Variant report

Variant	rs7197453
Chromosome Location	chr16:72079127-72079128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72071921..72074280-chr16:72078965..72081743,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1035559	0.84[CEU][hapmap]
rs10400963	0.81[JPT][hapmap]
rs10492813	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs10492814	0.84[CEU][hapmap];0.89[JPT][hapmap]
rs1050361	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs1050362	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1050363	0.90[JPT][hapmap]
rs10852511	0.80[JPT][hapmap]
rs11864453	0.84[CEU][hapmap]
rs12325142	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12445401	0.80[ASN][1000 genomes]
rs12445586	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448315	0.90[EUR][1000 genomes]
rs12449073	0.81[JPT][hapmap]
rs12708926	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12708927	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12708928	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12924413	0.95[JPT][hapmap]
rs12924886	0.98[ASN][1000 genomes]
rs12928732	0.84[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs13334151	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs16973716	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2000999	0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2072141	0.83[CEU][hapmap];0.95[JPT][hapmap]
rs2072142	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074626	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2074627	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240243	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241411	0.81[JPT][hapmap]
rs2241412	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287997	0.85[ASN][1000 genomes]
rs2303285	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs2550035	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs2550038	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs2854956	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3213422	0.96[YRI][hapmap]
rs34042070	0.91[ASN][1000 genomes]
rs3764311	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs3764312	0.91[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3764314	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs3794695	0.91[ASN][1000 genomes]
rs3812987	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs3852781	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs3902135	0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs4788597	0.96[YRI][hapmap]
rs4788600	0.80[YRI][hapmap]
rs5472	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6416742	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6499559	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6499560	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6499562	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs6680	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7184169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7185407	0.84[CEU][hapmap]
rs7186207	0.89[YRI][hapmap]
rs7188058	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7190995	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7191127	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192730	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7197869	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198572	0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7940	0.82[JPT][hapmap]
rs8044555	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs8044868	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs8047377	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8050238	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8051882	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8052338	0.81[JPT][hapmap]
rs8052408	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs8058609	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8059378	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8059437	0.81[JPT][hapmap]
rs8062041	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs929866	0.89[YRI][hapmap]
rs9924964	0.80[JPT][hapmap]
rs9925763	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926156	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926927	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs9928157	0.82[JPT][hapmap]
rs9932951	0.81[JPT][hapmap]
rs9941087	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7197453	DHODH	cis	Artery Tibial	GTEx
rs7197453	DHX38	cis	Lymphoblastoid	GTEx
rs7197453	DHODH	cis	Esophagus Muscularis	GTEx
rs7197453	DHX38	cis	multi-tissue	Pritchard
rs7197453	DHODH	cis	Nerve Tibial	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:72060000-72079200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:72060200-72080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
6	chr16:72062200-72079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:72062200-72080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:72062600-72079800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:72063800-72079800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:72075600-72079600	Enhancers	HepG2	liver
11	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
12	chr16:72076400-72079200	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:72076600-72084600	Weak transcription	Lung	lung
14	chr16:72076600-72092400	Weak transcription	Left Ventricle	heart
15	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
16	chr16:72077200-72080000	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:72077400-72079800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:72077400-72081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:72077400-72082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:72077400-72084000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
22	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:72077600-72084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:72077800-72079600	Weak transcription	Brain Germinal Matrix	brain
26	chr16:72078000-72079600	Weak transcription	Fetal Brain Female	brain
27	chr16:72078000-72080200	Weak transcription	Thymus	Thymus
28	chr16:72078000-72080400	Weak transcription	Fetal Intestine Small	intestine
29	chr16:72078000-72080800	Weak transcription	Ovary	ovary
30	chr16:72078000-72083600	Weak transcription	Primary B cells from cord blood	blood
31	chr16:72078000-72084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:72078000-72090000	Weak transcription	Gastric	stomach
33	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:72078200-72080200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
37	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
38	chr16:72078400-72081600	Weak transcription	Fetal Stomach	stomach
39	chr16:72078400-72084600	Weak transcription	Adipose Nuclei	Adipose
40	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
41	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
43	chr16:72078600-72080000	Enhancers	Liver	Liver
44	chr16:72078600-72083200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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