Variant report

Variant	rs73594757
Chromosome Location	chr16:73051093-73051094
allele	C/G
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	POLR2A	chr16:73051070-73051149	K562	blood:	n/a	n/a
2	POLR2A	chr16:73051060-73051141	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:73050031..73052152-chr16:73076520..73078945,2	MCF-7	breast:
2	chr16:73050220..73052813-chr16:73058452..73060426,2	MCF-7	breast:
3	chr16:73049713..73052075-chr16:73126664..73128692,2	MCF-7	breast:
4	chr16:73048377..73052863-chr16:73053930..73057468,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272330	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11860416	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688024	0.90[EUR][1000 genomes]
rs55989215	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58876449	0.82[ASN][1000 genomes]
rs6499604	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499605	0.81[ASN][1000 genomes]
rs7203164	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74030209	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74030210	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73035600-73053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:73044600-73052600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:73044600-73052800	Weak transcription	Spleen	Spleen
4	chr16:73044600-73053000	Weak transcription	Fetal Stomach	stomach
5	chr16:73044600-73053200	Weak transcription	Brain Angular Gyrus	brain
6	chr16:73044800-73052200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:73044800-73052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:73044800-73053000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:73047200-73052800	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:73047800-73051800	Enhancers	Pancreas	Pancrea
11	chr16:73048000-73052600	Weak transcription	Osteobl	bone
12	chr16:73048800-73051600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr16:73049000-73051200	Enhancers	Adipose Nuclei	Adipose
14	chr16:73049000-73051800	Enhancers	Liver	Liver
15	chr16:73049000-73051800	Enhancers	Lung	lung
16	chr16:73049000-73051800	Enhancers	Stomach Mucosa	stomach
17	chr16:73049000-73052000	Enhancers	Fetal Intestine Large	intestine
18	chr16:73049000-73052000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr16:73049400-73051200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:73049400-73051200	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:73049400-73051800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:73049400-73051800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:73049400-73051800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:73049400-73052000	Enhancers	Fetal Lung	lung
25	chr16:73049400-73069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr16:73049600-73051400	Enhancers	Small Intestine	intestine
27	chr16:73049600-73051600	Enhancers	Gastric	stomach
28	chr16:73049600-73051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:73049600-73051800	Enhancers	Brain Hippocampus Middle	brain
30	chr16:73049600-73051800	Enhancers	Esophagus	oesophagus
31	chr16:73049600-73051800	Enhancers	Left Ventricle	heart
32	chr16:73049600-73051800	Enhancers	Right Ventricle	heart
33	chr16:73049600-73052000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr16:73049600-73056800	Enhancers	Psoas Muscle	Psoas
35	chr16:73049800-73051200	Enhancers	Brain Anterior Caudate	brain
36	chr16:73049800-73051800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr16:73049800-73053000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:73050000-73051800	Enhancers	Fetal Intestine Small	intestine
39	chr16:73050000-73052000	Enhancers	Colon Smooth Muscle	Colon
40	chr16:73050000-73052600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:73050200-73051800	Enhancers	Hela-S3	cervix
42	chr16:73050200-73051800	Enhancers	HUVEC	blood vessel
43	chr16:73050200-73053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:73050400-73053400	Weak transcription	HMEC	breast
45	chr16:73050600-73051200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:73050600-73051200	Enhancers	Aorta	Aorta
47	chr16:73050600-73051200	Enhancers	Colonic Mucosa	Colon
48	chr16:73050600-73051200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr16:73050600-73052000	Enhancers	Brain Substantia Nigra	brain
50	chr16:73050600-73052600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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