Variant report

Variant	rs2844250
Chromosome Location	chr8:110633275-110633276
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110631150..110633770-chr8:110636453..110640817,4	K562	blood:
2	chr8:110632493..110634922-chr8:110636923..110638860,2	MCF-7	breast:
3	chr8:110633209..110635018-chr8:110656153..110657672,2	MCF-7	breast:
4	chr8:110593893..110595634-chr8:110631099..110633748,2	K562	blood:
5	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:
6	chr8:110624537..110626849-chr8:110632581..110635430,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10095412	0.91[ASN][1000 genomes]
rs10100734	0.83[EUR][1000 genomes]
rs13253969	0.99[ASN][1000 genomes]
rs13254530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13254967	0.99[ASN][1000 genomes]
rs13270118	0.81[EUR][1000 genomes]
rs16879844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1892758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1954713	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1954714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2022930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154656	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2154658	0.81[CEU][hapmap]
rs2703379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2703380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2703381	0.99[ASN][1000 genomes]
rs2703383	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2703391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844243	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2844244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2844248	0.99[ASN][1000 genomes]
rs2844249	0.98[ASN][1000 genomes]
rs3108834	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3108836	0.81[EUR][1000 genomes]
rs3108841	0.90[CEU][hapmap]
rs3108855	1.00[CEU][hapmap]
rs3133920	0.83[EUR][1000 genomes]
rs3133931	0.81[EUR][1000 genomes]
rs3133932	0.81[EUR][1000 genomes]
rs3133933	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3134326	0.83[EUR][1000 genomes]
rs3134328	0.83[EUR][1000 genomes]
rs3134329	0.83[EUR][1000 genomes]
rs3134337	1.00[CEU][hapmap]
rs34147744	0.85[ASN][1000 genomes]
rs35642643	0.85[ASN][1000 genomes]
rs4367512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs61152293	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469274	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6994349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7003380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7003744	0.99[ASN][1000 genomes]
rs7813979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7825702	0.99[ASN][1000 genomes]
rs9656885	0.97[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
rs2844250	PKHD1L1	cis	multi-tissue	Pritchard
rs2844250	PKHD1L1	cis	Lymphoblastoid	GTEx
rs2844250	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 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	chr8:110622600-110635200	Weak transcription	Fetal Brain Male	brain
6	chr8:110623000-110637800	Weak transcription	Left Ventricle	heart
7	chr8:110623400-110635200	Weak transcription	Small Intestine	intestine
8	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:110624200-110634600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
11	chr8:110626600-110633800	Weak transcription	HepG2	liver
12	chr8:110627000-110633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:110627200-110633800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:110627200-110638800	Weak transcription	Right Atrium	heart
15	chr8:110627600-110638800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:110629800-110651800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:110631400-110634200	Enhancers	Adipose Nuclei	Adipose
18	chr8:110631400-110635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:110631600-110652000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:110631800-110634200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:110632000-110633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:110632000-110634000	Enhancers	HSMMtube	muscle
23	chr8:110632200-110633400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:110632200-110634000	Enhancers	Liver	Liver
25	chr8:110632200-110634000	Enhancers	A549	lung
26	chr8:110632200-110634200	Enhancers	HMEC	breast
27	chr8:110632200-110634800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:110632600-110634000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:110632600-110634000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:110632600-110634000	Enhancers	NHDF-Ad	bronchial
31	chr8:110632600-110634400	Enhancers	Hela-S3	cervix
32	chr8:110632800-110633400	Enhancers	NHLF	lung
33	chr8:110632800-110633800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:110632800-110634000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:110632800-110634000	Enhancers	Fetal Intestine Small	intestine
36	chr8:110632800-110634000	Enhancers	HSMM	muscle
37	chr8:110632800-110634000	Flanking Active TSS	NHEK	skin
38	chr8:110632800-110634200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:110633000-110634200	Enhancers	Ovary	ovary
40	chr8:110633000-110634200	Enhancers	Stomach Mucosa	stomach
41	chr8:110633000-110634200	Enhancers	Stomach Smooth Muscle	stomach
42	chr8:110633200-110633600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:110633200-110633800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:110633200-110634000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:110633200-110634400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:110633200-110645000	Weak transcription	Pancreas	Pancrea
47	chr8:110633200-110656000	Weak transcription	Gastric	stomach

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