Variant report

Variant	rs8045293
Chromosome Location	chr16:30818459-30818460
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30816280..30819245-chr16:31129948..31132814,2	K562	blood:
2	chr16:30797708..30801530-chr16:30815356..30818567,4	K562	blood:
3	chr16:30786387..30788885-chr16:30817095..30819249,4	K562	blood:
4	chr16:30816360..30819026-chr16:30906780..30909255,2	K562	blood:
5	chr16:30815583..30820055-chr16:30823103..30827035,12	MCF-7	breast:
6	chr16:30709415..30711548-chr16:30816868..30818982,3	K562	blood:
7	chr16:30814804..30819146-chr16:30884683..30888592,6	MCF-7	breast:
8	chr16:30795066..30800356-chr16:30815303..30822232,38	MCF-7	breast:
9	chr16:30786896..30788399-chr16:30817095..30819467,2	K562	blood:
10	chr16:30817154..30820874-chr16:30824178..30827493,4	K562	blood:
11	chr16:30815220..30818805-chr16:30903987..30908642,7	MCF-7	breast:
12	chr16:30816905..30818572-chr16:30853615..30856122,3	MCF-7	breast:
13	chr16:30816866..30818578-chr16:30884838..30889121,3	MCF-7	breast:
14	chr16:30802488..30809152-chr16:30815152..30818622,8	MCF-7	breast:
15	chr16:30817154..30820688-chr16:30821822..30825737,4	K562	blood:
16	chr16:30770612..30775392-chr16:30814901..30819311,7	MCF-7	breast:
17	chr16:30786103..30792958-chr16:30815720..30820350,14	MCF-7	breast:
18	chr16:30771133..30773580-chr16:30817953..30819677,2	K562	blood:
19	chr16:30815766..30818502-chr16:30968235..30970702,3	MCF-7	breast:
20	chr16:30789931..30791663-chr16:30816269..30818821,2	K562	blood:
21	chr16:30797148..30800499-chr16:30815356..30818471,7	K562	blood:
22	chr16:30706829..30711705-chr16:30815452..30818911,6	MCF-7	breast:
23	chr16:30794424..30800476-chr16:30814931..30820153,40	MCF-7	breast:
24	chr16:30815431..30819156-chr16:30931528..30936113,9	MCF-7	breast:
25	chr16:30785863..30791311-chr16:30814825..30818716,8	MCF-7	breast:
26	chr16:30789931..30792790-chr16:30816269..30820303,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265991	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000103549	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12596394	0.83[AFR][1000 genomes]
rs12598056	0.85[AFR][1000 genomes]
rs12931844	0.85[AFR][1000 genomes]
rs4007812	0.82[AFR][1000 genomes]
rs4268760	0.90[AFR][1000 genomes]
rs4617878	0.85[AFR][1000 genomes]
rs4889507	0.80[AFR][1000 genomes]
rs57489882	0.81[AFR][1000 genomes]
rs57877247	0.83[AFR][1000 genomes]
rs71380412	0.86[AFR][1000 genomes]
rs8045624	0.93[AFR][1000 genomes]
rs8056105	0.81[AFR][1000 genomes]
rs893926	0.83[AFR][1000 genomes]
rs893927	0.85[AFR][1000 genomes]
rs9921630	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription 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 miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
13	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
14	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30816400-30818600	Active TSS	Right Ventricle	heart
2	chr16:30816400-30818800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:30816400-30818800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr16:30816400-30818800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr16:30816800-30818600	Active TSS	Ovary	ovary
6	chr16:30816800-30818800	Active TSS	Brain Substantia Nigra	brain
7	chr16:30817400-30818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:30817800-30820400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr16:30817800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:30818000-30818600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:30818000-30818600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:30818000-30818600	Enhancers	HSMMtube	muscle
13	chr16:30818000-30818600	Enhancers	K562	blood
14	chr16:30818000-30818800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:30818000-30818800	Enhancers	Primary B cells from cord blood	blood
16	chr16:30818000-30818800	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:30818000-30818800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr16:30818000-30818800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:30818000-30818800	Active TSS	Colonic Mucosa	Colon
20	chr16:30818000-30818800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr16:30818000-30818800	Active TSS	HepG2	liver
22	chr16:30818000-30818800	Enhancers	HUVEC	blood vessel
23	chr16:30818000-30819000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:30818000-30819000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:30818000-30819000	Enhancers	Brain Angular Gyrus	brain
26	chr16:30818000-30819000	Enhancers	Fetal Heart	heart
27	chr16:30818000-30819000	Enhancers	Fetal Stomach	stomach
28	chr16:30818000-30819000	Enhancers	NHDF-Ad	bronchial
29	chr16:30818000-30823000	Weak transcription	Fetal Brain Female	brain
30	chr16:30818000-30825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:30818000-30825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr16:30818000-30825000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:30818000-30825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:30818000-30825400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:30818200-30818600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:30818200-30818600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:30818200-30818600	Active TSS	Fetal Intestine Small	intestine
38	chr16:30818200-30818600	Active TSS	Fetal Muscle Trunk	muscle
39	chr16:30818200-30818600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr16:30818200-30818600	Enhancers	NH-A	brain
41	chr16:30818200-30818800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr16:30818200-30818800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:30818200-30818800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:30818200-30818800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:30818200-30818800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:30818200-30818800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:30818200-30818800	Enhancers	Liver	Liver
48	chr16:30818200-30818800	Enhancers	Colon Smooth Muscle	Colon
49	chr16:30818200-30818800	Active TSS	Fetal Intestine Large	intestine
50	chr16:30818200-30818800	Active TSS	Fetal Lung	lung

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