Variant report

Variant	rs11550169
Chromosome Location	chr8:110283256-110283257
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	chr8:110282798..110284490-chr8:110290384..110293883,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093885	1.00[JPT][hapmap]
rs10100944	1.00[JPT][hapmap]
rs11778756	1.00[JPT][hapmap]
rs11785973	1.00[JPT][hapmap]
rs13438836	1.00[JPT][hapmap]
rs1563581	1.00[JPT][hapmap]
rs17368044	1.00[JPT][hapmap]
rs17445342	1.00[JPT][hapmap]
rs17446406	1.00[JPT][hapmap]
rs34660136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55882832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469255	1.00[JPT][hapmap]
rs6982826	1.00[JPT][hapmap]
rs6999170	1.00[JPT][hapmap]
rs7008687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7816624	1.00[JPT][hapmap]
rs7820734	1.00[JPT][hapmap]
rs7835131	1.00[JPT][hapmap]
rs9656791	1.00[JPT][hapmap]
rs9656881	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	nsv515589	chr8:110268104-110300579	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11550169	PKHD1L1	cis	lymphoblastoid	seeQTL

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	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
3	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110237000-110283800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:110238200-110286600	Weak transcription	Ovary	ovary
8	chr8:110241800-110295600	Weak transcription	Psoas Muscle	Psoas
9	chr8:110242000-110283600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:110242200-110289800	Weak transcription	Colonic Mucosa	Colon
11	chr8:110242400-110305000	Weak transcription	NHLF	lung
12	chr8:110242600-110291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:110242800-110285000	Weak transcription	Esophagus	oesophagus
14	chr8:110243200-110291000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:110249200-110291600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:110252400-110286600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:110252400-110304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:110252800-110299600	Weak transcription	Fetal Kidney	kidney
20	chr8:110255600-110283600	Weak transcription	K562	blood
21	chr8:110255600-110291200	Weak transcription	Fetal Thymus	thymus
22	chr8:110255600-110305400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:110256600-110284800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:110257800-110283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:110257800-110283600	Weak transcription	NHDF-Ad	bronchial
26	chr8:110258000-110283600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:110258200-110286400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:110258400-110311200	Weak transcription	Lung	lung
29	chr8:110260000-110294000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:110262800-110284800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:110265000-110283600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:110265000-110283600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:110265000-110299600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:110265400-110285000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:110265400-110286400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:110267400-110283600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:110267400-110285000	Weak transcription	Fetal Intestine Small	intestine
38	chr8:110273000-110283600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:110273400-110295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:110274800-110301000	Weak transcription	Aorta	Aorta
41	chr8:110275000-110283400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:110275000-110283600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:110275000-110292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:110275000-110295400	Weak transcription	NHEK	skin
45	chr8:110275000-110304400	Weak transcription	Osteobl	bone
46	chr8:110275200-110284800	Weak transcription	Left Ventricle	heart
47	chr8:110275200-110291200	Weak transcription	Fetal Stomach	stomach
48	chr8:110275600-110294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:110275600-110299600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:110276000-110283600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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