Variant report

Variant	rs543317932
Chromosome Location	chr7:47708927-47708928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47704100..47706174-chr7:47707596..47709114,2	MCF-7	breast:
2	chr7:47672802..47676039-chr7:47707333..47710089,3	MCF-7	breast:
3	chr7:47620142..47622766-chr7:47707651..47710546,2	MCF-7	breast:
4	chr7:47662894..47665342-chr7:47707411..47709847,2	MCF-7	breast:
5	chr7:47691927..47694720-chr7:47708904..47710828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3477663	chr7:47706827-47711425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3477665	chr7:47706827-47711425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3413769	chr7:47707627-47710525	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv3326735	chr7:47708700-47709580	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47701600-47709000	Weak transcription	Lung	lung
3	chr7:47703800-47709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
5	chr7:47705200-47709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:47706000-47721600	Enhancers	Placenta	Placenta
7	chr7:47706200-47709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:47706600-47709000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:47706600-47709000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:47706800-47709000	Weak transcription	NHLF	lung
11	chr7:47706800-47709200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
13	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:47707800-47709000	Enhancers	Primary B cells from cord blood	blood
15	chr7:47708400-47709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:47708400-47709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:47708400-47709400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:47708400-47709600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:47708400-47710000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:47708400-47710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:47708400-47711800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:47708600-47709000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:47708600-47709000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:47708600-47709200	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:47708600-47709600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:47708600-47709600	Enhancers	Adipose Nuclei	Adipose
27	chr7:47708600-47709600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:47708600-47709800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:47708600-47709800	Enhancers	Aorta	Aorta
30	chr7:47708600-47709800	Enhancers	K562	blood
31	chr7:47708600-47710000	Enhancers	A549	lung
32	chr7:47708600-47710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:47708600-47710600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:47708600-47710600	Enhancers	HSMM	muscle
35	chr7:47708600-47710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:47708600-47711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:47708600-47711600	Enhancers	Fetal Thymus	thymus
40	chr7:47708800-47709000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:47708800-47709200	Enhancers	Liver	Liver
42	chr7:47708800-47709200	Enhancers	Psoas Muscle	Psoas
43	chr7:47708800-47709200	Enhancers	Right Ventricle	heart
44	chr7:47708800-47709200	Enhancers	Spleen	Spleen
45	chr7:47708800-47709400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:47708800-47709400	Enhancers	Left Ventricle	heart
47	chr7:47708800-47709400	Enhancers	Pancreas	Pancrea
48	chr7:47708800-47709400	Enhancers	Right Atrium	heart
49	chr7:47708800-47709400	Enhancers	HSMMtube	muscle
50	chr7:47708800-47709400	Enhancers	Osteobl	bone

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