Variant report

Variant	rs72932008
Chromosome Location	chr2:39705585-39705586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39704915..39706768-chr2:39716837..39719438,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57381261	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932003	0.83[AFR][1000 genomes]
rs72932025	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs759459	0.86[AFR][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:68 , 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	chr2:39697200-39706800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:39697200-39707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:39697200-39708600	Weak transcription	Stomach Mucosa	stomach
5	chr2:39697200-39709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:39697200-39711200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:39697200-39711400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:39697200-39711800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:39697200-39713200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:39697400-39706600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:39697400-39708600	Weak transcription	HSMM	muscle
12	chr2:39697400-39710400	Weak transcription	K562	blood
13	chr2:39697400-39710800	Weak transcription	Fetal Lung	lung
14	chr2:39697400-39711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:39697400-39711200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:39697400-39715400	Weak transcription	Pancreas	Pancrea
17	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
18	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
19	chr2:39697400-39724200	Weak transcription	Gastric	stomach
20	chr2:39697600-39714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:39697600-39714600	Weak transcription	Fetal Kidney	kidney
22	chr2:39698000-39708200	Weak transcription	HUVEC	blood vessel
23	chr2:39698000-39708400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:39698000-39708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:39698200-39706400	Weak transcription	Osteobl	bone
26	chr2:39698200-39708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:39698200-39708600	Weak transcription	NH-A	brain
28	chr2:39698200-39708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:39698200-39710200	Weak transcription	NHLF	lung
30	chr2:39701600-39705600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:39702800-39705600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:39702800-39705600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:39703000-39705800	Strong transcription	HepG2	liver
35	chr2:39703200-39705600	Strong transcription	Left Ventricle	heart
36	chr2:39703400-39713200	Weak transcription	HSMMtube	muscle
37	chr2:39703600-39705600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:39703800-39706000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:39704200-39705600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:39704200-39706600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:39704400-39706200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:39704600-39705600	Strong transcription	Psoas Muscle	Psoas
43	chr2:39704600-39705800	Strong transcription	Primary T cells from cord blood	blood
44	chr2:39704800-39705600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:39704800-39705600	Strong transcription	Placenta	Placenta
46	chr2:39704800-39705800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:39704800-39706200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:39705000-39705600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr2:39705000-39705600	Strong transcription	Adipose Nuclei	Adipose
50	chr2:39705000-39705600	Strong transcription	Aorta	Aorta

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