Variant report

Variant	rs34147744
Chromosome Location	chr8:110643236-110643237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110626045..110628361-chr8:110643151..110644803,2	MCF-7	breast:
2	chr8:110640096..110643423-chr8:110647995..110651502,3	K562	blood:
3	chr8:110639830..110641463-chr8:110642353..110644187,2	K562	blood:
4	chr8:110634308..110638739-chr8:110641463..110645115,4	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10100734	0.86[EUR][1000 genomes]
rs13253969	0.85[ASN][1000 genomes]
rs13254530	0.85[ASN][1000 genomes]
rs13254967	0.85[ASN][1000 genomes]
rs13270118	0.83[EUR][1000 genomes]
rs16879844	0.85[ASN][1000 genomes]
rs1892758	0.85[ASN][1000 genomes]
rs1954713	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954714	0.85[ASN][1000 genomes]
rs2022930	0.85[ASN][1000 genomes]
rs2154656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2154658	0.86[EUR][1000 genomes]
rs2236627	0.85[EUR][1000 genomes]
rs2703379	0.85[ASN][1000 genomes]
rs2703380	0.85[ASN][1000 genomes]
rs2703381	0.85[ASN][1000 genomes]
rs2703383	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703390	0.85[EUR][1000 genomes]
rs2703391	0.85[ASN][1000 genomes]
rs2844238	0.85[ASN][1000 genomes]
rs2844239	0.85[ASN][1000 genomes]
rs2844240	0.85[ASN][1000 genomes]
rs2844241	0.85[ASN][1000 genomes]
rs2844242	0.85[ASN][1000 genomes]
rs2844243	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844244	0.85[ASN][1000 genomes]
rs2844245	0.85[ASN][1000 genomes]
rs2844246	0.85[ASN][1000 genomes]
rs2844247	0.85[ASN][1000 genomes]
rs2844248	0.85[ASN][1000 genomes]
rs2844249	0.86[ASN][1000 genomes]
rs2844250	0.85[ASN][1000 genomes]
rs3108830	1.00[EUR][1000 genomes]
rs3108834	0.83[EUR][1000 genomes]
rs3108835	0.97[EUR][1000 genomes]
rs3108836	0.83[EUR][1000 genomes]
rs3108841	0.94[EUR][1000 genomes]
rs3108855	0.82[EUR][1000 genomes]
rs3108867	1.00[EUR][1000 genomes]
rs3133920	0.86[EUR][1000 genomes]
rs3133923	1.00[EUR][1000 genomes]
rs3133931	0.83[EUR][1000 genomes]
rs3133932	0.83[EUR][1000 genomes]
rs3133933	0.83[EUR][1000 genomes]
rs3133938	0.81[EUR][1000 genomes]
rs3133939	0.81[EUR][1000 genomes]
rs3134316	1.00[EUR][1000 genomes]
rs3134318	1.00[EUR][1000 genomes]
rs3134326	0.86[EUR][1000 genomes]
rs3134328	0.86[EUR][1000 genomes]
rs3134329	0.86[EUR][1000 genomes]
rs3134332	0.82[EUR][1000 genomes]
rs3134333	0.81[EUR][1000 genomes]
rs3134335	0.94[EUR][1000 genomes]
rs3134336	0.81[EUR][1000 genomes]
rs3134337	0.81[EUR][1000 genomes]
rs3134338	0.91[EUR][1000 genomes]
rs3134342	0.82[EUR][1000 genomes]
rs34649979	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35642643	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4367512	0.84[ASN][1000 genomes]
rs61152293	0.85[ASN][1000 genomes]
rs6469270	0.85[ASN][1000 genomes]
rs6469271	0.85[ASN][1000 genomes]
rs6469272	0.85[ASN][1000 genomes]
rs6469273	0.85[ASN][1000 genomes]
rs6469274	0.84[ASN][1000 genomes]
rs6982034	0.85[ASN][1000 genomes]
rs6994349	0.84[ASN][1000 genomes]
rs7003380	0.83[ASN][1000 genomes]
rs7003744	0.84[ASN][1000 genomes]
rs71526740	1.00[EUR][1000 genomes]
rs7813979	0.82[ASN][1000 genomes]
rs7825702	0.85[ASN][1000 genomes]
rs9656885	0.87[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
rs34147744	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 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	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:110629800-110651800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:110631600-110652000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:110633200-110645000	Weak transcription	Pancreas	Pancrea
10	chr8:110633200-110656000	Weak transcription	Gastric	stomach
11	chr8:110634000-110650000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:110634000-110650400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:110635400-110651200	Weak transcription	Fetal Brain Male	brain
14	chr8:110638000-110643600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:110638200-110645000	Weak transcription	NHEK	skin
16	chr8:110640200-110652000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:110641800-110645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:110641800-110647600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:110641800-110651200	Weak transcription	Stomach Mucosa	stomach
21	chr8:110641800-110651600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:110642800-110643400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:110643000-110643800	Strong transcription	Liver	Liver
24	chr8:110643000-110644000	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:110643000-110644600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:110643200-110643800	Enhancers	Colon Smooth Muscle	Colon

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