Variant report

Variant	rs73590712
Chromosome Location	chr16:72872288-72872289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72869413..72872361-chr16:73080412..73083159,3	MCF-7	breast:
2	chr16:72867608..72872657-chr16:72880738..72885405,9	MCF-7	breast:
3	chr16:72869681..72872432-chr16:72909425..72912073,2	MCF-7	breast:
4	chr16:72865527..72874482-chr16:73088867..73095662,17	MCF-7	breast:
5	chr16:72869714..72872603-chr16:72872724..72875071,2	K562	blood:
6	chr16:72868820..72873631-chr16:72873911..72878574,9	MCF-7	breast:
7	chr16:72869714..72872603-chr16:72872777..72875071,2	K562	blood:

Variant related genes	Relation type
ENSG00000271009	Chromatin interaction
ENSG00000272250	Chromatin interaction
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11861408	1.00[EUR][1000 genomes]
rs11861672	1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[EUR][1000 genomes]
rs11866292	1.00[EUR][1000 genomes]
rs13329845	1.00[EUR][1000 genomes]
rs13331987	1.00[EUR][1000 genomes]
rs13336634	1.00[EUR][1000 genomes]
rs16971145	1.00[EUR][1000 genomes]
rs16971240	1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs28464989	1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28693857	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28828717	1.00[EUR][1000 genomes]
rs28847294	1.00[EUR][1000 genomes]
rs4255793	1.00[EUR][1000 genomes]
rs56804755	1.00[EUR][1000 genomes]
rs56991537	1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61192283	1.00[EUR][1000 genomes]
rs61235372	1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	1.00[EUR][1000 genomes]
rs7184224	1.00[EUR][1000 genomes]
rs7185566	1.00[EUR][1000 genomes]
rs7187768	1.00[EUR][1000 genomes]
rs7193704	1.00[EUR][1000 genomes]
rs7195234	1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	1.00[EUR][1000 genomes]
rs7199594	1.00[EUR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs73583174	1.00[EUR][1000 genomes]
rs73583188	1.00[EUR][1000 genomes]
rs73583198	1.00[EUR][1000 genomes]
rs73584928	1.00[EUR][1000 genomes]
rs73584931	1.00[EUR][1000 genomes]
rs73584955	1.00[EUR][1000 genomes]
rs73590703	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs8043976	1.00[EUR][1000 genomes]
rs8045813	1.00[EUR][1000 genomes]
rs8051123	1.00[EUR][1000 genomes]
rs8051371	1.00[EUR][1000 genomes]
rs8061838	1.00[EUR][1000 genomes]
rs9926706	1.00[EUR][1000 genomes]
rs9929006	1.00[EUR][1000 genomes]
rs9933331	1.00[EUR][1000 genomes]
rs9933418	1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9938038	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
2	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
5	chr16:72855800-72874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:72859200-72874200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:72859200-72874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:72859200-72874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:72859600-72874200	Weak transcription	Lung	lung
10	chr16:72861200-72874600	Weak transcription	Adipose Nuclei	Adipose
11	chr16:72861800-72874800	Weak transcription	Right Atrium	heart
12	chr16:72862600-72874800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:72862600-72882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:72863800-72874200	Weak transcription	Left Ventricle	heart
15	chr16:72863800-72874400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:72863800-72878600	Weak transcription	Fetal Intestine Large	intestine
17	chr16:72864000-72874200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr16:72864000-72874200	Weak transcription	Osteobl	bone
19	chr16:72864000-72874400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:72864200-72874800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:72864400-72875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:72865000-72874800	Weak transcription	Psoas Muscle	Psoas
23	chr16:72866600-72873400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:72866600-72878000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:72867000-72874000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:72867000-72874200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:72867000-72874400	Weak transcription	Fetal Kidney	kidney
28	chr16:72867200-72874400	Weak transcription	Brain Anterior Caudate	brain
29	chr16:72867200-72874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:72867400-72874200	Weak transcription	Ovary	ovary
31	chr16:72867400-72874400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:72867600-72872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:72867600-72892400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:72867800-72872400	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:72867800-72874000	Weak transcription	HSMM	muscle
36	chr16:72867800-72874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:72867800-72874800	Weak transcription	Placenta	Placenta
38	chr16:72867800-72875000	Weak transcription	Aorta	Aorta
39	chr16:72868400-72874800	Weak transcription	A549	lung
40	chr16:72868600-72881400	Weak transcription	Hela-S3	cervix
41	chr16:72868800-72874200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:72868800-72874400	Weak transcription	GM12878-XiMat	blood
43	chr16:72869000-72874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:72869200-72872400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:72869200-72872400	Weak transcription	Fetal Brain Male	brain
46	chr16:72870600-72873000	Weak transcription	Brain Germinal Matrix	brain
47	chr16:72870800-72872600	Strong transcription	Fetal Intestine Small	intestine
48	chr16:72871000-72874400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:72871000-72881800	Weak transcription	Liver	Liver
50	chr16:72871200-72874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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