Variant report

Variant	rs74030209
Chromosome Location	chr16:73058926-73058927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
2	chr16:72958530..72960717-chr16:73056358..73059104,2	MCF-7	breast:
3	chr16:73052296..73055168-chr16:73058729..73060929,2	K562	blood:
4	chr16:73050220..73052813-chr16:73058452..73060426,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11075959	0.82[EUR][1000 genomes]
rs11860416	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28688024	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55989215	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6499604	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7203164	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73594757	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74030210	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73049400-73069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:73051200-73059200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:73052400-73060000	Enhancers	Right Atrium	heart
4	chr16:73052400-73064400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr16:73052800-73060000	Enhancers	Pancreas	Pancrea
6	chr16:73053600-73062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:73054000-73063800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr16:73054600-73059200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:73054600-73062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:73054600-73065200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:73054800-73059000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:73054800-73059200	Weak transcription	Small Intestine	intestine
13	chr16:73054800-73060000	Weak transcription	GM12878-XiMat	blood
14	chr16:73054800-73061400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:73055000-73059000	Weak transcription	Aorta	Aorta
16	chr16:73055000-73059000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:73055000-73059000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:73055000-73059200	Weak transcription	Stomach Mucosa	stomach
19	chr16:73055000-73061200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:73055200-73059000	Weak transcription	Osteobl	bone
21	chr16:73055200-73059200	Weak transcription	NH-A	brain
22	chr16:73055200-73061400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:73055200-73062200	Enhancers	A549	lung
24	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
25	chr16:73055400-73059000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:73055400-73059200	Weak transcription	HUVEC	blood vessel
27	chr16:73055400-73062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:73055400-73066600	Weak transcription	Hela-S3	cervix
29	chr16:73056800-73059000	Weak transcription	Liver	Liver
30	chr16:73057000-73060000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:73057200-73060000	Enhancers	Gastric	stomach
32	chr16:73057200-73060000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr16:73057200-73063400	Enhancers	Psoas Muscle	Psoas
34	chr16:73057600-73059400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:73057600-73059400	Weak transcription	Brain Anterior Caudate	brain
36	chr16:73057600-73060200	Enhancers	Fetal Lung	lung
37	chr16:73057600-73060400	Enhancers	Lung	lung
38	chr16:73057600-73060400	Enhancers	Right Ventricle	heart
39	chr16:73057800-73059400	Enhancers	NHLF	lung
40	chr16:73057800-73063400	Enhancers	Left Ventricle	heart
41	chr16:73058000-73059000	Enhancers	Colon Smooth Muscle	Colon
42	chr16:73058000-73059200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:73058000-73059400	Enhancers	Brain Germinal Matrix	brain
44	chr16:73058000-73059800	Enhancers	Placenta	Placenta
45	chr16:73058000-73060000	Enhancers	Fetal Kidney	kidney
46	chr16:73058200-73059400	Weak transcription	Fetal Intestine Large	intestine
47	chr16:73058200-73059600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr16:73058200-73059800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:73058200-73059800	Enhancers	Colonic Mucosa	Colon
50	chr16:73058200-73060000	Enhancers	Fetal Stomach	stomach

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