Variant report

Variant	rs72808532
Chromosome Location	chr2:47308271-47308272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47302270..47304198-chr2:47307298..47308850,2	MCF-7	breast:
2	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:
3	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
4	chr2:47304449..47306633-chr2:47306977..47308538,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11675425	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47300600-47310400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:47302200-47308400	Enhancers	Lung	lung
3	chr2:47302400-47308400	Enhancers	Placenta	Placenta
4	chr2:47302600-47308400	Enhancers	Stomach Mucosa	stomach
5	chr2:47303200-47308400	Enhancers	Pancreas	Pancrea
6	chr2:47303400-47308800	Enhancers	Adipose Nuclei	Adipose
7	chr2:47303800-47308400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:47304200-47310800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:47305200-47310000	Weak transcription	HMEC	breast
10	chr2:47305600-47308400	Enhancers	Fetal Intestine Large	intestine
11	chr2:47305800-47308400	Enhancers	Brain Hippocampus Middle	brain
12	chr2:47305800-47310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:47306000-47308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:47306800-47308400	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:47306800-47308400	Enhancers	Gastric	stomach
16	chr2:47307000-47310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:47307200-47308400	Enhancers	Liver	Liver
18	chr2:47307200-47310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:47307200-47310800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:47307200-47311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:47307200-47312200	Weak transcription	K562	blood
22	chr2:47307200-47313000	Weak transcription	Esophagus	oesophagus
23	chr2:47307200-47315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:47307400-47308400	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:47307400-47308400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:47307400-47308400	Enhancers	Spleen	Spleen
28	chr2:47307400-47308600	Weak transcription	Aorta	Aorta
29	chr2:47307400-47310000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:47307400-47310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:47307400-47310400	Weak transcription	Fetal Thymus	thymus
32	chr2:47307400-47312200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:47307400-47312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:47307400-47312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:47307400-47312400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:47307400-47312400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:47307600-47308400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:47307600-47308800	Enhancers	HepG2	liver
40	chr2:47307600-47310000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:47307600-47310000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:47307600-47310000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:47307600-47310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:47307600-47310200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:47307600-47310200	Weak transcription	Fetal Lung	lung
46	chr2:47307600-47310200	Weak transcription	Right Ventricle	heart
47	chr2:47307600-47310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:47307600-47310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:47307600-47310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:47307600-47310400	Weak transcription	Brain Substantia Nigra	brain

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