Variant report

Variant	rs230353
Chromosome Location	chr14:31133994-31133995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130830	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10139154	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142331	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147505	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625381	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11846420	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434151	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs151123	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170663	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs170665	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs172946	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179287	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183467	0.82[EUR][1000 genomes]
rs1950882	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2045180	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070339	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229141	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229143	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs229144	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229145	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs229150	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229152	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229154	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229155	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229156	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs229161	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229162	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229171	0.82[EUR][1000 genomes]
rs229173	0.84[EUR][1000 genomes]
rs229176	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs229179	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs229184	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs229190	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs229194	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs229195	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229200	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229201	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229206	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229207	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs229209	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229211	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229221	0.81[EUR][1000 genomes]
rs229227	0.82[EUR][1000 genomes]
rs229228	0.81[EUR][1000 genomes]
rs229231	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs229235	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs229236	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229237	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229240	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229243	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229247	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs230340	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230343	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230356	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230360	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs230364	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230366	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378781	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2378782	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34558066	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs448175	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4981767	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58049	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61976711	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571361	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7141161	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142948	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7144204	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147530	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7152417	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7153509	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154847	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7158351	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8012494	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9806111	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs230353	SCFD1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
3	chr14:31096000-31167400	Weak transcription	Gastric	stomach
4	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
6	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
7	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
10	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:31118200-31134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:31118400-31134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:31118800-31134000	Strong transcription	HSMM	muscle
16	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
17	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
20	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
21	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
22	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
26	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
27	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:31126000-31139800	Weak transcription	K562	blood
36	chr14:31126200-31134000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:31126200-31151800	Weak transcription	NHLF	lung
38	chr14:31126400-31142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:31126400-31151200	Weak transcription	HMEC	breast
40	chr14:31127000-31134000	Strong transcription	Liver	Liver
41	chr14:31127200-31134000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:31127600-31134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:31127600-31134000	Strong transcription	Adipose Nuclei	Adipose
44	chr14:31128200-31142400	Weak transcription	HUVEC	blood vessel
45	chr14:31128200-31144800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
50	chr14:31129200-31134000	Strong transcription	Fetal Lung	lung

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