Variant report

Variant	rs62043319
Chromosome Location	chr16:79750621-79750622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79744125..79746553-chr16:79748554..79750825,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAF-2	chr16:79749256-79750737	XLOC_012017
2	lnc-MAF-2	chr16:79749256-79750737	XLOC_012017
3	lnc-MAF-2	chr16:79748640-79750737	XLOC_012017
4	lnc-MAF-2	chr16:79749256-79750737	XLOC_012017

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16951122	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62043294	0.86[ASN][1000 genomes]
rs62043295	0.86[ASN][1000 genomes]
rs62043296	0.86[ASN][1000 genomes]
rs62043297	0.86[ASN][1000 genomes]
rs62043298	0.86[ASN][1000 genomes]
rs62043299	0.93[ASN][1000 genomes]
rs62043300	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043301	0.93[ASN][1000 genomes]
rs62043302	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043303	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043304	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043305	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043306	0.92[ASN][1000 genomes]
rs62043307	0.92[ASN][1000 genomes]
rs62043308	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62043309	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043310	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62043311	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043312	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043314	0.95[ASN][1000 genomes]
rs62043315	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043316	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62043317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043336	0.95[ASN][1000 genomes]
rs62043337	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043338	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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:33 , 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	chr16:79747800-79750800	Enhancers	Ovary	ovary
4	chr16:79748000-79756200	Weak transcription	Gastric	stomach
5	chr16:79748200-79760400	Enhancers	Fetal Intestine Small	intestine
6	chr16:79748400-79752200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:79748400-79752200	Enhancers	Fetal Lung	lung
8	chr16:79748400-79752400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:79748400-79760800	Enhancers	Fetal Intestine Large	intestine
10	chr16:79749000-79754800	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:79749400-79751600	Enhancers	Aorta	Aorta
12	chr16:79749400-79751800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:79749800-79754000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr16:79749800-79754400	Weak transcription	Liver	Liver
15	chr16:79749800-79754800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
17	chr16:79750000-79752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr16:79750200-79751200	Enhancers	HSMMtube	muscle
19	chr16:79750200-79751400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:79750200-79752000	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:79750200-79752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:79750400-79751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:79750400-79751000	Enhancers	Fetal Heart	heart
24	chr16:79750400-79752000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:79750400-79752200	Enhancers	Fetal Kidney	kidney
26	chr16:79750400-79752200	Enhancers	Fetal Muscle Leg	muscle
27	chr16:79750600-79750800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr16:79750600-79750800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:79750600-79751200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:79750600-79751200	Enhancers	K562	blood
31	chr16:79750600-79752000	Enhancers	NHDF-Ad	bronchial
32	chr16:79750600-79752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:79750600-79752400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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