Variant report

Variant	rs72930099
Chromosome Location	chr2:39694380-39694381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39673263..39677123-chr2:39692250..39696646,6	MCF-7	breast:
2	chr2:39662686..39670121-chr2:39690503..39697386,20	MCF-7	breast:
3	chr2:39692767..39694773-chr2:39696580..39698942,2	MCF-7	breast:
4	chr2:39663070..39666737-chr2:39691085..39694878,4	MCF-7	breast:
5	chr2:39692371..39695353-chr2:39710610..39713558,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17023746	1.00[AMR][1000 genomes]
rs59367765	1.00[AMR][1000 genomes]
rs60080259	1.00[AMR][1000 genomes]
rs61307566	1.00[AMR][1000 genomes]
rs61570293	1.00[AMR][1000 genomes]
rs72925265	1.00[AMR][1000 genomes]
rs72925273	1.00[AMR][1000 genomes]
rs72925279	1.00[AMR][1000 genomes]
rs72925287	1.00[AMR][1000 genomes]
rs72927106	1.00[AMR][1000 genomes]
rs72927112	1.00[AMR][1000 genomes]
rs72930080	1.00[AMR][1000 genomes]
rs72930083	1.00[AMR][1000 genomes]
rs72931162	1.00[AMR][1000 genomes]
rs72931169	1.00[AMR][1000 genomes]
rs72931170	1.00[AMR][1000 genomes]
rs72932006	1.00[AMR][1000 genomes]
rs72932012	1.00[AMR][1000 genomes]
rs72932020	1.00[AMR][1000 genomes]
rs7578373	1.00[AMR][1000 genomes]
rs7603259	1.00[AMR][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39665200-39696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39665600-39694600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:39665600-39694800	Weak transcription	Pancreas	Pancrea
4	chr2:39666200-39696600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:39667000-39694600	Weak transcription	HSMMtube	muscle
6	chr2:39667200-39694600	Weak transcription	NHLF	lung
7	chr2:39667200-39694800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:39667200-39696400	Weak transcription	Fetal Heart	heart
9	chr2:39667400-39694600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:39667400-39694600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:39668200-39694800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:39668200-39696800	Weak transcription	Right Ventricle	heart
13	chr2:39675000-39696400	Weak transcription	Fetal Kidney	kidney
14	chr2:39675400-39694600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:39678000-39696800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:39678200-39694600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:39682200-39695600	Weak transcription	Fetal Brain Male	brain
18	chr2:39682400-39694600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:39682600-39694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:39682600-39695600	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:39682600-39695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:39682800-39694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:39682800-39694600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:39683000-39694600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:39683200-39694400	Weak transcription	HepG2	liver
26	chr2:39683200-39694600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:39683200-39694600	Weak transcription	Ovary	ovary
28	chr2:39683200-39694800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:39683400-39694800	Weak transcription	NH-A	brain
30	chr2:39685200-39694800	Weak transcription	Gastric	stomach
31	chr2:39685200-39705000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:39685800-39694400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:39685800-39696000	Weak transcription	Left Ventricle	heart
34	chr2:39686200-39694400	Weak transcription	NHDF-Ad	bronchial
35	chr2:39686200-39694600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:39686200-39694600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:39686200-39694800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:39686200-39694800	Weak transcription	Aorta	Aorta
39	chr2:39686400-39694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:39686800-39694600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:39687400-39694600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:39687400-39695200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:39687600-39694600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:39687600-39694600	Weak transcription	HSMM	muscle
45	chr2:39687600-39694800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:39688600-39703400	Weak transcription	Liver	Liver
47	chr2:39689800-39694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:39690000-39694400	Weak transcription	Psoas Muscle	Psoas
49	chr2:39691000-39695800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:39691400-39695600	Weak transcription	Fetal Stomach	stomach

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