Variant report

Variant	rs12332081
Chromosome Location	chr5:101119577-101119578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10036426	0.98[EUR][1000 genomes]
rs1114782	0.82[ASN][1000 genomes]
rs1114783	0.82[ASN][1000 genomes]
rs2061864	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528811	chr5:100424081-101218087	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2760962	chr5:100776199-101485581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1030275	chr5:100867055-101190021	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1016464	chr5:100879176-101128705	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1020846	chr5:100915406-101123526	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1023748	chr5:100916555-101247070	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1020461	chr5:100940280-101270305	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1026660	chr5:100943059-101247070	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1027957	chr5:100978562-101237003	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1020197	chr5:100994872-101285370	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1020503	chr5:100995507-101283156	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1028227	chr5:100995507-101285370	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1022231	chr5:100996356-101264354	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv537827	chr5:100996356-101264354	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1022423	chr5:100996556-101264215	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv537828	chr5:100996556-101264215	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv599181	chr5:101003812-101240273	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1018516	chr5:101013963-101270305	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv537829	chr5:101013963-101270305	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv882496	chr5:101066107-101507854	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv882497	chr5:101090013-101475506	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv970016	chr5:101108553-101119877	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101117800-101119800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:101118400-101119600	Active TSS	A549	lung
3	chr5:101118600-101119600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:101118600-101119600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:101118800-101119600	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr5:101118800-101119600	Active TSS	Brain Angular Gyrus	brain
7	chr5:101118800-101119600	Active TSS	Brain Anterior Caudate	brain
8	chr5:101118800-101119600	Active TSS	NH-A	brain
9	chr5:101118800-101119800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:101118800-101119800	Active TSS	Brain Germinal Matrix	brain
11	chr5:101118800-101119800	Active TSS	Brain Hippocampus Middle	brain
12	chr5:101118800-101119800	Active TSS	Brain Substantia Nigra	brain
13	chr5:101118800-101119800	Active TSS	Fetal Brain Female	brain
14	chr5:101118800-101119800	Active TSS	NHDF-Ad	bronchial
15	chr5:101119000-101119600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr5:101119000-101119600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:101119000-101119600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:101119000-101119600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:101119000-101119600	Active TSS	Adipose Nuclei	Adipose
20	chr5:101119000-101119600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:101119000-101119600	Active TSS	Fetal Intestine Large	intestine
22	chr5:101119000-101119600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:101119000-101119600	Active TSS	Fetal Muscle Trunk	muscle
24	chr5:101119000-101119600	Active TSS	Fetal Muscle Leg	muscle
25	chr5:101119000-101119600	Enhancers	Ovary	ovary
26	chr5:101119000-101119600	Active TSS	Psoas Muscle	Psoas
27	chr5:101119000-101119600	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:101119000-101119600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:101119000-101119600	Active TSS	HSMMtube	muscle
30	chr5:101119000-101119800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:101119000-101119800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:101119000-101119800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:101119000-101119800	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
34	chr5:101119000-101119800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:101119000-101119800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:101119000-101119800	Active TSS	Aorta	Aorta
37	chr5:101119000-101119800	Active TSS	Brain Cingulate Gyrus	brain
38	chr5:101119000-101119800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:101119000-101119800	Active TSS	Colonic Mucosa	Colon
40	chr5:101119000-101119800	Active TSS	Colon Smooth Muscle	Colon
41	chr5:101119000-101119800	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:101119000-101119800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:101119000-101119800	Active TSS	Fetal Intestine Small	intestine
44	chr5:101119000-101119800	Active TSS	Fetal Kidney	kidney
45	chr5:101119000-101119800	Active TSS	Fetal Lung	lung
46	chr5:101119000-101119800	Active TSS	Fetal Stomach	stomach
47	chr5:101119000-101119800	Active TSS	Pancreas	Pancrea
48	chr5:101119000-101119800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr5:101119000-101119800	Active TSS	Rectal Smooth Muscle	rectum
50	chr5:101119000-101119800	Active TSS	Right Atrium	heart

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