Variant report

Variant	rs1531298
Chromosome Location	chr8:110256090-110256091
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	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10087444	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10090944	0.84[ASN][1000 genomes]
rs10108349	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1380096	0.86[JPT][hapmap]
rs1380097	0.86[JPT][hapmap]
rs1458915	0.86[JPT][hapmap]
rs1458916	0.86[JPT][hapmap]
rs1458917	0.86[JPT][hapmap]
rs1458923	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548082	0.84[JPT][hapmap]
rs1548083	0.85[JPT][hapmap]
rs1947629	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993594	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054257	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2125511	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125513	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168964	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926195	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926196	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926197	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926198	0.86[JPT][hapmap]
rs2926201	0.81[ASN][1000 genomes]
rs2926208	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926244	0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926245	0.86[JPT][hapmap]
rs2926247	0.85[JPT][hapmap]
rs2926259	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926263	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926265	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926269	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926277	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980565	0.85[JPT][hapmap]
rs2980589	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980591	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980602	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980603	0.86[JPT][hapmap]
rs2980606	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980611	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980618	0.80[JPT][hapmap]
rs2980619	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980620	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980621	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980623	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980624	0.86[JPT][hapmap]
rs2980627	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980628	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980630	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980632	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980636	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980637	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980639	0.85[JPT][hapmap]
rs3116095	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134105	0.91[YRI][hapmap]
rs4236802	0.84[YRI][hapmap]
rs4734194	0.85[ASN][1000 genomes]
rs4734195	0.85[ASN][1000 genomes]
rs4734206	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734208	0.86[EUR][1000 genomes]
rs4735092	0.91[YRI][hapmap]
rs4735093	0.84[YRI][hapmap]
rs4735117	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735119	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56247307	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469235	0.84[ASN][1000 genomes]
rs6469241	0.86[ASN][1000 genomes]
rs6469248	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469249	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996836	0.83[ASN][1000 genomes]
rs7003376	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7003806	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7009169	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7012304	0.92[ASN][1000 genomes]
rs720574	0.81[JPT][hapmap]
rs7819201	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839867	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891272	chr8:110217266-110268104	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv891277	chr8:110251998-110300579	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv891278	chr8:110251998-110308776	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1531298	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110234800-110264200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:110235400-110271400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:110235400-110275000	Weak transcription	Fetal Brain Male	brain
5	chr8:110236000-110264200	Weak transcription	Spleen	Spleen
6	chr8:110236000-110265400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:110236200-110264200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
9	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:110236400-110257400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:110236600-110264200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:110237000-110283800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:110237200-110271400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:110237600-110259200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:110237800-110264200	Weak transcription	Fetal Lung	lung
17	chr8:110237800-110271400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:110238200-110264200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:110238200-110286600	Weak transcription	Ovary	ovary
21	chr8:110239200-110257600	Weak transcription	Lung	lung
22	chr8:110239600-110274400	Weak transcription	Pancreas	Pancrea
23	chr8:110240400-110274800	Weak transcription	Small Intestine	intestine
24	chr8:110241800-110256200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:110241800-110295600	Weak transcription	Psoas Muscle	Psoas
26	chr8:110242000-110274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:110242000-110274600	Weak transcription	HSMMtube	muscle
28	chr8:110242000-110283600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:110242200-110266200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:110242200-110274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:110242200-110289800	Weak transcription	Colonic Mucosa	Colon
32	chr8:110242400-110274200	Weak transcription	NH-A	brain
33	chr8:110242400-110274400	Weak transcription	Gastric	stomach
34	chr8:110242400-110282800	Weak transcription	A549	lung
35	chr8:110242400-110305000	Weak transcription	NHLF	lung
36	chr8:110242600-110291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:110242800-110285000	Weak transcription	Esophagus	oesophagus
38	chr8:110243200-110291000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:110244600-110257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:110244600-110280600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:110244800-110264200	Weak transcription	Aorta	Aorta
42	chr8:110244800-110274600	Weak transcription	NHEK	skin
43	chr8:110245600-110274400	Weak transcription	Fetal Stomach	stomach
44	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:110249200-110291600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:110249600-110274400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:110249800-110257600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:110250400-110257800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:110251000-110259600	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:110251200-110258000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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