Variant report

Variant	rs7204793
Chromosome Location	chr16:70349092-70349093
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11537667	0.80[YRI][hapmap]
rs11860870	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs11862053	0.80[YRI][hapmap]
rs11865783	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.80[YRI][hapmap]
rs16970361	0.80[YRI][hapmap]
rs16970609	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs56217164	0.89[AMR][1000 genomes]
rs56234537	0.89[AMR][1000 genomes]
rs57279408	0.89[AMR][1000 genomes]
rs7195567	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs7204800	0.89[AMR][1000 genomes]
rs7205990	0.80[YRI][hapmap]

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	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
10	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:70334000-70349800	Weak transcription	Ovary	ovary
15	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
16	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
18	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
20	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
24	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
26	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
31	chr16:70335400-70349200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:70335400-70349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:70335400-70349400	Weak transcription	Brain Anterior Caudate	brain
34	chr16:70335400-70349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:70335400-70349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:70335400-70349800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:70335400-70349800	Weak transcription	HSMM	muscle
38	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:70335600-70349400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:70335600-70349400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:70335600-70349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:70335600-70349800	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:70335800-70349200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:70335800-70349400	Weak transcription	NHDF-Ad	bronchial
45	chr16:70335800-70349800	Weak transcription	Thymus	Thymus
46	chr16:70335800-70350400	Weak transcription	Fetal Lung	lung
47	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
48	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr16:70336200-70349800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:70337000-70349400	Weak transcription	HepG2	liver

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