Variant report

Variant	rs73590035
Chromosome Location	chr16:71970970-71970971
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	chr16:71967972..71970520-chr16:71970736..71973104,2	K562	blood:
2	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13334617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337119	1.00[AMR][1000 genomes]
rs28431030	0.92[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523974	1.00[AFR][1000 genomes]
rs28711364	1.00[AMR][1000 genomes]
rs59358880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	1.00[AMR][1000 genomes]
rs7191105	1.00[AMR][1000 genomes]
rs7198387	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202000	1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	1.00[AMR][1000 genomes]
rs73582274	1.00[AMR][1000 genomes]
rs73582278	1.00[AMR][1000 genomes]
rs73582282	1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	1.00[AMR][1000 genomes]
rs73590039	0.97[AFR][1000 genomes]
rs73590051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9673858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	1.00[AMR][1000 genomes]
rs9923213	1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932715	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	1.00[AMR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71956800-71971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71962000-71971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:71962600-71972000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71963200-71972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:71963200-71972800	Weak transcription	Right Ventricle	heart
6	chr16:71964000-71971000	Weak transcription	Ovary	ovary
7	chr16:71964000-71971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:71964200-71972000	Weak transcription	Psoas Muscle	Psoas
9	chr16:71964600-71971000	Weak transcription	HMEC	breast
10	chr16:71964800-71971200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:71968200-71971600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr16:71968400-71976400	Weak transcription	K562	blood
13	chr16:71968600-71971000	Weak transcription	A549	lung
14	chr16:71968600-71971200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:71968600-71971600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:71968600-71971800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:71968600-71972600	Weak transcription	Left Ventricle	heart
18	chr16:71968800-71971000	Weak transcription	Brain Substantia Nigra	brain
19	chr16:71968800-71971000	Weak transcription	Gastric	stomach
20	chr16:71968800-71971600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:71968800-71971800	Weak transcription	Dnd41	blood
22	chr16:71968800-71972000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:71968800-71972400	Weak transcription	Fetal Intestine Small	intestine
24	chr16:71968800-71972400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
26	chr16:71969000-71971000	Weak transcription	GM12878-XiMat	blood
27	chr16:71969000-71971000	Weak transcription	Osteobl	bone
28	chr16:71969000-71971200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:71969000-71971200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:71969000-71971200	Weak transcription	Fetal Lung	lung
31	chr16:71969000-71971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:71969000-71971600	Weak transcription	HepG2	liver
33	chr16:71969000-71971800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:71969200-71971000	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:71969200-71971200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:71969200-71971600	Weak transcription	Thymus	Thymus
37	chr16:71969200-71972200	Weak transcription	Primary B cells from cord blood	blood
38	chr16:71969200-71976000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:71969400-71971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:71969400-71971000	Weak transcription	NH-A	brain
41	chr16:71969400-71971200	Weak transcription	NHLF	lung
42	chr16:71969400-71971400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:71969400-71971800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:71969400-71972000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:71969400-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:71969600-71971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:71969600-71971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:71969600-71971000	Weak transcription	Lung	lung
49	chr16:71969600-71971200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71969600-71971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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