Variant report

Variant	rs16951148
Chromosome Location	chr16:79750899-79750900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12325149	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs16950971	0.87[EUR][1000 genomes]
rs16950996	0.87[EUR][1000 genomes]
rs16951099	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16951102	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16951117	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16951124	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16951131	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58619341	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59304063	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59745782	0.96[ASN][1000 genomes]
rs60684877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73575092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575101	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73577112	0.96[ASN][1000 genomes]
rs74037503	0.87[EUR][1000 genomes]
rs74037511	0.87[EUR][1000 genomes]
rs74037512	0.87[EUR][1000 genomes]
rs74037535	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79746800-79751600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr16:79747000-79751800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr16:79748000-79756200	Weak transcription	Gastric	stomach
4	chr16:79748200-79760400	Enhancers	Fetal Intestine Small	intestine
5	chr16:79748400-79752200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:79748400-79752200	Enhancers	Fetal Lung	lung
7	chr16:79748400-79752400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:79748400-79760800	Enhancers	Fetal Intestine Large	intestine
9	chr16:79749000-79754800	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:79749400-79751600	Enhancers	Aorta	Aorta
11	chr16:79749400-79751800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:79749800-79754000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:79749800-79754400	Weak transcription	Liver	Liver
14	chr16:79749800-79754800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
16	chr16:79750000-79752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:79750200-79751200	Enhancers	HSMMtube	muscle
18	chr16:79750200-79751400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:79750200-79752000	Enhancers	Primary hematopoietic stem cells	blood
20	chr16:79750200-79752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:79750400-79751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:79750400-79751000	Enhancers	Fetal Heart	heart
23	chr16:79750400-79752000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:79750400-79752200	Enhancers	Fetal Kidney	kidney
25	chr16:79750400-79752200	Enhancers	Fetal Muscle Leg	muscle
26	chr16:79750600-79751200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:79750600-79751200	Enhancers	K562	blood
28	chr16:79750600-79752000	Enhancers	NHDF-Ad	bronchial
29	chr16:79750600-79752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:79750600-79752400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:79750800-79751000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:79750800-79751200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:79750800-79751400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:79750800-79751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:79750800-79751400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:79750800-79751600	Enhancers	Thymus	Thymus
37	chr16:79750800-79754600	Weak transcription	Ovary	ovary

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