Variant report

Variant	rs2040507
Chromosome Location	chr16:73023587-73023588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73022944..73025430-chr16:73077446..73079033,2	MCF-7	breast:
2	chr16:73009653..73012489-chr16:73021292..73023966,2	MCF-7	breast:
3	chr16:73021930..73023621-chr16:73025103..73026718,2	MCF-7	breast:
4	chr16:73017968..73019838-chr16:73022317..73024082,2	MCF-7	breast:
5	chr16:73022117..73028240-chr16:73079651..73083166,6	MCF-7	breast:
6	chr16:72959386..72961957-chr16:73021610..73023717,2	MCF-7	breast:
7	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
8	chr16:72881169..72883410-chr16:73021956..73023958,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221799	Chromatin interaction
ENSG00000272250	Chromatin interaction
ENSG00000271009	Chromatin interaction
ENSG00000140836	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11640395	1.00[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs16971465	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs55810200	0.92[ASN][1000 genomes]
rs56404375	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73594707	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs9937546	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73013200-73023600	Weak transcription	Small Intestine	intestine
2	chr16:73015200-73026200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:73015800-73024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:73016800-73028000	Enhancers	Left Ventricle	heart
5	chr16:73017200-73023800	Enhancers	Fetal Muscle Leg	muscle
6	chr16:73017200-73025400	Weak transcription	Fetal Kidney	kidney
7	chr16:73017400-73024600	Enhancers	Pancreas	Pancrea
8	chr16:73018200-73023600	Weak transcription	Fetal Intestine Large	intestine
9	chr16:73018200-73023800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:73019000-73027200	Enhancers	Lung	lung
11	chr16:73019000-73035200	Enhancers	Placenta	Placenta
12	chr16:73019400-73024800	Enhancers	Right Ventricle	heart
13	chr16:73019600-73025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:73019800-73023600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:73019800-73023600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:73019800-73024000	Enhancers	Colon Smooth Muscle	Colon
17	chr16:73019800-73024000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:73019800-73031800	Enhancers	Fetal Lung	lung
19	chr16:73020200-73023800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:73020200-73024000	Weak transcription	Fetal Brain Male	brain
21	chr16:73020400-73023800	Enhancers	HMEC	breast
22	chr16:73020400-73024800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:73020600-73023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:73020600-73026000	Weak transcription	Ovary	ovary
25	chr16:73020800-73027800	Enhancers	Liver	Liver
26	chr16:73021000-73023800	Weak transcription	Fetal Intestine Small	intestine
27	chr16:73021400-73023800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:73021400-73024000	Weak transcription	Fetal Thymus	thymus
29	chr16:73021800-73023800	Enhancers	HSMMtube	muscle
30	chr16:73022000-73024800	Enhancers	Fetal Muscle Trunk	muscle
31	chr16:73022200-73023800	Enhancers	Rectal Smooth Muscle	rectum
32	chr16:73022200-73024200	Enhancers	Brain Hippocampus Middle	brain
33	chr16:73022400-73024000	Weak transcription	Esophagus	oesophagus
34	chr16:73022600-73023800	Weak transcription	HepG2	liver
35	chr16:73022800-73027400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:73023000-73023600	Flanking Active TSS	Hela-S3	cervix
37	chr16:73023000-73023800	Weak transcription	Psoas Muscle	Psoas
38	chr16:73023000-73023800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr16:73023000-73024600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:73023200-73023600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:73023200-73023600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr16:73023200-73023600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:73023200-73023600	Enhancers	Colonic Mucosa	Colon
44	chr16:73023200-73023800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:73023200-73024200	Weak transcription	Aorta	Aorta
46	chr16:73023200-73024200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr16:73023200-73024200	Weak transcription	Right Atrium	heart
48	chr16:73023200-73024600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:73023200-73024600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:73023200-73024600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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