Variant report

Variant	rs62157336
Chromosome Location	chr2:79220714-79220715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17693274	0.80[ASN][1000 genomes]
rs17749772	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58584065	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62157334	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72814649	0.91[ASN][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	nsv916498	chr2:78429997-79340383	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3584761	chr2:78545020-79430628	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv834272	chr2:79056890-79223476	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1795979	chr2:79075753-79226086	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874374	chr2:79198620-79236614	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79219600-79220800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:79219600-79220800	Active TSS	Duodenum Mucosa	Duodenum
3	chr2:79219600-79221200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:79219600-79221200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:79219600-79221200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr2:79219600-79221400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:79219600-79221400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:79219600-79221400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:79219800-79220800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr2:79219800-79220800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:79219800-79220800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr2:79219800-79220800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
13	chr2:79219800-79221400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:79220000-79220800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
15	chr2:79220200-79220800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:79220200-79220800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:79220200-79220800	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr2:79220200-79220800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
19	chr2:79220200-79220800	Bivalent Enhancer	Fetal Heart	heart
20	chr2:79220400-79220800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:79220400-79220800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr2:79220400-79220800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:79220400-79221200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr2:79220400-79221200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:79220400-79221200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr2:79220400-79221200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:79220400-79222200	Weak transcription	Gastric	stomach
28	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
29	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr2:79220600-79220800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr2:79220600-79220800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr2:79220600-79220800	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr2:79220600-79220800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
38	chr2:79220600-79220800	Bivalent Enhancer	Fetal Kidney	kidney
39	chr2:79220600-79220800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr2:79220600-79220800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr2:79220600-79220800	Flanking Bivalent TSS/Enh	Spleen	Spleen
42	chr2:79220600-79221000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:79220600-79221000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:79220600-79221000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:79220600-79221000	Enhancers	Pancreas	Pancrea
46	chr2:79220600-79221000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr2:79220600-79221200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr2:79220600-79221200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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