Variant report

Variant	rs73593377
Chromosome Location	chr16:81035572-81035573
allele	C/T
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	ZNF384	chr16:81035125-81035599	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
2	chr16:81025909..81029223-chr16:81033494..81036388,3	K562	blood:

Variant related genes	Relation type
CMC2	TF binding region
CENPN	TF binding region
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12103363	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329841	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13337596	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16954355	1.00[EUR][1000 genomes]
rs16954388	1.00[EUR][1000 genomes]
rs16954396	1.00[EUR][1000 genomes]
rs16954476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28838573	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664147	1.00[EUR][1000 genomes]
rs56077763	1.00[EUR][1000 genomes]
rs56231346	1.00[EUR][1000 genomes]
rs56333013	1.00[EUR][1000 genomes]
rs56758545	1.00[EUR][1000 genomes]
rs56838270	1.00[EUR][1000 genomes]
rs57808460	1.00[EUR][1000 genomes]
rs57830624	1.00[EUR][1000 genomes]
rs58231940	1.00[EUR][1000 genomes]
rs59143415	1.00[EUR][1000 genomes]
rs59569926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60277524	1.00[EUR][1000 genomes]
rs60950004	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343635	1.00[EUR][1000 genomes]
rs6564815	1.00[EUR][1000 genomes]
rs6564816	1.00[EUR][1000 genomes]
rs7187063	1.00[EUR][1000 genomes]
rs74028885	1.00[EUR][1000 genomes]
rs74028889	1.00[EUR][1000 genomes]
rs74028891	1.00[EUR][1000 genomes]
rs74028894	1.00[EUR][1000 genomes]
rs74028898	1.00[EUR][1000 genomes]
rs9934213	0.81[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	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
3	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
5	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr16:81014600-81037600	Weak transcription	Lung	lung
7	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:81025200-81037600	Weak transcription	Gastric	stomach
15	chr16:81025200-81038000	Weak transcription	Pancreas	Pancrea
16	chr16:81025400-81037600	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:81025600-81036400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:81025600-81037600	Weak transcription	Fetal Thymus	thymus
19	chr16:81027200-81037200	Weak transcription	Brain Angular Gyrus	brain
20	chr16:81027200-81038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
22	chr16:81027400-81037000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:81027400-81037200	Weak transcription	Fetal Brain Male	brain
24	chr16:81027600-81038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:81027800-81038000	Weak transcription	Brain Anterior Caudate	brain
26	chr16:81028600-81037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:81028600-81037600	Weak transcription	HMEC	breast
28	chr16:81028600-81037600	Weak transcription	NH-A	brain
29	chr16:81028800-81037200	Weak transcription	NHEK	skin
30	chr16:81028800-81037600	Weak transcription	HSMM	muscle
31	chr16:81028800-81038000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:81028800-81038000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:81029000-81037000	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:81029600-81037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:81029600-81038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:81031000-81038200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:81031200-81036600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:81031200-81036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:81031200-81037600	Weak transcription	Psoas Muscle	Psoas
40	chr16:81031200-81038000	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:81031200-81038200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:81031400-81036200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:81031400-81036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:81031400-81036600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:81031400-81036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:81031400-81036600	Weak transcription	Fetal Heart	heart
47	chr16:81031400-81036600	Weak transcription	Fetal Lung	lung
48	chr16:81031400-81036600	Weak transcription	Right Atrium	heart
49	chr16:81031400-81036600	Weak transcription	NHDF-Ad	bronchial
50	chr16:81031400-81036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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