Variant report

Variant	rs62057229
Chromosome Location	chr16:30819473-30819474
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30815583..30820055-chr16:30823103..30827035,12	MCF-7	breast:
2	chr16:30816754..30818389-chr16:30819139..30820752,2	MCF-7	breast:
3	chr16:30795066..30800356-chr16:30815303..30822232,38	MCF-7	breast:
4	chr16:30817154..30820874-chr16:30824178..30827493,4	K562	blood:
5	chr16:30817154..30820688-chr16:30821822..30825737,4	K562	blood:
6	chr16:30786103..30792958-chr16:30815720..30820350,14	MCF-7	breast:
7	chr16:30771133..30773580-chr16:30817953..30819677,2	K562	blood:
8	chr16:30794424..30800476-chr16:30814931..30820153,40	MCF-7	breast:
9	chr16:30789931..30792790-chr16:30816269..30820303,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103549	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000102870	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1348039	1.00[AMR][1000 genomes]
rs1470129	1.00[AMR][1000 genomes]
rs1530201	1.00[AMR][1000 genomes]
rs2919428	1.00[AMR][1000 genomes]
rs2972805	1.00[AMR][1000 genomes]
rs2972806	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	1.00[AMR][1000 genomes]
rs4889506	1.00[AMR][1000 genomes]
rs55821738	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs59474645	1.00[AMR][1000 genomes]
rs61678005	1.00[AMR][1000 genomes]
rs6420450	1.00[AMR][1000 genomes]
rs7188927	1.00[AMR][1000 genomes]
rs74015010	1.00[AMR][1000 genomes]
rs74015011	1.00[AMR][1000 genomes]
rs74015012	1.00[AMR][1000 genomes]
rs74015056	1.00[AMR][1000 genomes]
rs893924	1.00[AMR][1000 genomes]
rs893925	1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30817800-30820400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:30817800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:30818000-30823000	Weak transcription	Fetal Brain Female	brain
4	chr16:30818000-30825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:30818000-30825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:30818000-30825000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:30818000-30825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:30818000-30825400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:30818200-30819600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:30818200-30825000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:30818200-30825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:30818200-30825000	Weak transcription	Adipose Nuclei	Adipose
13	chr16:30818200-30825000	Weak transcription	Brain Anterior Caudate	brain
14	chr16:30818200-30825000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:30818200-30825000	Weak transcription	A549	lung
16	chr16:30818200-30825000	Weak transcription	GM12878-XiMat	blood
17	chr16:30818200-30825000	Weak transcription	HMEC	breast
18	chr16:30818200-30825200	Weak transcription	Hela-S3	cervix
19	chr16:30818200-30825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:30818400-30825000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:30818600-30819600	Weak transcription	K562	blood
22	chr16:30818600-30825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:30818800-30819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:30818800-30820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:30818800-30820000	Weak transcription	NHEK	skin
26	chr16:30818800-30821600	Enhancers	HepG2	liver
27	chr16:30818800-30824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:30818800-30824000	Weak transcription	Primary B cells from cord blood	blood
29	chr16:30818800-30824200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:30818800-30825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:30818800-30825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:30818800-30825000	Weak transcription	Liver	Liver
33	chr16:30818800-30825000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr16:30818800-30825200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr16:30818800-30825200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:30818800-30825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:30818800-30825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:30818800-30825200	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:30818800-30825200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:30818800-30825200	Weak transcription	Osteobl	bone
41	chr16:30818800-30825400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:30819000-30820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:30819000-30824400	Weak transcription	Fetal Intestine Large	intestine
44	chr16:30819000-30824600	Weak transcription	Placenta	Placenta
45	chr16:30819000-30825000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:30819000-30825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:30819000-30825200	Weak transcription	Brain Angular Gyrus	brain
48	chr16:30819000-30825200	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:30819000-30825200	Weak transcription	Fetal Heart	heart
50	chr16:30819000-30825200	Weak transcription	Fetal Muscle Leg	muscle

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