Variant report

Variant	rs74030210
Chromosome Location	chr16:73059747-73059748
allele	A/G
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	chr16:73052296..73055168-chr16:73058729..73060929,2	K562	blood:
3	chr16:73059653..73061872-chr16:74329579..74331696,2	MCF-7	breast:
4	chr16:73050220..73052813-chr16:73058452..73060426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261404	Chromatin interaction
ENSG00000103035	Chromatin interaction

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];0.88[ASN][1000 genomes]
rs28688024	1.00[EUR][1000 genomes]
rs55989215	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499604	1.00[EUR][1000 genomes]
rs7203164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594757	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74030209	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:81 , 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	chr16:73052400-73060000	Enhancers	Right Atrium	heart
3	chr16:73052400-73064400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr16:73052800-73060000	Enhancers	Pancreas	Pancrea
5	chr16:73053600-73062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:73054000-73063800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:73054600-73062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:73054600-73065200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:73054800-73060000	Weak transcription	GM12878-XiMat	blood
10	chr16:73054800-73061400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:73055000-73061200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:73055200-73061400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:73055200-73062200	Enhancers	A549	lung
14	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:73055400-73062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:73055400-73066600	Weak transcription	Hela-S3	cervix
17	chr16:73057000-73060000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:73057200-73060000	Enhancers	Gastric	stomach
19	chr16:73057200-73060000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:73057200-73063400	Enhancers	Psoas Muscle	Psoas
21	chr16:73057600-73060200	Enhancers	Fetal Lung	lung
22	chr16:73057600-73060400	Enhancers	Lung	lung
23	chr16:73057600-73060400	Enhancers	Right Ventricle	heart
24	chr16:73057800-73063400	Enhancers	Left Ventricle	heart
25	chr16:73058000-73059800	Enhancers	Placenta	Placenta
26	chr16:73058000-73060000	Enhancers	Fetal Kidney	kidney
27	chr16:73058200-73059800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:73058200-73059800	Enhancers	Colonic Mucosa	Colon
29	chr16:73058200-73060000	Enhancers	Fetal Stomach	stomach
30	chr16:73058200-73060000	Enhancers	Spleen	Spleen
31	chr16:73058200-73060200	Enhancers	Fetal Muscle Leg	muscle
32	chr16:73058200-73060200	Enhancers	HepG2	liver
33	chr16:73058200-73060200	Enhancers	NHDF-Ad	bronchial
34	chr16:73058200-73060400	Enhancers	Adipose Nuclei	Adipose
35	chr16:73058200-73060600	Enhancers	Fetal Muscle Trunk	muscle
36	chr16:73058200-73062200	Weak transcription	Fetal Thymus	thymus
37	chr16:73058400-73060200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:73058400-73060200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:73058600-73060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:73058600-73060000	Enhancers	Ovary	ovary
41	chr16:73058800-73059800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr16:73058800-73060000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:73058800-73060000	Enhancers	Brain Substantia Nigra	brain
44	chr16:73058800-73060000	Enhancers	Esophagus	oesophagus
45	chr16:73058800-73061600	Enhancers	HSMM	muscle
46	chr16:73059000-73059800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr16:73059000-73059800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr16:73059000-73060000	Enhancers	Aorta	Aorta
49	chr16:73059000-73060000	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:73059000-73060000	Enhancers	Rectal Smooth Muscle	rectum

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