Variant report

Variant	rs6420420
Chromosome Location	chr16:81128039-81128040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
2	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
3	chr16:81123255..81125056-chr16:81127455..81129707,2	MCF-7	breast:
4	chr16:81109367..81115509-chr16:81122988..81128884,9	K562	blood:
5	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166455	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11150339	0.94[AFR][1000 genomes]
rs1563076	1.00[AMR][1000 genomes]
rs2316728	0.88[AFR][1000 genomes]
rs2549890	1.00[AMR][1000 genomes]
rs2549894	1.00[AMR][1000 genomes]
rs2602432	1.00[AMR][1000 genomes]
rs2602451	1.00[AMR][1000 genomes]
rs2602454	1.00[AMR][1000 genomes]
rs2911157	1.00[AMR][1000 genomes]
rs4889226	0.80[AFR][1000 genomes]
rs4889228	0.81[AFR][1000 genomes]
rs4889232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5023851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564818	0.80[AFR][1000 genomes]
rs7187102	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs754427	0.81[AFR][1000 genomes]
rs804888	1.00[AMR][1000 genomes]
rs804892	0.81[AFR][1000 genomes]
rs804898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804900	0.81[AFR][1000 genomes]
rs804901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177853	0.91[AFR][1000 genomes]
rs8177931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935945	1.00[AMR][1000 genomes]
rs9923328	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
3	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
5	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
6	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81111400-81129000	Weak transcription	Gastric	stomach
8	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:81111600-81128200	Weak transcription	NH-A	brain
12	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
16	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:81111600-81128400	Weak transcription	HSMM	muscle
18	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
20	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
21	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
29	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:81111600-81128800	Weak transcription	Right Atrium	heart
31	chr16:81111600-81128800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:81111600-81128800	Weak transcription	HSMMtube	muscle
33	chr16:81111600-81128800	Weak transcription	Osteobl	bone
34	chr16:81111600-81129000	Weak transcription	Brain Germinal Matrix	brain
35	chr16:81111600-81129000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:81111600-81129200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:81111600-81129200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81111600-81129200	Weak transcription	Left Ventricle	heart
39	chr16:81111800-81128200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:81111800-81128200	Weak transcription	Primary B cells from cord blood	blood
41	chr16:81111800-81128800	Weak transcription	Fetal Brain Male	brain
42	chr16:81111800-81128800	Weak transcription	Fetal Thymus	thymus
43	chr16:81114000-81128400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:81117600-81128200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:81120800-81128600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:81122000-81129400	Weak transcription	Small Intestine	intestine
47	chr16:81123000-81128400	Weak transcription	Fetal Heart	heart
48	chr16:81123200-81128800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:81123200-81129200	Weak transcription	Lung	lung
50	chr16:81123400-81128400	Weak transcription	Adipose Nuclei	Adipose

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