Variant report

Variant	rs72798683
Chromosome Location	chr16:75011172-75011173
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75009669..75012788-chr16:75031398..75034999,4	MCF-7	breast:
2	chr16:75004498..75006024-chr16:75011076..75012971,2	MCF-7	breast:
3	chr16:74955268..74957742-chr16:75008692..75011685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186187	Chromatin interaction
ENSG00000103091	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514386	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798700	1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][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	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	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
7	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74976200-75012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:74977600-75016400	Weak transcription	Fetal Heart	heart
3	chr16:74982600-75018200	Weak transcription	HUVEC	blood vessel
4	chr16:74985400-75016600	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:74985400-75018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:74985400-75018200	Weak transcription	Colonic Mucosa	Colon
7	chr16:74985600-75017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:74985800-75018200	Weak transcription	NHLF	lung
9	chr16:74986000-75016800	Weak transcription	Hela-S3	cervix
10	chr16:74986200-75017400	Weak transcription	Pancreas	Pancrea
11	chr16:74986200-75017400	Weak transcription	Right Ventricle	heart
12	chr16:74989200-75016200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:74989400-75016200	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:74989400-75016400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:74989600-75016200	Weak transcription	Brain Anterior Caudate	brain
16	chr16:74989600-75016600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:74989800-75018200	Weak transcription	Psoas Muscle	Psoas
18	chr16:74990200-75017400	Weak transcription	Fetal Brain Male	brain
19	chr16:74990400-75016200	Weak transcription	K562	blood
20	chr16:74990400-75018400	Weak transcription	Aorta	Aorta
21	chr16:74990600-75018200	Weak transcription	NH-A	brain
22	chr16:74990600-75018400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:74990800-75016200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:74990800-75018200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:74990800-75018200	Weak transcription	HMEC	breast
26	chr16:74990800-75018200	Weak transcription	NHDF-Ad	bronchial
27	chr16:74990800-75018200	Weak transcription	Osteobl	bone
28	chr16:74991000-75016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:74991000-75016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:74991200-75012400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:74992000-75016200	Weak transcription	HSMM	muscle
32	chr16:74992200-75011600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:74992200-75012400	Weak transcription	NHEK	skin
34	chr16:74992200-75018200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:74992800-75017600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:74993400-75011800	Weak transcription	Ovary	ovary
37	chr16:74993400-75016600	Weak transcription	Esophagus	oesophagus
38	chr16:74993400-75017600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:74993400-75017600	Weak transcription	Spleen	Spleen
40	chr16:74993400-75018200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:74993400-75018200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr16:74993400-75018200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:74993400-75018200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:74993400-75018200	Weak transcription	A549	lung
45	chr16:74993600-75018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:74994200-75018200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr16:74994400-75018200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:74994600-75017400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:74995200-75018200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:74996200-75016400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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