Variant report

Variant	rs793173
Chromosome Location	chr12:31638404-31638405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1012154	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11051456	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150942	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150950	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1150953	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1150954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150963	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259235	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1259241	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259352	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259353	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259354	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259356	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259359	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259386	0.91[ASN][1000 genomes]
rs1259389	0.85[ASN][1000 genomes]
rs1259395	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1259405	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259409	0.82[EUR][1000 genomes]
rs1259422	0.81[AFR][1000 genomes]
rs1259426	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1259430	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1259432	0.86[AMR][1000 genomes]
rs1259435	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259438	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259441	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1271128	0.86[AMR][1000 genomes]
rs1271663	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1272773	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542536	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1677186	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677187	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677189	0.87[AMR][1000 genomes]
rs1716194	0.82[ASN][1000 genomes]
rs1716216	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2061761	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2568885	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568887	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2568888	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2568894	0.84[AMR][1000 genomes]
rs2568902	0.90[AMR][1000 genomes]
rs2604052	0.91[ASN][1000 genomes]
rs2617178	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617191	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617200	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2682671	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682674	0.86[ASN][1000 genomes]
rs2682677	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682679	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682680	0.89[ASN][1000 genomes]
rs2682686	0.86[EUR][1000 genomes]
rs2682695	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4312145	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs708212	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs708215	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs708217	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs792871	0.84[AMR][1000 genomes]
rs792875	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs793148	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793149	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793150	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793158	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs793161	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs793171	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs793174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793175	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793176	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs793177	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793186	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793191	0.84[AMR][1000 genomes]
rs899159	0.91[ASN][1000 genomes]
rs976874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:31585000-31642000	Weak transcription	Fetal Kidney	kidney
7	chr12:31594400-31648400	Weak transcription	Small Intestine	intestine
8	chr12:31605400-31647200	Weak transcription	Psoas Muscle	Psoas
9	chr12:31620200-31644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:31627600-31638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:31628800-31643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:31628800-31644200	Weak transcription	Pancreas	Pancrea
13	chr12:31628800-31655800	Weak transcription	Gastric	stomach
14	chr12:31629000-31645000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:31630400-31655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:31630800-31638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:31631600-31644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:31631800-31638800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:31632000-31638600	Weak transcription	Fetal Heart	heart
20	chr12:31632600-31640800	Weak transcription	Fetal Lung	lung
21	chr12:31632800-31638600	Weak transcription	Placenta	Placenta
22	chr12:31632800-31644400	Weak transcription	Brain Germinal Matrix	brain
23	chr12:31632800-31645200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:31633000-31638600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:31633000-31641200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:31633000-31644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:31633000-31644000	Weak transcription	HepG2	liver
28	chr12:31633000-31644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:31633000-31644400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:31633000-31644400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:31633000-31644400	Weak transcription	HSMMtube	muscle
32	chr12:31633000-31644600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:31633000-31645200	Weak transcription	Right Ventricle	heart
34	chr12:31633000-31648800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:31633000-31651600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:31633000-31652400	Weak transcription	Fetal Brain Female	brain
37	chr12:31633200-31641400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:31633200-31642200	Weak transcription	Liver	Liver
39	chr12:31633200-31644400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:31633200-31644400	Weak transcription	HSMM	muscle
41	chr12:31633200-31644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:31633200-31645000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:31633200-31647200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:31633200-31647200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:31633200-31647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:31633200-31649200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:31633200-31649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:31633200-31652200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:31634800-31644800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:31636200-31638600	Weak transcription	Left Ventricle	heart

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