Variant report

Variant	rs11865041
Chromosome Location	chr16:30580494-30580495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr16:30580474-30580855	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr16:30580279-30580963	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
2	chr16:30455900..30458038-chr16:30579510..30581211,2	MCF-7	breast:
3	chr16:30429306..30432193-chr16:30579600..30582351,3	MCF-7	breast:
4	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
5	chr16:30578776..30581177-chr16:30709998..30712517,2	MCF-7	breast:
6	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
7	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
8	chr16:30579675..30583184-chr16:30709142..30711294,3	K562	blood:
9	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
10	chr16:30578517..30580909-chr16:30669306..30670937,2	K562	blood:
11	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
12	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
13	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:
14	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239791	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000199787	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11860431	1.00[AMR][1000 genomes]
rs11866017	1.00[AMR][1000 genomes]
rs11867032	0.83[AMR][1000 genomes]
rs17839547	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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30570200-30580800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:30570200-30581200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:30570400-30581600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30573000-30580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:30573000-30580600	Weak transcription	Fetal Intestine Small	intestine
6	chr16:30573000-30581400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:30573000-30581400	Weak transcription	Fetal Intestine Large	intestine
8	chr16:30573000-30581400	Weak transcription	Fetal Lung	lung
9	chr16:30573000-30581600	Weak transcription	Brain Substantia Nigra	brain
10	chr16:30573000-30581800	Weak transcription	Brain Angular Gyrus	brain
11	chr16:30573000-30581800	Weak transcription	Fetal Brain Female	brain
12	chr16:30573000-30582200	Weak transcription	Aorta	Aorta
13	chr16:30573000-30582200	Weak transcription	NH-A	brain
14	chr16:30573200-30580600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:30573200-30581000	Weak transcription	Right Ventricle	heart
16	chr16:30573200-30581400	Weak transcription	Psoas Muscle	Psoas
17	chr16:30573200-30582200	Weak transcription	Esophagus	oesophagus
18	chr16:30573400-30580800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:30573400-30581200	Weak transcription	Right Atrium	heart
20	chr16:30573400-30581600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:30573400-30581600	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:30573600-30580800	Weak transcription	Adipose Nuclei	Adipose
23	chr16:30573600-30581000	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:30573600-30581400	Weak transcription	Gastric	stomach
25	chr16:30573600-30581400	Weak transcription	Pancreas	Pancrea
26	chr16:30573600-30581400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:30573600-30581600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:30573600-30581600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:30573800-30581400	Weak transcription	Colonic Mucosa	Colon
30	chr16:30573800-30581400	Weak transcription	Lung	lung
31	chr16:30575000-30581200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:30577200-30581200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:30577600-30581600	Weak transcription	Fetal Kidney	kidney
34	chr16:30578000-30580600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:30578000-30580800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:30578200-30580600	Enhancers	HMEC	breast
37	chr16:30578200-30581800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:30578400-30582200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr16:30578400-30582200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr16:30578400-30582200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr16:30578600-30580800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr16:30578600-30582200	Enhancers	Primary B cells from peripheral blood	blood
43	chr16:30578600-30582200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:30578800-30581200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:30578800-30581800	Enhancers	Primary B cells from cord blood	blood
46	chr16:30578800-30581800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:30578800-30582200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:30579000-30580600	Enhancers	Primary hematopoietic stem cells	blood
49	chr16:30579000-30580600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:30579000-30581200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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