Variant report

Variant	rs7148685
Chromosome Location	chr14:78191512-78191513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78190819..78193768-chr14:78194288..78197253,2	K562	blood:
2	chr14:78189910..78191846-chr14:78206431..78207991,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.92[AFR][1000 genomes]
rs11622176	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825434	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2112135	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[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	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57615727	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171071	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59200674	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	0.81[AFR][1000 genomes]
rs6494	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7155062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685238	0.81[AFR][1000 genomes]
rs72685244	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685246	0.81[AFR][1000 genomes]
rs72685260	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685297	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685302	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.89[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	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687228	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687247	0.92[AFR][1000 genomes]
rs72687250	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015313	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[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
rs7148685	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	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
6	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
14	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:78176800-78192800	Strong transcription	Osteobl	bone
19	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
23	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:78177000-78194800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:78177000-78204600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:78177000-78204600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
41	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
42	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:78177200-78194200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr14:78177200-78204800	Strong transcription	Liver	Liver
46	chr14:78177200-78205200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:78177200-78205400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:78177200-78223800	Strong transcription	Dnd41	blood
49	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:78177600-78206200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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