Variant report

Variant	rs1048791
Chromosome Location	chr1:214511519-214511520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214505230..214508273-chr1:214509081..214512875,4	K562	blood:
2	chr1:214505285..214508273-chr1:214509081..214512875,3	K562	blood:
3	chr1:214510153..214512455-chr1:214513902..214515768,2	K562	blood:
4	chr1:214453765..214455514-chr1:214509490..214512131,2	K562	blood:
5	chr1:214501183..214505106-chr1:214509750..214514564,4	K562	blood:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10465696	0.90[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465697	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120299	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120300	0.83[MEX][hapmap]
rs11800749	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073421	1.00[ASN][1000 genomes]
rs1391553	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498364	1.00[ASN][1000 genomes]
rs17022608	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730755	1.00[JPT][hapmap]
rs17731174	1.00[JPT][hapmap]
rs17786949	1.00[JPT][hapmap]
rs2047445	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35949806	1.00[ASN][1000 genomes]
rs3767842	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655243	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655244	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655246	1.00[CEU][hapmap]
rs4655330	0.90[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs4655332	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655333	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655334	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655336	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760458	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59864830	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660335	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687629	0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6695148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412913	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs867444	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867445	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867446	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904321	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308433	0.83[MEX][hapmap]
rs9308435	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9430131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430133	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955920	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs958304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1048791	SYT14	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214471000-214517400	Weak transcription	Fetal Kidney	kidney
2	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:214485000-214513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
5	chr1:214488200-214517600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
7	chr1:214490800-214518200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:214493000-214519800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:214493800-214519000	Weak transcription	Fetal Thymus	thymus
11	chr1:214501800-214512000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:214501800-214517800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:214502600-214515000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:214503200-214537800	Weak transcription	Gastric	stomach
15	chr1:214503400-214513000	Weak transcription	K562	blood
16	chr1:214503400-214518400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:214503800-214515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:214504600-214517600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:214504600-214533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:214504800-214512000	Weak transcription	Primary B cells from cord blood	blood
21	chr1:214505400-214512000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:214506600-214511600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:214506800-214512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:214506800-214513200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:214506800-214514600	Weak transcription	A549	lung
26	chr1:214507000-214517400	Weak transcription	HUVEC	blood vessel
27	chr1:214507000-214529800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:214507200-214512000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:214508000-214517200	Weak transcription	Fetal Lung	lung
30	chr1:214508000-214517400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:214508000-214517400	Weak transcription	NHLF	lung
32	chr1:214508200-214514200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:214508400-214517200	Weak transcription	Placenta	Placenta
34	chr1:214508400-214517800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:214508400-214520000	Weak transcription	Thymus	Thymus
36	chr1:214508400-214524600	Weak transcription	Lung	lung
37	chr1:214508400-214524800	Weak transcription	Spleen	Spleen
38	chr1:214508400-214529600	Weak transcription	Pancreas	Pancrea
39	chr1:214508400-214535000	Weak transcription	Esophagus	oesophagus
40	chr1:214508600-214512400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:214508800-214512400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:214508800-214513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:214508800-214514000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:214508800-214517000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:214508800-214520400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:214508800-214528600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:214509200-214523200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:214509400-214516600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:214509800-214511800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:214509800-214512600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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