Variant report

Variant	rs13425123
Chromosome Location	chr2:37300286-37300287
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	chr2:37291968..37296809-chr2:37296827..37300511,4	K562	blood:
2	chr2:37298361..37300896-chr2:37301452..37303760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10084315	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10176233	1.00[EUR][1000 genomes]
rs10186611	1.00[CEU][hapmap]
rs10191403	1.00[YRI][hapmap]
rs10194972	1.00[YRI][hapmap]
rs10202693	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10211667	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12464180	1.00[CEU][hapmap]
rs12465097	1.00[EUR][1000 genomes]
rs12466249	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12469391	1.00[EUR][1000 genomes]
rs12470942	1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12474977	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs13382546	0.83[AMR][1000 genomes]
rs13398178	1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398187	1.00[YRI][hapmap]
rs13399537	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424255	1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425169	1.00[CEU][hapmap]
rs13426400	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13430716	1.00[CEU][hapmap]
rs2307469	0.95[EUR][1000 genomes]
rs4648185	1.00[CEU][hapmap]
rs4648228	0.84[EUR][1000 genomes]
rs4648233	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9309000	0.83[AMR][1000 genomes]
rs9631047	1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
15	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
19	chr2:37281800-37307200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:37282000-37308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:37284600-37307200	Weak transcription	Stomach Mucosa	stomach
22	chr2:37287000-37305200	Strong transcription	Primary T cells from cord blood	blood
23	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:37287600-37306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:37287800-37306600	Strong transcription	Primary B cells from cord blood	blood
27	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
28	chr2:37289400-37307600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:37289800-37306400	Strong transcription	Brain Anterior Caudate	brain
30	chr2:37290000-37307400	Weak transcription	Fetal Heart	heart
31	chr2:37290800-37304000	Weak transcription	Psoas Muscle	Psoas
32	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
33	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37292400-37302000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:37292400-37307000	Weak transcription	Small Intestine	intestine
36	chr2:37293000-37302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:37293000-37304400	Weak transcription	Aorta	Aorta
38	chr2:37293000-37307200	Weak transcription	Right Ventricle	heart
39	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
40	chr2:37293200-37301600	Weak transcription	NHEK	skin
41	chr2:37293200-37301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:37293200-37302000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:37293200-37308400	Weak transcription	HSMMtube	muscle
44	chr2:37293400-37301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:37293400-37301800	Weak transcription	Fetal Kidney	kidney
46	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:37293800-37301800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:37293800-37301800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:37293800-37303200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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