Variant report

Variant	rs73007433
Chromosome Location	chr2:145696494-145696495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145691983..145697033-chr2:145697956..145702108,6	K562	blood:
2	chr2:145696000..145699095-chr2:145703578..145707289,3	K562	blood:
3	chr2:145692796..145697382-chr2:145698219..145701649,5	K562	blood:
4	chr2:145692575..145694209-chr2:145694723..145697330,2	K562	blood:
5	chr2:145676567..145679523-chr2:145696189..145700342,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10928234	1.00[EUR][1000 genomes]
rs56260527	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59001323	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60211308	1.00[EUR][1000 genomes]
rs60943334	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61488890	1.00[EUR][1000 genomes]
rs73005549	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007426	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73007432	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7557112	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7573849	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7600529	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145692800-145696600	Enhancers	Fetal Kidney	kidney
2	chr2:145694200-145696800	Enhancers	Colon Smooth Muscle	Colon
3	chr2:145695000-145696600	Enhancers	Fetal Heart	heart
4	chr2:145695200-145696600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:145695200-145696600	Flanking Active TSS	NHDF-Ad	bronchial
6	chr2:145695200-145699600	Enhancers	Brain Substantia Nigra	brain
7	chr2:145695400-145697600	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:145695400-145697600	Enhancers	HUVEC	blood vessel
9	chr2:145695600-145696600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:145695600-145696600	Flanking Active TSS	A549	lung
11	chr2:145695600-145696600	Enhancers	NHEK	skin
12	chr2:145696000-145696600	Enhancers	Stomach Mucosa	stomach
13	chr2:145696000-145697000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:145696000-145697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:145696000-145700400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:145696000-145700400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:145696000-145701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:145696000-145701200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:145696200-145697200	Weak transcription	Aorta	Aorta
20	chr2:145696200-145697600	Enhancers	Fetal Lung	lung
21	chr2:145696200-145697600	Enhancers	Osteobl	bone
22	chr2:145696200-145698000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:145696200-145698000	Enhancers	Brain Anterior Caudate	brain
24	chr2:145696200-145699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:145696200-145699800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:145696200-145699800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:145696200-145699800	Weak transcription	Right Atrium	heart
28	chr2:145696200-145700000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:145696200-145700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:145696200-145700400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:145696200-145700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:145696200-145700400	Weak transcription	Ovary	ovary
33	chr2:145696200-145701400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
35	chr2:145696400-145696600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:145696400-145696800	Enhancers	NH-A	brain
37	chr2:145696400-145697000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:145696400-145697400	Enhancers	HSMM	muscle
39	chr2:145696400-145697400	Enhancers	NHLF	lung
40	chr2:145696400-145697800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:145696400-145698000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:145696400-145699400	Weak transcription	Liver	Liver
43	chr2:145696400-145699800	Weak transcription	Fetal Intestine Large	intestine
44	chr2:145696400-145700000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:145696400-145700000	Weak transcription	Hela-S3	cervix
46	chr2:145696400-145700000	Weak transcription	HMEC	breast
47	chr2:145696400-145700200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:145696400-145700400	Weak transcription	Fetal Stomach	stomach
49	chr2:145696400-145700800	Weak transcription	HSMMtube	muscle
50	chr2:145696400-145701000	Weak transcription	Stomach Smooth Muscle	stomach

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