Variant report

Variant	rs6565204
Chromosome Location	chr16:30820828-30820829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30795066..30800356-chr16:30815303..30822232,38	MCF-7	breast:
2	chr16:30817154..30820874-chr16:30824178..30827493,4	K562	blood:

Variant related genes	Relation type
ENSG00000102870	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10782000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11648654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12447824	0.83[AFR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12931844	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12933849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550477	1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[AMR][1000 genomes]
rs2099755	1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[AMR][1000 genomes]
rs2919432	1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	1.00[AMR][1000 genomes]
rs4889488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs71380412	0.82[AFR][1000 genomes]
rs7185136	1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047780	0.90[AFR][1000 genomes]
rs8048656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	1.00[AMR][1000 genomes]
rs9921630	1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941300	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	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
17	nsv103692	chr16:30820490-30824117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30817800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:30818000-30823000	Weak transcription	Fetal Brain Female	brain
3	chr16:30818000-30825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:30818000-30825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:30818000-30825000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:30818000-30825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:30818000-30825400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:30818200-30825000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30818200-30825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:30818200-30825000	Weak transcription	Adipose Nuclei	Adipose
11	chr16:30818200-30825000	Weak transcription	Brain Anterior Caudate	brain
12	chr16:30818200-30825000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:30818200-30825000	Weak transcription	A549	lung
14	chr16:30818200-30825000	Weak transcription	GM12878-XiMat	blood
15	chr16:30818200-30825000	Weak transcription	HMEC	breast
16	chr16:30818200-30825200	Weak transcription	Hela-S3	cervix
17	chr16:30818200-30825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:30818400-30825000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:30818600-30825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:30818800-30821600	Enhancers	HepG2	liver
21	chr16:30818800-30824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30818800-30824000	Weak transcription	Primary B cells from cord blood	blood
23	chr16:30818800-30824200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:30818800-30825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:30818800-30825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:30818800-30825000	Weak transcription	Liver	Liver
27	chr16:30818800-30825000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:30818800-30825200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:30818800-30825200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:30818800-30825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:30818800-30825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:30818800-30825200	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:30818800-30825200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:30818800-30825200	Weak transcription	Osteobl	bone
35	chr16:30818800-30825400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:30819000-30824400	Weak transcription	Fetal Intestine Large	intestine
37	chr16:30819000-30824600	Weak transcription	Placenta	Placenta
38	chr16:30819000-30825000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:30819000-30825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:30819000-30825200	Weak transcription	Brain Angular Gyrus	brain
41	chr16:30819000-30825200	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:30819000-30825200	Weak transcription	Fetal Heart	heart
43	chr16:30819000-30825200	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:30819000-30825200	Weak transcription	Fetal Stomach	stomach
45	chr16:30819000-30825200	Weak transcription	NHDF-Ad	bronchial
46	chr16:30819600-30821000	Enhancers	K562	blood
47	chr16:30820000-30821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:30820200-30824000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:30820200-30825000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:30820400-30823400	Weak transcription	Primary monocytes fromperipheralblood	blood

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