Variant report

Variant	rs72687216
Chromosome Location	chr14:78206273-78206274
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	CEBPB	chr14:78206226-78206542	MCF-7	breast:	n/a	chr14:78206427-78206438

No.	Distal block	Cell Line	Cell type
1	chr14:78206025..78208064-chr14:78225282..78227652,3	K562	blood:
2	chr14:78206025..78208358-chr14:78225677..78227652,2	K562	blood:
3	chr14:78203883..78206555-chr14:78266429..78268356,2	MCF-7	breast:

Variant related genes	Relation type
SNW1	TF binding region
ENSG00000063761	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000100603	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.87[AFR][1000 genomes]
rs11622176	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2112135	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445066	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541608	1.00[ASN][1000 genomes]
rs28607620	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651563	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[ASN][1000 genomes]
rs55636050	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	1.00[ASN][1000 genomes]
rs56109335	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56339806	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57615727	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171071	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59200674	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7148685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685244	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685297	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685302	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687222	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687223	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687228	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687247	0.87[AFR][1000 genomes]
rs72687250	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015313	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	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
rs72687216	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	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
8	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
16	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
17	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:78177200-78223800	Strong transcription	Dnd41	blood
20	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:78181600-78208000	Strong transcription	Fetal Lung	lung
22	chr14:78190600-78213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
24	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
25	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:78199200-78212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
28	chr14:78199400-78211800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
30	chr14:78200800-78212800	Strong transcription	Primary T cells from cord blood	blood
31	chr14:78201200-78212600	Weak transcription	Gastric	stomach
32	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
35	chr14:78203800-78206600	Strong transcription	Fetal Intestine Small	intestine
36	chr14:78203800-78208800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:78203800-78211000	Weak transcription	HMEC	breast
38	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
39	chr14:78204000-78212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:78204000-78215200	Weak transcription	Hela-S3	cervix
41	chr14:78204600-78207400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr14:78205000-78211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:78205000-78213800	Weak transcription	Colonic Mucosa	Colon
44	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
45	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
46	chr14:78205200-78207800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:78205200-78208600	Weak transcription	Fetal Brain Female	brain
48	chr14:78205200-78209800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:78205200-78209800	Weak transcription	A549	lung
50	chr14:78205200-78210000	Weak transcription	Brain Germinal Matrix	brain

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