Variant report

Variant	rs72687222
Chromosome Location	chr14:78215248-78215249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622176	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623898	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825434	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445066	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541608	1.00[ASN][1000 genomes]
rs28607620	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651563	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[ASN][1000 genomes]
rs55636050	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922310	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	1.00[ASN][1000 genomes]
rs56109335	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57615727	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171071	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59200674	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7148685	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685244	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015313	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72687222	SPTLC2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:78177200-78223800	Strong transcription	Dnd41	blood
12	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
14	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
15	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
17	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
18	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
21	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
22	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
23	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
24	chr14:78205400-78215800	Weak transcription	NHLF	lung
25	chr14:78205400-78216200	Weak transcription	Brain Angular Gyrus	brain
26	chr14:78205400-78219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:78205600-78215400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:78205600-78215400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:78205600-78215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:78205600-78219200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:78205800-78215400	Weak transcription	HSMMtube	muscle
32	chr14:78206800-78221400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:78207000-78219400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:78207000-78222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:78207200-78215400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:78207200-78222000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:78207400-78217800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:78207400-78223000	Strong transcription	Fetal Thymus	thymus
39	chr14:78207600-78222400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:78207600-78224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
42	chr14:78208000-78215400	Weak transcription	NHEK	skin
43	chr14:78208400-78216000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:78208400-78221400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr14:78208800-78221800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:78209400-78215400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:78209600-78221200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:78209600-78221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:78209800-78217600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:78209800-78223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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