Variant report

Variant	rs1498364
Chromosome Location	chr1:214518638-214518639
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214518586..214520229-chr1:214524475..214526426,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10465696	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10465697	1.00[ASN][1000 genomes]
rs1048791	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11120298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11120299	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11800749	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12073421	1.00[ASN][1000 genomes]
rs1391553	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17022608	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17730755	0.86[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs17731174	1.00[JPT][hapmap]
rs17786841	0.88[EUR][1000 genomes]
rs17786949	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2047445	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35949806	1.00[ASN][1000 genomes]
rs3767842	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655243	1.00[ASN][1000 genomes]
rs4655244	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655330	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655332	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655333	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655334	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655336	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55760458	1.00[ASN][1000 genomes]
rs59864830	1.00[ASN][1000 genomes]
rs6660335	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6687629	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6695148	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72757948	0.86[EUR][1000 genomes]
rs72757949	0.87[EUR][1000 genomes]
rs72757957	0.83[EUR][1000 genomes]
rs7412913	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7537836	0.87[LWK][hapmap];1.00[YRI][hapmap]
rs867444	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs867445	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs867446	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs904321	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9430131	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9430133	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs955920	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs958304	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1498364	C12orf50	trans	parietal	SCAN
rs1498364	SYT14	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
3	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
4	chr1:214493000-214519800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:214493800-214519000	Weak transcription	Fetal Thymus	thymus
7	chr1:214503200-214537800	Weak transcription	Gastric	stomach
8	chr1:214504600-214533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:214507000-214529800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:214508400-214520000	Weak transcription	Thymus	Thymus
11	chr1:214508400-214524600	Weak transcription	Lung	lung
12	chr1:214508400-214524800	Weak transcription	Spleen	Spleen
13	chr1:214508400-214529600	Weak transcription	Pancreas	Pancrea
14	chr1:214508400-214535000	Weak transcription	Esophagus	oesophagus
15	chr1:214508800-214520400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:214508800-214528600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:214509200-214523200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:214511400-214524800	Weak transcription	Right Ventricle	heart
19	chr1:214511400-214529400	Weak transcription	Aorta	Aorta
20	chr1:214511400-214530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:214511400-214531200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:214511600-214522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:214511600-214528000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:214511800-214528000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:214512000-214520200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:214512000-214521600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:214512000-214537000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:214512400-214520800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:214512400-214524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:214512600-214520400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:214513000-214519800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:214514000-214522600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:214514000-214523200	Strong transcription	Osteobl	bone
35	chr1:214514000-214537800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:214514400-214519000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:214514400-214523000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:214514600-214523200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:214514800-214519000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:214514800-214526400	Weak transcription	Fetal Stomach	stomach
41	chr1:214515200-214520000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:214515400-214542600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:214515800-214519000	Strong transcription	NHEK	skin
44	chr1:214515800-214522400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:214516000-214518800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:214516000-214522200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:214516000-214523200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:214516200-214522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:214516400-214519200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:214516400-214522600	Strong transcription	HSMM	muscle

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