Variant report

Variant	rs8063565
Chromosome Location	chr16:30883965-30883966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr16:30883851-30884123	GM12878	blood:	n/a	n/a
2	EBF1	chr16:30883837-30883977	GM12878	blood:	n/a	n/a
3	EBF1	chr16:30883592-30884053	GM12878	blood:	n/a	n/a
4	SPI1	chr16:30883662-30883965	GM12878	blood:	n/a	n/a
5	RUNX3	chr16:30883623-30884064	GM12878	blood:	n/a	chr16:30883837-30883852
6	RUNX3	chr16:30883661-30884002	GM12878	blood:	n/a	chr16:30883837-30883852
7	IKZF1	chr16:30883732-30884034	GM12878	blood:	n/a	n/a
8	NFIC	chr16:30883619-30884110	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
2	chr16:30709388..30711381-chr16:30881416..30883988,2	MCF-7	breast:
3	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
4	chr16:30866900..30870320-chr16:30883342..30886355,3	MCF-7	breast:
5	chr16:30788458..30791289-chr16:30883850..30886177,2	K562	blood:
6	chr16:30882481..30884295-chr16:30884340..30887862,4	K562	blood:

Variant related genes	Relation type
MIR4519	TF binding region
ENSG00000211591	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000262026	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1046276	0.88[JPT][hapmap]
rs10871454	0.88[JPT][hapmap]
rs11150596	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11150599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11150604	0.88[JPT][hapmap]
rs11647697	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11649653	0.88[JPT][hapmap]
rs11862744	0.88[JPT][hapmap]
rs11862962	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11864054	0.82[CHB][hapmap]
rs12445650	0.86[JPT][hapmap]
rs12920259	0.97[ASN][1000 genomes]
rs12924903	0.88[JPT][hapmap]
rs12926237	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12926295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12928081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12929065	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930944	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458201	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs2125293	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2168834	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303223	0.88[JPT][hapmap]
rs2335013	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878304	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34840035	0.85[EUR][1000 genomes]
rs35468353	0.88[JPT][hapmap]
rs35675346	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs4290486	0.97[ASN][1000 genomes]
rs4889490	0.82[CHB][hapmap]
rs4889534	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889609	0.88[JPT][hapmap]
rs4889614	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889622	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889627	0.89[ASN][1000 genomes]
rs4889630	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4889634	0.83[ASN][1000 genomes]
rs4889651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55719146	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56083427	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565217	0.88[JPT][hapmap]
rs67264578	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67456613	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197717	0.88[JPT][hapmap]
rs7200879	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs72799330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs729482	0.88[JPT][hapmap]
rs732172	0.88[JPT][hapmap]
rs7500719	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8046001	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8046391	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8050107	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8056842	0.88[JPT][hapmap]
rs8058961	0.82[CHB][hapmap]
rs8059475	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs881929	0.88[JPT][hapmap]
rs897984	0.97[ASN][1000 genomes]
rs9796842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9932572	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9933843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9939417	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30845800-30884800	Weak transcription	Brain Germinal Matrix	brain
2	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:30856200-30885800	Weak transcription	NH-A	brain
4	chr16:30856600-30885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:30856800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:30856800-30885600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:30856800-30885600	Weak transcription	Esophagus	oesophagus
8	chr16:30856800-30885600	Weak transcription	Spleen	Spleen
9	chr16:30856800-30885800	Weak transcription	Brain Angular Gyrus	brain
10	chr16:30857000-30885400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:30857000-30885600	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:30858800-30885800	Weak transcription	NHDF-Ad	bronchial
13	chr16:30863600-30885600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:30865400-30884400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:30865400-30885800	Weak transcription	Fetal Kidney	kidney
16	chr16:30865600-30885400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:30865600-30885600	Weak transcription	Adipose Nuclei	Adipose
18	chr16:30866000-30885600	Weak transcription	Fetal Lung	lung
19	chr16:30866400-30885600	Weak transcription	Brain Anterior Caudate	brain
20	chr16:30866600-30884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:30866600-30885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:30868200-30885000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:30868400-30885600	Weak transcription	Fetal Heart	heart
24	chr16:30870600-30884600	Weak transcription	NHEK	skin
25	chr16:30870600-30885600	Weak transcription	Hela-S3	cervix
26	chr16:30870600-30885600	Weak transcription	Osteobl	bone
27	chr16:30871200-30884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:30875000-30885400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:30875200-30885400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:30875600-30885600	Weak transcription	Fetal Intestine Large	intestine
31	chr16:30877400-30885600	Weak transcription	Right Ventricle	heart
32	chr16:30878600-30885600	Weak transcription	A549	lung
33	chr16:30878800-30884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:30879600-30884200	Strong transcription	Fetal Stomach	stomach
35	chr16:30879600-30884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:30880000-30884800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:30880200-30885600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:30880400-30885400	Weak transcription	HUVEC	blood vessel
39	chr16:30880600-30885600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:30881000-30884200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr16:30881200-30885600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:30881400-30884200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:30881400-30884200	Strong transcription	Fetal Intestine Small	intestine
44	chr16:30881400-30885000	Strong transcription	Fetal Muscle Leg	muscle
45	chr16:30881600-30884200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:30881800-30885600	Weak transcription	HSMM	muscle
47	chr16:30882000-30885400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:30882000-30885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:30882000-30885800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:30882000-30885800	Weak transcription	Gastric	stomach

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