Variant report

Variant	rs13254967
Chromosome Location	chr8:110635338-110635339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:
2	chr8:110624537..110626849-chr8:110632581..110635430,2	K562	blood:
3	chr8:110634308..110638739-chr8:110641463..110645115,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10095412	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253969	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254530	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879844	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892758	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954713	0.85[ASN][1000 genomes]
rs1954714	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022930	0.99[ASN][1000 genomes]
rs2154656	0.87[ASN][1000 genomes]
rs2703379	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703380	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703381	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703383	0.85[ASN][1000 genomes]
rs2703391	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844238	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844239	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844240	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844241	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844242	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844243	0.85[ASN][1000 genomes]
rs2844244	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844245	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844246	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844247	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844248	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844249	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844250	0.99[ASN][1000 genomes]
rs34147744	0.85[ASN][1000 genomes]
rs35642643	0.84[ASN][1000 genomes]
rs4367512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61152293	0.99[ASN][1000 genomes]
rs6469270	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469271	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469272	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469273	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469274	0.98[ASN][1000 genomes]
rs6982034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003380	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825702	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13254967	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
4	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
5	chr8:110623000-110637800	Weak transcription	Left Ventricle	heart
6	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:110627200-110638800	Weak transcription	Right Atrium	heart
9	chr8:110627600-110638800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:110629800-110651800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:110631400-110635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:110631600-110652000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:110633200-110645000	Weak transcription	Pancreas	Pancrea
14	chr8:110633200-110656000	Weak transcription	Gastric	stomach
15	chr8:110633800-110636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:110633800-110637000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:110633800-110639400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:110634000-110636600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:110634000-110636600	Weak transcription	Liver	Liver
20	chr8:110634000-110639400	Weak transcription	NHDF-Ad	bronchial
21	chr8:110634000-110650000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:110634000-110650400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:110634200-110636400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:110634200-110636800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:110634200-110636800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:110634200-110637000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:110634200-110637600	Weak transcription	HMEC	breast
28	chr8:110634200-110641000	Weak transcription	Stomach Mucosa	stomach
29	chr8:110634200-110641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:110634200-110643000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:110634800-110636800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:110635200-110635400	Enhancers	Fetal Brain Male	brain
33	chr8:110635200-110636600	Weak transcription	NHEK	skin

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