Variant report

Variant	rs72932012
Chromosome Location	chr2:39710331-39710332
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	chr2:39709054..39711333-chr2:39713452..39715456,2	MCF-7	breast:

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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307566	1.00[AMR][1000 genomes]
rs61570293	0.92[AFR][1000 genomes];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]
rs72930099	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]
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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39696600-39711600	Weak transcription	Fetal Brain Female	brain
2	chr2:39697200-39711200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39697200-39711400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:39697200-39711800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39697200-39713200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:39697400-39710400	Weak transcription	K562	blood
7	chr2:39697400-39710800	Weak transcription	Fetal Lung	lung
8	chr2:39697400-39711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:39697400-39711200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:39697400-39715400	Weak transcription	Pancreas	Pancrea
11	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
12	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
13	chr2:39697400-39724200	Weak transcription	Gastric	stomach
14	chr2:39697600-39714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:39697600-39714600	Weak transcription	Fetal Kidney	kidney
16	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:39703400-39713200	Weak transcription	HSMMtube	muscle
18	chr2:39705200-39710600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:39705400-39711200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:39705400-39711600	Weak transcription	Liver	Liver
21	chr2:39705400-39719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:39705600-39710600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:39705600-39711200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:39705600-39711200	Weak transcription	Aorta	Aorta
25	chr2:39705600-39711200	Weak transcription	Left Ventricle	heart
26	chr2:39705600-39711400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:39705600-39713000	Weak transcription	Placenta	Placenta
28	chr2:39705600-39715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:39705600-39719000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:39705600-39721600	Weak transcription	Psoas Muscle	Psoas
31	chr2:39705800-39711200	Weak transcription	Ovary	ovary
32	chr2:39705800-39712000	Weak transcription	HepG2	liver
33	chr2:39705800-39713400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:39706000-39711200	Weak transcription	Right Atrium	heart
35	chr2:39706000-39714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:39706200-39710400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:39706200-39715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:39706400-39711800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:39707200-39710800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:39707400-39710400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
42	chr2:39708200-39711200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:39708200-39715400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:39708400-39711200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:39709000-39710800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:39709200-39710400	Weak transcription	NH-A	brain
47	chr2:39709200-39710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:39709200-39710600	Weak transcription	A549	lung
49	chr2:39709200-39710600	Weak transcription	HSMM	muscle
50	chr2:39709200-39710600	Enhancers	HUVEC	blood vessel

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