Variant report

Variant	rs17252193
Chromosome Location	chr13:51958118-51958119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11148219	0.82[JPT][hapmap]
rs1547710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17252166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17252173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17252180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17252200	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17837214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17837215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17837216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17837217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4941699	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4942995	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4942996	0.82[JPT][hapmap]
rs4942999	0.82[JPT][hapmap]
rs57845363	0.81[ASN][1000 genomes]
rs61749884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330735	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74087486	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984158	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7992891	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs7995478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7995885	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8000429	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8000433	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001333	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8002112	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9563049	0.82[JPT][hapmap]
rs9563055	0.82[JPT][hapmap]
rs9568580	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs9568586	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs9568631	0.86[CHB][hapmap]
rs9591402	0.82[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17252193	Hs.123474	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51934200-51958400	Strong transcription	Placenta	Placenta
2	chr13:51934200-51959800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:51934400-51963800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:51935400-51959600	Strong transcription	GM12878-XiMat	blood
5	chr13:51935600-51971400	Weak transcription	Gastric	stomach
6	chr13:51935800-51962000	Strong transcription	Dnd41	blood
7	chr13:51936200-51963600	Strong transcription	Liver	Liver
8	chr13:51936400-51966000	Weak transcription	Right Ventricle	heart
9	chr13:51937400-51961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:51938200-51960000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:51938400-51959200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr13:51938400-51959600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:51938600-51959400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:51938600-51960400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr13:51938600-51961800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr13:51939200-51970600	Weak transcription	Brain Angular Gyrus	brain
17	chr13:51939400-51962200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:51940400-51959200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:51944800-51959600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:51944800-51964200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:51945000-51960400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr13:51945000-51964400	Strong transcription	HSMM	muscle
23	chr13:51945200-51970600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:51945200-51971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:51945400-51970600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr13:51945600-51961600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:51945800-51961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:51945800-52016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:51946200-51959200	Weak transcription	Aorta	Aorta
30	chr13:51946200-51959600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:51946200-51960200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:51946200-51963200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:51946200-51988000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:51946400-51971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr13:51946600-51963600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:51946800-51959000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:51946800-51959600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr13:51947000-51963600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:51947000-51970800	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:51948000-51960800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:51948000-51970800	Weak transcription	A549	lung
42	chr13:51948000-51971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:51948600-51962800	Weak transcription	Brain Anterior Caudate	brain
44	chr13:51948600-51971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:51948600-51971600	Weak transcription	Small Intestine	intestine
46	chr13:51949000-51966400	Weak transcription	Psoas Muscle	Psoas
47	chr13:51949000-51971400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:51949400-51959400	Weak transcription	Spleen	Spleen
49	chr13:51949400-51960600	Weak transcription	Ovary	ovary
50	chr13:51949400-51961200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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