Variant report

Variant	rs58223373
Chromosome Location	chr16:30608137-30608138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30439099..30443342-chr16:30604071..30609536,7	MCF-7	breast:
2	chr16:30606433..30608614-chr16:30620869..30622522,2	MCF-7	breast:
3	chr16:30596933..30599374-chr16:30607342..30609536,2	MCF-7	breast:
4	chr16:30601786..30604639-chr16:30605834..30610453,5	K562	blood:
5	chr16:30454972..30458027-chr16:30607441..30611174,4	K562	blood:

Variant related genes	Relation type
ENSG00000156853	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223875	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59391245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7190535	1.00[AMR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015016	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][1000 genomes]
rs9921376	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30597800-30608800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:30597800-30609200	Weak transcription	Brain Angular Gyrus	brain
3	chr16:30597800-30609400	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:30597800-30609400	Weak transcription	Brain Substantia Nigra	brain
5	chr16:30597800-30609600	Weak transcription	Adipose Nuclei	Adipose
6	chr16:30597800-30613400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:30597800-30613400	Weak transcription	Brain Anterior Caudate	brain
8	chr16:30597800-30613400	Weak transcription	Spleen	Spleen
9	chr16:30597800-30613600	Weak transcription	Fetal Lung	lung
10	chr16:30597800-30613600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:30597800-30613800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:30597800-30613800	Weak transcription	HSMM	muscle
13	chr16:30597800-30614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:30597800-30614000	Weak transcription	Left Ventricle	heart
15	chr16:30597800-30614000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:30597800-30614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:30597800-30614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:30597800-30614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:30597800-30614200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:30597800-30614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:30597800-30614400	Weak transcription	Ovary	ovary
22	chr16:30597800-30614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:30597800-30615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:30597800-30615000	Weak transcription	Fetal Kidney	kidney
25	chr16:30597800-30615200	Weak transcription	Esophagus	oesophagus
26	chr16:30597800-30615600	Weak transcription	Right Atrium	heart
27	chr16:30597800-30615600	Weak transcription	Small Intestine	intestine
28	chr16:30598000-30613200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:30598000-30613400	Weak transcription	Primary T cells from cord blood	blood
30	chr16:30598000-30613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:30598000-30613600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:30598000-30614000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:30598000-30614000	Weak transcription	HMEC	breast
34	chr16:30598000-30614200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:30598000-30614200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:30598000-30615400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:30598200-30613400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:30598400-30609400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:30598400-30612000	Weak transcription	Fetal Brain Female	brain
40	chr16:30598400-30613400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr16:30598400-30613800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:30598400-30614200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr16:30598400-30620000	Weak transcription	Fetal Brain Male	brain
44	chr16:30598400-30620200	Weak transcription	HUVEC	blood vessel
45	chr16:30598600-30609400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr16:30598600-30609400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:30598600-30609400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:30598600-30613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:30598600-30614200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:30598600-30614400	Weak transcription	Lung	lung

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