Variant report

Variant	rs2433680
Chromosome Location	chr2:169673576-169673577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169673408..169675097-chr2:169675121..169676627,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10490707	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs16855923	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16855947	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17265731	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17265949	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2276666	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2433679	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2433681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461362	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2461363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461390	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3821115	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3843328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs494120	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs498488	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs543262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs551037	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs829960	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169676000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
3	chr2:169661400-169676800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:169662600-169675600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:169668400-169674000	Strong transcription	K562	blood
6	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
7	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
9	chr2:169671000-169676000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:169671200-169673600	Enhancers	Fetal Heart	heart
11	chr2:169671600-169673600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:169671600-169674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:169672200-169673800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:169672200-169675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:169672200-169675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:169672400-169674000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:169672400-169675600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:169672600-169673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:169672600-169673800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:169672600-169673800	Enhancers	NHDF-Ad	bronchial
21	chr2:169672600-169673800	Enhancers	Osteobl	bone
22	chr2:169672600-169675800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:169672600-169676800	Strong transcription	Fetal Intestine Small	intestine
24	chr2:169672800-169673600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:169672800-169673600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:169672800-169673800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:169672800-169673800	Enhancers	HMEC	breast
28	chr2:169672800-169673800	Enhancers	NHEK	skin
29	chr2:169672800-169674000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:169673000-169673600	Weak transcription	Adipose Nuclei	Adipose
31	chr2:169673000-169674000	Enhancers	Left Ventricle	heart
32	chr2:169673000-169678400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:169673200-169673800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:169673200-169673800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:169673200-169673800	Enhancers	HSMM	muscle
36	chr2:169673200-169673800	Enhancers	HSMMtube	muscle
37	chr2:169673200-169675800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:169673200-169675800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:169673200-169675800	Weak transcription	Right Atrium	heart
40	chr2:169673400-169675600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:169673400-169675800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:169673400-169676000	Weak transcription	Lung	lung
43	chr2:169673400-169679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
45	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
46	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
47	chr2:169673400-169692200	Weak transcription	Gastric	stomach

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