Variant report

Variant	rs41454046
Chromosome Location	chr16:69942965-69942966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16959200	1.00[TSI][hapmap];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]
rs4985456	0.80[YRI][hapmap]
rs5020405	1.00[EUR][1000 genomes]
rs55797947	1.00[EUR][1000 genomes]
rs56361851	1.00[EUR][1000 genomes]
rs57869957	0.87[AFR][1000 genomes];1.00[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	0.80[AFR][1000 genomes];0.85[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[TSI][hapmap];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	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73572193	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73576131	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576152	0.81[AFR][1000 genomes];0.83[AMR][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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs904802	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv33157	chr16:69940410-69943569	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
3	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:69913600-69950400	Weak transcription	A549	lung
5	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:69923800-69949200	Weak transcription	Dnd41	blood
7	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
8	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
10	chr16:69927400-69950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:69929600-69944600	Weak transcription	Gastric	stomach
12	chr16:69930800-69944600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:69934800-69946600	Strong transcription	Primary T cells from cord blood	blood
14	chr16:69934800-69946800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr16:69934800-69946800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:69935200-69946000	Strong transcription	Primary B cells from cord blood	blood
17	chr16:69935200-69955000	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:69935400-69951000	Weak transcription	Hela-S3	cervix
19	chr16:69936800-69943000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:69938800-69951400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:69939000-69944400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:69939000-69946800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
24	chr16:69939200-69945800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr16:69939400-69943200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:69939400-69943400	Weak transcription	Stomach Mucosa	stomach
27	chr16:69939400-69945000	Weak transcription	K562	blood
28	chr16:69939400-69951200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:69939400-69951200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:69939600-69967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:69939800-69951200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:69940400-69946000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:69940400-69958800	Weak transcription	Right Atrium	heart
34	chr16:69940800-69955000	Weak transcription	Psoas Muscle	Psoas
35	chr16:69941000-69945600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr16:69941000-69945800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:69941000-69946400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:69941200-69946400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:69941400-69945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:69941400-69951000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:69941400-69951200	Weak transcription	Osteobl	bone
42	chr16:69941600-69943000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:69941600-69943200	Weak transcription	NH-A	brain
44	chr16:69941600-69944600	Weak transcription	NHDF-Ad	bronchial
45	chr16:69941600-69946000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:69941600-69950400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:69941600-69951000	Weak transcription	HSMMtube	muscle
48	chr16:69941600-69951200	Weak transcription	HSMM	muscle
49	chr16:69941800-69946400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:69941800-69950600	Weak transcription	NHLF	lung

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