Variant report

Variant	rs2499837
Chromosome Location	chr1:161964463-161964464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161961819..161964553-chr1:161966173..161967912,3	K562	blood:
2	chr1:161962621..161964963-chr1:161966345..161967912,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17408026	1.00[AMR][1000 genomes]
rs17409485	1.00[AMR][1000 genomes]
rs17416424	1.00[AMR][1000 genomes]
rs17416633	1.00[AMR][1000 genomes]
rs17416920	1.00[AMR][1000 genomes]
rs17417198	1.00[AMR][1000 genomes]
rs17417647	1.00[AMR][1000 genomes]
rs17418028	1.00[AMR][1000 genomes]
rs17418130	1.00[AMR][1000 genomes]
rs17418389	1.00[AMR][1000 genomes]
rs17448307	1.00[AMR][1000 genomes]
rs17448571	1.00[AMR][1000 genomes]
rs17450717	1.00[AMR][1000 genomes]
rs17450862	1.00[AMR][1000 genomes]
rs17450917	1.00[AMR][1000 genomes]
rs17450980	1.00[AMR][1000 genomes]
rs2490419	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2490421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2490443	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2499840	0.90[AFR][1000 genomes]
rs35284289	1.00[AMR][1000 genomes]
rs36108216	1.00[AMR][1000 genomes]
rs41271949	1.00[AMR][1000 genomes]
rs5014880	1.00[AMR][1000 genomes]
rs61809495	1.00[AMR][1000 genomes]
rs61809496	1.00[AMR][1000 genomes]
rs61809498	1.00[AMR][1000 genomes]
rs61809500	1.00[AMR][1000 genomes]
rs61809501	1.00[AMR][1000 genomes]
rs61809502	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv548078	chr1:161941219-161980502	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161954000-161972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:161957400-161967400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:161958000-161966000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:161959400-161964800	Weak transcription	Placenta	Placenta
5	chr1:161959400-161968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:161959400-161973200	Weak transcription	NHLF	lung
7	chr1:161962200-161966400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:161963000-161966000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:161963000-161966400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:161963000-161966800	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr1:161963200-161965400	Genic enhancers	Fetal Stomach	stomach
12	chr1:161963200-161966200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:161963200-161966800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr1:161963200-161970400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:161963200-161971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:161963400-161965000	Enhancers	Colon Smooth Muscle	Colon
17	chr1:161963600-161965000	Genic enhancers	HSMM	muscle
18	chr1:161963600-161965200	Weak transcription	Aorta	Aorta
19	chr1:161963600-161965200	Enhancers	HSMMtube	muscle
20	chr1:161963600-161965400	Genic enhancers	NHDF-Ad	bronchial
21	chr1:161963600-161967800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:161963800-161964600	Active TSS	Brain Anterior Caudate	brain
23	chr1:161963800-161964800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:161963800-161965200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:161963800-161972800	Weak transcription	Fetal Intestine Small	intestine
26	chr1:161964000-161964600	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:161964000-161964600	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:161964000-161964600	Flanking Active TSS	Osteobl	bone
29	chr1:161964000-161967400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:161964000-161973800	Weak transcription	Thymus	Thymus
31	chr1:161964200-161964600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:161964200-161964600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:161964200-161964600	Active TSS	Brain Substantia Nigra	brain
34	chr1:161964200-161965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:161964200-161967800	Weak transcription	Lung	lung
36	chr1:161964200-161972200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:161964400-161964600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:161964400-161964600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:161964400-161964600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:161964400-161964800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161964400-161965000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:161964400-161965200	Enhancers	Brain Hippocampus Middle	brain
43	chr1:161964400-161965400	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:161964400-161967800	Weak transcription	Ovary	ovary

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