Variant report

Variant	rs2731443
Chromosome Location	chr12:51094138-51094139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51087988..51090769-chr12:51092330..51094240,2	K562	blood:
2	chr12:51094127..51096407-chr12:51107312..51109683,2	K562	blood:
3	chr12:51082917..51085184-chr12:51092680..51094317,2	K562	blood:
4	chr12:51093123..51095984-chr12:51096359..51098368,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10747586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10783366	0.92[CEU][hapmap]
rs10783377	1.00[ASN][1000 genomes]
rs10783380	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap];0.80[TSI][hapmap]
rs10876044	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs10876046	1.00[ASN][1000 genomes]
rs1109726	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11609231	1.00[ASN][1000 genomes]
rs11609506	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11609941	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11832315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs12821270	1.00[ASN][1000 genomes]
rs1345538	1.00[CHB][hapmap]
rs1521516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs2250751	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];1.00[ASN][1000 genomes]
rs2684889	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939211	1.00[ASN][1000 genomes]
rs56089074	1.00[ASN][1000 genomes]
rs56104942	1.00[ASN][1000 genomes]
rs57602501	1.00[ASN][1000 genomes]
rs57729468	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6580769	1.00[ASN][1000 genomes]
rs66597435	1.00[ASN][1000 genomes]
rs66644594	1.00[ASN][1000 genomes]
rs66838741	1.00[ASN][1000 genomes]
rs66947035	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67218241	0.80[EUR][1000 genomes]
rs67356137	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	1.00[ASN][1000 genomes]
rs7131795	1.00[ASN][1000 genomes]
rs7135837	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	1.00[ASN][1000 genomes]
rs7305655	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7307815	1.00[ASN][1000 genomes]
rs7308872	0.85[EUR][1000 genomes]
rs7960015	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	1.00[ASN][1000 genomes]
rs7977064	1.00[ASN][1000 genomes]
rs7977690	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7978559	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7979165	1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829112	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs829114	1.00[ASN][1000 genomes]
rs829115	1.00[ASN][1000 genomes]
rs861204	1.00[CHB][hapmap]
rs865489	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2731443	CERS5	cis	Nerve Tibial	GTEx
rs2731443	KIAA1463	cis	multi-tissue	Pritchard
rs2731443	MCRS1	cis	parietal	SCAN
rs2731443	LASS5	cis	multi-tissue	Pritchard
rs2731443	LASS5	cis	cerebellum	SCAN
rs2731443	DHH	cis	parietal	SCAN
rs2731443	DIP2B	cis	cerebellum	SCAN
rs2731443	LASS5	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51049200-51108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:51060000-51101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51060200-51108200	Weak transcription	Stomach Mucosa	stomach
4	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:51064000-51109800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:51064000-51127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:51064800-51095800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:51067400-51106200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:51067400-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:51068200-51095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:51068200-51106200	Strong transcription	Fetal Thymus	thymus
16	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
17	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:51068400-51095000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:51074200-51106000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:51074600-51109800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:51075200-51098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:51076600-51102600	Strong transcription	Adipose Nuclei	Adipose
24	chr12:51079200-51094800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr12:51079200-51094800	Strong transcription	Dnd41	blood
26	chr12:51079200-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:51079400-51095200	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:51079600-51094800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:51083400-51126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:51084600-51102400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:51084600-51106000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:51084800-51094800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:51084800-51095600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:51085600-51118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:51086200-51094800	Strong transcription	Brain Hippocampus Middle	brain
37	chr12:51086200-51094800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:51086200-51094800	Strong transcription	Fetal Brain Female	brain
39	chr12:51086200-51095000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:51086200-51095400	Strong transcription	Colonic Mucosa	Colon
41	chr12:51086200-51095600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:51086200-51109800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:51086400-51094800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:51086400-51094800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:51086400-51094800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr12:51086400-51095000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:51086400-51095800	Strong transcription	Brain Germinal Matrix	brain
50	chr12:51086400-51099600	Strong transcription	Thymus	Thymus

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