Variant report

Variant	rs72802316
Chromosome Location	chr16:75198114-75198115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75182498..75184135-chr16:75197182..75199685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11538267	1.00[ASN][1000 genomes]
rs11640206	1.00[ASN][1000 genomes]
rs11641289	1.00[ASN][1000 genomes]
rs11642025	1.00[ASN][1000 genomes]
rs12933939	1.00[ASN][1000 genomes]
rs2081214	1.00[ASN][1000 genomes]
rs34871232	1.00[ASN][1000 genomes]
rs4888359	1.00[ASN][1000 genomes]
rs56041903	1.00[ASN][1000 genomes]
rs7184887	1.00[ASN][1000 genomes]
rs7195528	1.00[ASN][1000 genomes]
rs72800346	1.00[AFR][1000 genomes]
rs72802307	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047117	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
6	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75183200-75201400	Weak transcription	Gastric	stomach
2	chr16:75183200-75202800	Weak transcription	Pancreas	Pancrea
3	chr16:75183400-75199400	Weak transcription	Stomach Mucosa	stomach
4	chr16:75183400-75200600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:75183400-75200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:75183400-75200600	Weak transcription	Colonic Mucosa	Colon
7	chr16:75183400-75200600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:75183400-75200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:75183400-75200800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:75183400-75202200	Weak transcription	Right Ventricle	heart
11	chr16:75183600-75200800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:75183600-75206800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75183800-75200000	Weak transcription	NHLF	lung
14	chr16:75184000-75200600	Weak transcription	Small Intestine	intestine
15	chr16:75184000-75201000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:75184600-75208200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:75185000-75200600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:75186400-75199600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:75186600-75199000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:75186600-75199000	Weak transcription	NHDF-Ad	bronchial
21	chr16:75186600-75199600	Weak transcription	NH-A	brain
22	chr16:75186600-75200600	Weak transcription	Brain Angular Gyrus	brain
23	chr16:75186800-75198600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:75186800-75200000	Weak transcription	Brain Anterior Caudate	brain
25	chr16:75187000-75199200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:75187000-75200600	Weak transcription	Adipose Nuclei	Adipose
27	chr16:75187000-75200600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:75187400-75200600	Weak transcription	Fetal Heart	heart
29	chr16:75187400-75200600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:75187800-75200600	Weak transcription	Psoas Muscle	Psoas
31	chr16:75187800-75200800	Weak transcription	Brain Substantia Nigra	brain
32	chr16:75188400-75200800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr16:75188600-75200600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:75189400-75198200	Weak transcription	Left Ventricle	heart
35	chr16:75189400-75200000	Weak transcription	Fetal Brain Male	brain
36	chr16:75189400-75200600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:75189400-75200600	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:75189400-75200600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:75189400-75200600	Weak transcription	Spleen	Spleen
40	chr16:75189400-75200600	Weak transcription	HUVEC	blood vessel
41	chr16:75189400-75207800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:75189600-75198800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:75189600-75200600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:75189800-75200600	Weak transcription	Placenta	Placenta
45	chr16:75190200-75200600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:75190200-75201600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:75190600-75199600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:75190800-75200600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:75191000-75198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:75191000-75200600	Weak transcription	HSMMtube	muscle

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