Variant report

Variant	rs8061986
Chromosome Location	chr16:30622420-30622421
allele	C/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30440520..30443681-chr16:30620185..30624314,4	MCF-7	breast:
2	chr16:30620150..30623168-chr16:30660975..30663871,4	K562	blood:
3	chr16:30418204..30421021-chr16:30620059..30622629,3	MCF-7	breast:
4	chr16:30620863..30623072-chr16:30670310..30671873,2	MCF-7	breast:
5	chr16:30417863..30420745-chr16:30621572..30623873,2	K562	blood:
6	chr16:30454876..30459000-chr16:30619902..30623575,4	MCF-7	breast:
7	chr16:30594515..30599835-chr16:30618080..30622576,11	MCF-7	breast:
8	chr16:30581816..30584865-chr16:30620426..30623412,3	MCF-7	breast:
9	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
10	chr16:30365313..30367848-chr16:30618924..30623102,3	MCF-7	breast:
11	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
12	chr16:30455748..30458599-chr16:30620521..30623204,2	K562	blood:
13	chr16:30620581..30623168-chr16:30660975..30663614,3	K562	blood:
14	chr16:30453223..30457248-chr16:30618607..30623053,5	K562	blood:
15	chr16:30620868..30623265-chr16:30625688..30628872,3	K562	blood:
16	chr16:30581984..30585990-chr16:30619553..30622837,7	MCF-7	breast:
17	chr16:30536695..30540828-chr16:30620519..30623235,5	MCF-7	breast:
18	chr16:30568302..30571284-chr16:30621692..30624575,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235560	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000260678	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30621000-30622600	Active TSS	Hela-S3	cervix
2	chr16:30622000-30626600	Weak transcription	Fetal Lung	lung
3	chr16:30622000-30629200	Weak transcription	Lung	lung
4	chr16:30622200-30622600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:30622200-30622600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:30622200-30622600	Enhancers	Duodenum Mucosa	Duodenum
7	chr16:30622200-30622600	Enhancers	Fetal Brain Male	brain
8	chr16:30622200-30622800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:30622200-30622800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:30622200-30622800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:30622200-30622800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:30622200-30622800	Enhancers	Placenta	Placenta
13	chr16:30622200-30625200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:30622200-30625200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:30622200-30625200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:30622200-30625400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:30622200-30625800	Weak transcription	HepG2	liver
18	chr16:30622200-30626400	Weak transcription	Brain Germinal Matrix	brain
19	chr16:30622200-30626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:30622200-30626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:30622200-30626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:30622200-30626600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:30622200-30626600	Weak transcription	Fetal Kidney	kidney
24	chr16:30622200-30626600	Weak transcription	Fetal Muscle Leg	muscle
25	chr16:30622200-30626600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:30622200-30626600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:30622200-30626600	Weak transcription	A549	lung
28	chr16:30622200-30626600	Weak transcription	K562	blood
29	chr16:30622200-30626800	Weak transcription	Fetal Brain Female	brain
30	chr16:30622200-30626800	Weak transcription	Fetal Intestine Small	intestine
31	chr16:30622200-30629600	Weak transcription	Brain Angular Gyrus	brain
32	chr16:30622200-30630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:30622200-30630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:30622200-30630400	Weak transcription	Fetal Intestine Large	intestine
35	chr16:30622200-30630600	Weak transcription	HSMMtube	muscle
36	chr16:30622400-30622600	Enhancers	Brain Substantia Nigra	brain
37	chr16:30622400-30622800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr16:30622400-30622800	Flanking Active TSS	Dnd41	blood
39	chr16:30622400-30623000	Enhancers	GM12878-XiMat	blood
40	chr16:30622400-30623200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:30622400-30625200	Weak transcription	Primary B cells from cord blood	blood
42	chr16:30622400-30625200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:30622400-30625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:30622400-30625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30622400-30625400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:30622400-30625400	Weak transcription	Fetal Thymus	thymus
47	chr16:30622400-30626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:30622400-30626600	Weak transcription	Pancreas	Pancrea
49	chr16:30622400-30631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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