Variant report

Variant	rs9584547
Chromosome Location	chr13:97971997-97971998
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	chr13:97964833..97966698-chr13:97969721..97972103,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1390696	0.82[ASW][hapmap]
rs16952071	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17190203	0.95[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17190210	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17268915	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17268922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974085	0.84[TSI][hapmap]
rs2220971	0.95[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs3825422	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4578507	0.82[ASW][hapmap];0.87[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4771992	0.84[TSI][hapmap]
rs55684003	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59036109	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59512800	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59788734	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60452878	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60805672	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72637476	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7318821	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7333641	0.89[ASW][hapmap];0.91[CEU][hapmap];0.85[GIH][hapmap];0.81[LWK][hapmap]
rs7358848	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8000986	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9300404	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9554389	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9556698	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9556704	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9582124	0.95[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9584549	0.87[CEU][hapmap];0.87[LWK][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9584554	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9584555	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9584556	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9584559	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9584560	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9584564	0.81[AMR][1000 genomes];0.88[EUR][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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9584547	OXGR1	cis	parietal	SCAN
rs9584547	SLC35F2	trans	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97925800-97987200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
3	chr13:97954400-97986200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:97955000-97987000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:97955200-97986800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:97959400-97988800	Weak transcription	Fetal Intestine Large	intestine
7	chr13:97961000-97973800	Weak transcription	NHEK	skin
8	chr13:97961400-97975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:97961400-97987200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:97961600-97975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:97961800-97975200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:97961800-97977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:97961800-97978000	Weak transcription	HMEC	breast
14	chr13:97962000-97979200	Weak transcription	HUVEC	blood vessel
15	chr13:97962000-97991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:97962400-97978200	Weak transcription	K562	blood
17	chr13:97963000-97972600	Enhancers	Brain Substantia Nigra	brain
18	chr13:97963000-97984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:97963600-97977000	Weak transcription	Hela-S3	cervix
20	chr13:97965000-97972600	Enhancers	Brain Hippocampus Middle	brain
21	chr13:97965200-97985800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:97965600-97988800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:97965800-97987200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr13:97967000-97980400	Weak transcription	Fetal Thymus	thymus
25	chr13:97967400-97972600	Enhancers	Colon Smooth Muscle	Colon
26	chr13:97967400-97991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:97967600-97972600	Enhancers	Brain Cingulate Gyrus	brain
28	chr13:97968000-97972000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr13:97968000-97972600	Enhancers	Brain Anterior Caudate	brain
30	chr13:97968200-97972600	Enhancers	Fetal Muscle Leg	muscle
31	chr13:97969200-97972000	Enhancers	Fetal Lung	lung
32	chr13:97969200-97972000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr13:97969200-97979200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:97969400-97972200	Enhancers	Brain Angular Gyrus	brain
35	chr13:97969400-97981600	Weak transcription	Spleen	Spleen
36	chr13:97969400-97981800	Weak transcription	Esophagus	oesophagus
37	chr13:97969600-97982000	Weak transcription	Primary B cells from cord blood	blood
38	chr13:97969600-97987200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:97969800-97986600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr13:97970200-97972000	Enhancers	Stomach Smooth Muscle	stomach
41	chr13:97970200-97972200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:97970200-97972200	Enhancers	NHLF	lung
43	chr13:97970400-97972200	Enhancers	A549	lung
44	chr13:97970600-97972000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr13:97970600-97972000	Enhancers	Ovary	ovary
46	chr13:97970600-97972000	Enhancers	NHDF-Ad	bronchial
47	chr13:97971000-97972000	Genic enhancers	Liver	Liver
48	chr13:97971200-97972000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:97971200-97972400	Enhancers	Duodenum Mucosa	Duodenum
50	chr13:97971200-97972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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