Variant report

Variant	rs74024193
Chromosome Location	chr16:70333300-70333301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
2	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
3	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
4	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
5	chr16:70332853..70335232-chr16:70378695..70381623,2	K562	blood:
6	chr16:70326803..70329805-chr16:70331309..70336594,5	K562	blood:
7	chr16:70332912..70333612-chr3:149530099..149530917,2	Hela-S3	cervix:
8	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090861	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11537667	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859191	0.81[AMR][1000 genomes]
rs11859257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859730	0.90[AMR][1000 genomes]
rs11859827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860870	0.98[AFR][1000 genomes]
rs11860922	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861097	0.81[AMR][1000 genomes]
rs11862053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866451	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.86[AFR][1000 genomes]
rs16970361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970609	0.97[AFR][1000 genomes]
rs2869156	1.00[AMR][1000 genomes]
rs3972037	0.89[AMR][1000 genomes]
rs3972075	0.90[AMR][1000 genomes]
rs55657328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55819743	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936739	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55963712	0.81[AMR][1000 genomes]
rs55965002	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55971559	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043981	0.97[AFR][1000 genomes]
rs56051513	0.90[AMR][1000 genomes]
rs56090000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096542	0.94[AFR][1000 genomes]
rs56217164	0.97[AFR][1000 genomes]
rs56234537	0.97[AFR][1000 genomes]
rs57279408	0.97[AFR][1000 genomes]
rs57320283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57422630	0.86[AFR][1000 genomes]
rs57623576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58055772	0.86[AFR][1000 genomes]
rs58131227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58319566	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.89[AFR][1000 genomes]
rs59384897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59612351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59769732	1.00[AMR][1000 genomes]
rs59791510	0.97[AFR][1000 genomes]
rs59849898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.89[AFR][1000 genomes]
rs60103946	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60426209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60463946	1.00[AMR][1000 genomes]
rs60523557	0.97[AFR][1000 genomes]
rs60567469	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60841206	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61172065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61266247	0.81[AFR][1000 genomes]
rs61391917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61594809	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499307	0.81[AMR][1000 genomes]
rs6499309	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7184248	0.94[AFR][1000 genomes]
rs7185665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189535	0.81[AMR][1000 genomes]
rs7190921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195567	0.97[AFR][1000 genomes]
rs7198871	0.81[AMR][1000 genomes]
rs7204800	0.94[AFR][1000 genomes]
rs7205871	0.94[AFR][1000 genomes]
rs7205990	0.86[AFR][1000 genomes]
rs74024172	0.90[AMR][1000 genomes]
rs74024176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024177	1.00[AMR][1000 genomes]
rs74024180	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024182	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024183	0.81[AMR][1000 genomes]
rs74024184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024199	0.97[AFR][1000 genomes]
rs74024200	0.97[AFR][1000 genomes]
rs8044699	0.90[AMR][1000 genomes]
rs8045571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045769	0.90[AMR][1000 genomes]
rs8046280	0.92[AFR][1000 genomes]
rs8046662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051869	0.89[AFR][1000 genomes]
rs8053040	0.97[AFR][1000 genomes]
rs8053657	0.80[AFR][1000 genomes]
rs8055675	0.81[AMR][1000 genomes]
rs8056196	0.81[AMR][1000 genomes]
rs8063749	0.97[AFR][1000 genomes];1.00[AMR][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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70332400-70333400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr16:70332400-70333600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:70332400-70334000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:70332400-70334000	Active TSS	Colonic Mucosa	Colon
5	chr16:70332400-70334000	Active TSS	Fetal Kidney	kidney
6	chr16:70332400-70334000	Active TSS	HSMM	muscle
7	chr16:70332400-70334000	Active TSS	NHDF-Ad	bronchial
8	chr16:70332400-70334200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:70332400-70334200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:70332600-70333400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr16:70332600-70333600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:70332600-70333600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:70332600-70333800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr16:70332600-70333800	Active TSS	Primary B cells from cord blood	blood
15	chr16:70332600-70333800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:70332600-70333800	Active TSS	Aorta	Aorta
17	chr16:70332600-70334000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr16:70332600-70334000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:70332600-70334000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:70332600-70334000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr16:70332600-70334000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:70332600-70334000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr16:70332600-70334000	Active TSS	Brain Germinal Matrix	brain
24	chr16:70332600-70334000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr16:70332600-70334000	Active TSS	Fetal Muscle Trunk	muscle
26	chr16:70332600-70334000	Active TSS	Right Ventricle	heart
27	chr16:70332600-70334000	Active TSS	A549	lung
28	chr16:70332600-70334200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:70332600-70334200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:70332600-70334200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr16:70332600-70334400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr16:70332600-70334600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr16:70332800-70333400	Active TSS	Liver	Liver
34	chr16:70332800-70333400	Active TSS	Stomach Smooth Muscle	stomach
35	chr16:70332800-70333600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:70332800-70333600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:70332800-70333600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr16:70332800-70333600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:70332800-70333600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:70332800-70333600	Active TSS	Brain Hippocampus Middle	brain
41	chr16:70332800-70333600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:70332800-70333600	Active TSS	Fetal Muscle Leg	muscle
43	chr16:70332800-70333600	Active TSS	Placenta	Placenta
44	chr16:70332800-70333600	Active TSS	Pancreas	Pancrea
45	chr16:70332800-70333600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr16:70332800-70333800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr16:70332800-70333800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:70332800-70333800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:70332800-70333800	Active TSS	Brain Anterior Caudate	brain
50	chr16:70332800-70333800	Active TSS	Fetal Intestine Large	intestine

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