Variant report

Variant	rs72685216
Chromosome Location	chr14:78123684-78123685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:78123577-78123973	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr14:78123660-78123810	GM12864	blood:	n/a	n/a
3	ELF1	chr14:78123574-78123892	K562	blood:	n/a	chr14:78123718-78123731

Variant related genes	Relation type
COX6CP11	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622176	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	1.00[ASN][1000 genomes]
rs11623898	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	1.00[ASN][1000 genomes]
rs11625029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	1.00[ASN][1000 genomes]
rs17825434	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445066	1.00[ASN][1000 genomes]
rs28541608	1.00[ASN][1000 genomes]
rs28607620	1.00[ASN][1000 genomes]
rs28651563	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[ASN][1000 genomes]
rs55636050	1.00[ASN][1000 genomes]
rs55922310	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	1.00[ASN][1000 genomes]
rs56109335	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57615727	1.00[ASN][1000 genomes]
rs58171071	1.00[ASN][1000 genomes]
rs59200674	1.00[ASN][1000 genomes]
rs6494	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7148685	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685244	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	1.00[ASN][1000 genomes]
rs72687251	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	1.00[ASN][1000 genomes]
rs72688824	1.00[ASN][1000 genomes]
rs8015313	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	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
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv9155	chr14:78118162-78133830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv32836	chr14:78119497-78124958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72685216	SPTLC2	cis	Nerve Tibial	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
2	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:78120600-78123800	Enhancers	Spleen	Spleen
4	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
5	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:78120800-78124600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:78121400-78123800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:78121400-78126400	Weak transcription	Fetal Brain Male	brain
10	chr14:78121400-78126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:78121400-78126600	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:78121400-78129800	Weak transcription	Right Atrium	heart
13	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:78121800-78126000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:78121800-78126400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:78121800-78126400	Weak transcription	Brain Anterior Caudate	brain
17	chr14:78121800-78126600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:78121800-78126600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:78121800-78126600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:78121800-78127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:78121800-78139800	Weak transcription	Gastric	stomach
22	chr14:78122000-78124600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:78122000-78124600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:78122000-78124600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:78122000-78124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:78122000-78125000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:78122000-78126400	Weak transcription	Brain Germinal Matrix	brain
28	chr14:78122000-78126400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:78122000-78127200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:78122000-78127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:78122000-78127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
33	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea
34	chr14:78122200-78126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:78122200-78127000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:78122400-78126400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:78122800-78124000	Enhancers	HUVEC	blood vessel
38	chr14:78123000-78137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:78123200-78123800	Enhancers	Left Ventricle	heart
40	chr14:78123200-78126400	Weak transcription	HepG2	liver
41	chr14:78123400-78123800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:78123400-78124000	Enhancers	Lung	lung
43	chr14:78123400-78138800	Weak transcription	Liver	Liver
44	chr14:78123600-78123800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:78123600-78123800	Enhancers	Fetal Muscle Leg	muscle
46	chr14:78123600-78124000	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:78123600-78124000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:78123600-78124000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:78123600-78125200	Weak transcription	Right Ventricle	heart

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