Variant report

Variant	rs73576131
Chromosome Location	chr16:69950342-69950343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69944756..69946601-chr16:69948566..69951085,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16959200	1.00[EUR][1000 genomes]
rs17842101	1.00[EUR][1000 genomes]
rs1820189	1.00[EUR][1000 genomes]
rs28533532	1.00[EUR][1000 genomes]
rs2868017	1.00[EUR][1000 genomes]
rs3927170	1.00[EUR][1000 genomes]
rs41454046	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5020405	1.00[EUR][1000 genomes]
rs55797947	1.00[EUR][1000 genomes]
rs56361851	1.00[EUR][1000 genomes]
rs57869957	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58008951	1.00[EUR][1000 genomes]
rs58342753	1.00[EUR][1000 genomes]
rs58909160	1.00[EUR][1000 genomes]
rs58970053	1.00[EUR][1000 genomes]
rs59118511	1.00[EUR][1000 genomes]
rs59740587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114701	1.00[EUR][1000 genomes]
rs60795760	1.00[EUR][1000 genomes]
rs60816774	1.00[EUR][1000 genomes]
rs61191725	1.00[EUR][1000 genomes]
rs61193693	1.00[EUR][1000 genomes]
rs61243105	1.00[EUR][1000 genomes]
rs61691323	1.00[EUR][1000 genomes]
rs6499285	1.00[EUR][1000 genomes]
rs6499290	1.00[EUR][1000 genomes]
rs6499294	1.00[EUR][1000 genomes]
rs689460	1.00[EUR][1000 genomes]
rs7188184	1.00[EUR][1000 genomes]
rs7188705	1.00[EUR][1000 genomes]
rs7197811	1.00[EUR][1000 genomes]
rs7198132	1.00[EUR][1000 genomes]
rs7205451	1.00[EUR][1000 genomes]
rs7205972	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73572193	1.00[EUR][1000 genomes]
rs73576152	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73580178	1.00[EUR][1000 genomes]
rs73582113	1.00[EUR][1000 genomes]
rs73582155	1.00[EUR][1000 genomes]
rs73582166	1.00[EUR][1000 genomes]
rs74028069	1.00[EUR][1000 genomes]
rs74028070	1.00[EUR][1000 genomes]
rs8043950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053447	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs904802	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:69913600-69950400	Weak transcription	A549	lung
4	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
5	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
7	chr16:69935200-69955000	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:69935400-69951000	Weak transcription	Hela-S3	cervix
9	chr16:69938800-69951400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
11	chr16:69939400-69951200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:69939400-69951200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:69939600-69967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:69939800-69951200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:69940400-69958800	Weak transcription	Right Atrium	heart
16	chr16:69940800-69955000	Weak transcription	Psoas Muscle	Psoas
17	chr16:69941400-69951000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr16:69941400-69951200	Weak transcription	Osteobl	bone
19	chr16:69941600-69950400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:69941600-69951000	Weak transcription	HSMMtube	muscle
21	chr16:69941600-69951200	Weak transcription	HSMM	muscle
22	chr16:69941800-69950600	Weak transcription	NHLF	lung
23	chr16:69941800-69951000	Weak transcription	HUVEC	blood vessel
24	chr16:69943200-69951200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:69943200-69951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:69943200-69965600	Weak transcription	Brain Germinal Matrix	brain
27	chr16:69943400-69951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:69943400-69951200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:69943400-69951200	Weak transcription	HMEC	breast
30	chr16:69943400-69958600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:69943400-69959400	Weak transcription	Pancreas	Pancrea
32	chr16:69943600-69950600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:69943600-69950600	Weak transcription	Fetal Lung	lung
34	chr16:69943600-69951000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:69943600-69951000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:69943600-69951200	Weak transcription	NHEK	skin
37	chr16:69943600-69951600	Weak transcription	Fetal Brain Female	brain
38	chr16:69943600-69951600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:69943600-69954800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:69943600-69954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:69943600-69955000	Weak transcription	Brain Angular Gyrus	brain
42	chr16:69943600-69958800	Weak transcription	Right Ventricle	heart
43	chr16:69943600-69965000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:69943600-69967000	Weak transcription	Small Intestine	intestine
45	chr16:69943800-69951200	Weak transcription	Left Ventricle	heart
46	chr16:69944000-69951000	Weak transcription	NH-A	brain
47	chr16:69944000-69957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:69944000-69959200	Weak transcription	Stomach Mucosa	stomach
49	chr16:69944000-69959600	Weak transcription	Fetal Thymus	thymus
50	chr16:69945000-69951200	Weak transcription	Adipose Nuclei	Adipose

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