Variant report

Variant	rs12928081
Chromosome Location	chr16:30885159-30885160
allele	G/T
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:15)
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	POLR2A	chr16:30884692-30885925	K562	blood:	n/a	n/a
2	POLR2A	chr16:30884583-30885217	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
2	chr16:30884496..30886170-chr16:30888380..30890478,2	K562	blood:
3	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
4	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
5	chr16:30885123..30887354-chr16:30932881..30934600,2	K562	blood:
6	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
7	chr16:30866900..30870320-chr16:30883342..30886355,3	MCF-7	breast:
8	chr16:30797430..30800037-chr16:30885102..30887908,3	K562	blood:
9	chr16:30796927..30799573-chr16:30884313..30888213,5	MCF-7	breast:
10	chr16:30885095..30888093-chr16:30931834..30934580,5	MCF-7	breast:
11	chr16:30772557..30775902-chr16:30885131..30888267,4	MCF-7	breast:
12	chr16:30788458..30791289-chr16:30883850..30886177,2	K562	blood:
13	chr16:30885110..30887739-chr16:30951914..30954479,2	MCF-7	breast:
14	chr16:30884464..30890146-chr16:30902796..30909297,24	K562	blood:
15	chr16:30885130..30887903-chr16:30968069..30970202,3	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4519	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000099381	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11150599	0.89[ASN][1000 genomes]
rs11647697	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11862962	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12920259	0.95[ASN][1000 genomes]
rs12926295	0.95[ASN][1000 genomes]
rs12929065	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12930944	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2125293	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168834	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2335013	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2878304	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34840035	0.85[EUR][1000 genomes]
rs4290486	0.95[ASN][1000 genomes]
rs4889534	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889614	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889622	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889627	0.87[ASN][1000 genomes]
rs4889630	0.89[ASN][1000 genomes]
rs4889634	0.81[ASN][1000 genomes]
rs4889651	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55719146	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56083427	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67264578	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67456613	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72799330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8050107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8059475	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8063565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897984	0.95[ASN][1000 genomes]
rs9796842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9933843	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
11	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
12	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
13	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
14	esv3327162	chr16:30885153-30885329	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:30856200-30885800	Weak transcription	NH-A	brain
3	chr16:30856800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:30856800-30885600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:30856800-30885600	Weak transcription	Esophagus	oesophagus
6	chr16:30856800-30885600	Weak transcription	Spleen	Spleen
7	chr16:30856800-30885800	Weak transcription	Brain Angular Gyrus	brain
8	chr16:30857000-30885400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:30857000-30885600	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:30858800-30885800	Weak transcription	NHDF-Ad	bronchial
11	chr16:30863600-30885600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:30865400-30885800	Weak transcription	Fetal Kidney	kidney
13	chr16:30865600-30885400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:30865600-30885600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:30866000-30885600	Weak transcription	Fetal Lung	lung
16	chr16:30866400-30885600	Weak transcription	Brain Anterior Caudate	brain
17	chr16:30866600-30885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:30868400-30885600	Weak transcription	Fetal Heart	heart
19	chr16:30870600-30885600	Weak transcription	Hela-S3	cervix
20	chr16:30870600-30885600	Weak transcription	Osteobl	bone
21	chr16:30875000-30885400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:30875200-30885400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:30875600-30885600	Weak transcription	Fetal Intestine Large	intestine
24	chr16:30877400-30885600	Weak transcription	Right Ventricle	heart
25	chr16:30878600-30885600	Weak transcription	A549	lung
26	chr16:30880200-30885600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:30880400-30885400	Weak transcription	HUVEC	blood vessel
28	chr16:30880600-30885600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:30881200-30885600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:30881800-30885600	Weak transcription	HSMM	muscle
31	chr16:30882000-30885400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:30882000-30885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:30882000-30885800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:30882000-30885800	Weak transcription	Gastric	stomach
35	chr16:30882400-30885600	Weak transcription	Thymus	Thymus
36	chr16:30882600-30885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:30882600-30885600	Weak transcription	Psoas Muscle	Psoas
38	chr16:30882800-30885400	Weak transcription	Colonic Mucosa	Colon
39	chr16:30882800-30885600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:30883000-30885600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:30883200-30885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:30883400-30885600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:30883400-30885800	Weak transcription	Brain Substantia Nigra	brain
44	chr16:30883600-30885800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:30884000-30885600	Weak transcription	Liver	Liver
46	chr16:30884000-30885600	Weak transcription	Lung	lung
47	chr16:30884000-30885600	Weak transcription	Pancreas	Pancrea
48	chr16:30884200-30885400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:30884200-30885400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:30884200-30885400	Weak transcription	Fetal Stomach	stomach

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