Variant report

Variant	rs7205416
Chromosome Location	chr16:70349462-70349463
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70322044..70326489-chr16:70345691..70350355,6	K562	blood:
2	chr16:70344450..70346298-chr16:70347221..70349593,2	K562	blood:

Variant related genes	Relation type
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17882065	1.00[AMR][1000 genomes]
rs28420658	1.00[AMR][1000 genomes]
rs28523566	1.00[AMR][1000 genomes]
rs7184733	0.82[AFR][1000 genomes]
rs7187629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190859	0.85[AFR][1000 genomes]
rs7192564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195180	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7196338	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202183	1.00[AMR][1000 genomes]
rs7203007	0.85[AFR][1000 genomes]
rs8043683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046296	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8051076	0.83[AFR][1000 genomes]
rs8058557	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059844	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8060051	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934907	1.00[AMR][1000 genomes]
rs9936419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:70333800-70350200	Weak transcription	Gastric	stomach
3	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
4	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
5	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:70334000-70349800	Weak transcription	Ovary	ovary
10	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
11	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
13	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
15	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
19	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
20	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
23	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
24	chr16:70335400-70349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:70335400-70349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:70335400-70349800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:70335400-70349800	Weak transcription	HSMM	muscle
28	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:70335600-70349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:70335600-70349800	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:70335800-70349800	Weak transcription	Thymus	Thymus
32	chr16:70335800-70350400	Weak transcription	Fetal Lung	lung
33	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
34	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:70336200-70349800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:70337400-70349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:70337400-70349800	Weak transcription	Brain Germinal Matrix	brain
38	chr16:70337400-70349800	Weak transcription	Pancreas	Pancrea
39	chr16:70339000-70366400	Weak transcription	K562	blood
40	chr16:70339200-70349800	Weak transcription	Osteobl	bone
41	chr16:70339200-70350000	Weak transcription	Spleen	Spleen
42	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:70339400-70349600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:70339400-70349600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:70339400-70349800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:70339400-70350000	Weak transcription	Hela-S3	cervix
47	chr16:70339400-70350200	Weak transcription	Primary B cells from cord blood	blood
48	chr16:70339400-70350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:70339400-70351400	Weak transcription	NH-A	brain
50	chr16:70339400-70359000	Weak transcription	HUVEC	blood vessel

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