Variant report

Variant	rs13422484
Chromosome Location	chr2:50574485-50574486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13397180	0.85[ASN][1000 genomes]
rs6545164	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6760667	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9309181	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers 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 miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1000087	chr2:50501395-50581229	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50570600-50575400	Active TSS	Brain Angular Gyrus	brain
2	chr2:50571800-50575000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:50572800-50575400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:50572800-50575400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr2:50573000-50575000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:50573000-50575000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr2:50573000-50575000	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr2:50573000-50575200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:50573000-50575400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:50573000-50575600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:50573200-50574800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr2:50573200-50575000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:50573200-50575200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:50573200-50575400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:50573400-50575000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:50573400-50575000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:50573400-50575000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:50573400-50575000	Active TSS	Right Atrium	heart
19	chr2:50573400-50575400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:50573400-50575600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:50573600-50574800	Bivalent/Poised TSS	Right Ventricle	heart
22	chr2:50573600-50575000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:50573600-50575000	Active TSS	Brain Anterior Caudate	brain
24	chr2:50573600-50575000	Active TSS	Fetal Brain Male	brain
25	chr2:50573600-50575000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr2:50573600-50575400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr2:50573600-50575400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:50573800-50574800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:50573800-50575000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:50573800-50575000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:50573800-50575000	Bivalent Enhancer	Fetal Heart	heart
32	chr2:50573800-50575200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:50573800-50576000	Active TSS	Fetal Brain Female	brain
34	chr2:50574000-50574800	Bivalent/Poised TSS	Lung	lung
35	chr2:50574000-50575000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:50574000-50575200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:50574000-50575200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr2:50574000-50575600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:50574200-50574600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:50574200-50574600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr2:50574200-50574600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr2:50574200-50574600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr2:50574200-50574600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr2:50574200-50574800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:50574200-50574800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:50574200-50574800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr2:50574200-50575000	Bivalent/Poised TSS	NH-A	brain
48	chr2:50574200-50575200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:50574200-50575200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr2:50574200-50575200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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