Variant report

Variant	rs73090346
Chromosome Location	chr12:31845316-31845317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11051556	0.85[EUR][1000 genomes]
rs11051558	0.85[EUR][1000 genomes]
rs11051560	0.85[EUR][1000 genomes]
rs11051561	0.85[EUR][1000 genomes]
rs11051562	0.85[EUR][1000 genomes]
rs11051564	0.85[EUR][1000 genomes]
rs11051565	0.83[EUR][1000 genomes]
rs11551368	0.85[ASN][1000 genomes]
rs11611575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11613702	0.83[AMR][1000 genomes]
rs12320166	0.85[EUR][1000 genomes]
rs34841509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36117515	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931552	0.85[EUR][1000 genomes]
rs4931555	0.85[EUR][1000 genomes]
rs56228550	0.82[ASN][1000 genomes]
rs7307184	0.85[EUR][1000 genomes]
rs73090395	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7312417	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7954012	0.85[EUR][1000 genomes]
rs7954275	0.84[EUR][1000 genomes]
rs7964078	0.85[EUR][1000 genomes]
rs7964389	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
4	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
7	chr12:31835800-31854800	Weak transcription	K562	blood
8	chr12:31836000-31857600	Weak transcription	A549	lung
9	chr12:31836800-31850400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:31837200-31845800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:31837200-31846000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:31837200-31846000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:31837200-31846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:31837200-31850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:31837200-31850200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:31837200-31850200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:31837200-31850400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:31837200-31850400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:31837200-31850400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
26	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:31837800-31846000	Weak transcription	Ovary	ovary
28	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:31839600-31855000	Weak transcription	Spleen	Spleen
30	chr12:31839800-31871800	Weak transcription	Gastric	stomach
31	chr12:31840200-31845800	Weak transcription	Fetal Lung	lung
32	chr12:31840200-31846000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:31840200-31846000	Weak transcription	Lung	lung
34	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:31840400-31849200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:31840400-31851800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:31840600-31850400	Weak transcription	Dnd41	blood
40	chr12:31840600-31854400	Weak transcription	Placenta	Placenta
41	chr12:31840800-31850600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:31841000-31846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:31841200-31846000	Weak transcription	Aorta	Aorta
44	chr12:31841200-31857800	Weak transcription	Brain Angular Gyrus	brain
45	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:31841400-31846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:31841400-31850400	Weak transcription	Brain Anterior Caudate	brain
48	chr12:31841400-31856000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:31841600-31846000	Weak transcription	Fetal Stomach	stomach
50	chr12:31841600-31846000	Weak transcription	Thymus	Thymus

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