Variant report

Variant	rs10504264
Chromosome Location	chr8:59773117-59773118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59768252..59769801-chr8:59771211..59773823,2	K562	blood:
2	chr8:59766292..59767877-chr8:59770648..59773192,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11998693	0.90[EUR][1000 genomes]
rs12679949	1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16924095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924104	0.84[YRI][hapmap]
rs16924124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779998	0.92[CHB][hapmap]
rs3779999	0.83[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs57569962	0.85[ASN][1000 genomes]
rs57636927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61049278	0.85[ASN][1000 genomes]
rs6471753	0.85[ASN][1000 genomes]
rs6992117	0.92[CHB][hapmap]
rs6999284	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7008234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243052	0.84[ASN][1000 genomes]
rs73243060	0.85[ASN][1000 genomes]
rs73243092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73249047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73249050	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820385	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7826293	0.83[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10504264	FLJ31306	trans	lymphoblastoid	RTeQTL
rs10504264	C9orf84	trans	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:59764200-59777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:59767000-59773800	Enhancers	HSMM	muscle
7	chr8:59768000-59773600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:59768200-59773800	Enhancers	NH-A	brain
9	chr8:59770400-59774600	Strong transcription	Primary T cells from cord blood	blood
10	chr8:59770600-59773600	Enhancers	Fetal Heart	heart
11	chr8:59771200-59774600	Enhancers	Osteobl	bone
12	chr8:59771200-59777200	Weak transcription	Aorta	Aorta
13	chr8:59771200-59777200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:59771400-59773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:59771400-59773200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:59771400-59773400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:59771400-59773600	Weak transcription	Fetal Kidney	kidney
18	chr8:59771400-59774200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:59771400-59774400	Enhancers	NHDF-Ad	bronchial
20	chr8:59771400-59775200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:59771400-59775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:59771400-59776400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:59771400-59776400	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:59771400-59776800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:59771400-59777000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:59771400-59777200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:59771400-59777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:59771400-59777200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:59771400-59777200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:59771400-59777200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:59771400-59777200	Weak transcription	Fetal Lung	lung
32	chr8:59771400-59777400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:59771400-59777600	Weak transcription	Gastric	stomach
34	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:59771600-59773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:59771600-59773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:59771600-59773600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:59771600-59773600	Enhancers	Dnd41	blood
39	chr8:59771600-59776000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:59771600-59777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:59771600-59777000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:59771800-59774200	Strong transcription	Fetal Thymus	thymus
44	chr8:59772000-59773200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:59772000-59773800	Enhancers	K562	blood
46	chr8:59772200-59773600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:59772400-59773400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:59772400-59773800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:59772400-59777000	Weak transcription	HUVEC	blood vessel
50	chr8:59772600-59773200	Enhancers	Stomach Mucosa	stomach

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