Variant report

Variant	rs13426557
Chromosome Location	chr2:152283616-152283617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152283341..152286835-chr2:152286968..152289954,3	K562	blood:
2	chr2:152274239..152276759-chr2:152282847..152284956,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10167358	0.87[YRI][hapmap]
rs10195016	0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203078	0.88[YRI][hapmap]
rs10203982	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898571	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900635	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328572	0.85[YRI][hapmap]
rs13387420	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398916	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415076	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4338956	1.00[YRI][hapmap]
rs6707098	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566841	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152287000	Weak transcription	Colonic Mucosa	Colon
2	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
4	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:152268200-152284200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:152268200-152303000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:152268200-152319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:152268200-152320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
12	chr2:152268400-152298200	Strong transcription	Fetal Intestine Large	intestine
13	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:152268600-152300200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:152268600-152319200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:152268600-152326800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:152268600-152327800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:152268600-152334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:152268600-152342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:152268800-152283800	Strong transcription	K562	blood
21	chr2:152268800-152299800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:152268800-152319600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:152268800-152326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:152268800-152327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:152268800-152327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:152269000-152284000	Strong transcription	Fetal Brain Female	brain
27	chr2:152269000-152284600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:152269400-152327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:152270600-152283800	Strong transcription	HepG2	liver
30	chr2:152272400-152319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:152272400-152327800	Strong transcription	Dnd41	blood
32	chr2:152274600-152290400	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:152274800-152289000	Strong transcription	Fetal Stomach	stomach
34	chr2:152275800-152310000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:152277000-152294200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:152277000-152301400	Weak transcription	Fetal Heart	heart
37	chr2:152278000-152287600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:152278200-152285800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:152278200-152290000	Weak transcription	Esophagus	oesophagus
40	chr2:152278200-152293600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:152278200-152294200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:152278400-152285800	Weak transcription	Psoas Muscle	Psoas
43	chr2:152278400-152293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:152278600-152286600	Weak transcription	Right Ventricle	heart
45	chr2:152278600-152290000	Weak transcription	Aorta	Aorta
46	chr2:152278600-152310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:152278800-152287200	Weak transcription	Ovary	ovary
48	chr2:152279200-152283800	Weak transcription	Lung	lung
49	chr2:152279200-152284000	Weak transcription	Thymus	Thymus
50	chr2:152279600-152283800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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