110601600	Weak transcription	NHEK	skin
14	chr8:110592200-110604600	Weak transcription	Gastric	stomach
15	chr8:110592400-110601800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:110593600-110601400	Weak transcription	HMEC	breast
17	chr8:110594800-110606000	Weak transcription	Fetal Brain Male	brain
18	chr8:110595600-110601600	Weak transcription	Psoas Muscle	Psoas
19	chr8:110596200-110601600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:110596200-110601600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:110596800-110608400	Enhancers	Fetal Intestine Large	intestine
22	chr8:110597200-110601000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:110597200-110601400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:110597800-110601400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:110597800-110608400	Enhancers	Fetal Intestine Small	intestine
26	chr8:110598000-110600600	Weak transcription	HepG2	liver
27	chr8:110598200-110601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:110598400-110601600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:110598400-110602800	Enhancers	Liver	Liver
30	chr8:110598400-110605800	Weak transcription	Fetal Brain Female	brain
31	chr8:110598400-110607800	Weak transcription	Esophagus	oesophagus
32	chr8:110598600-110600200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:110598600-110600600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr8:110598600-110601400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:110598600-110601600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:110598600-110601800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:110598600-110603600	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:110598800-110601400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:110598800-110601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:110598800-110601400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:110598800-110601400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:110598800-110601400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:110598800-110601600	Weak transcription	Brain Anterior Caudate	brain
44	chr8:110598800-110605400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:110598800-110615000	Weak transcription	Ovary	ovary
46	chr8:110599000-110601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:110599000-110601400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:110599400-110600600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:110599400-110603200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:110599600-110600600	Weak transcription	Stomach Smooth Muscle	stomach

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