Variant report

Variant	rs60575688
Chromosome Location	chr16:70424316-70424317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70423133..70426937-chr16:70556089..70559667,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11863394	1.00[EUR][1000 genomes]
rs12102388	1.00[AMR][1000 genomes]
rs13330945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334712	0.87[AMR][1000 genomes]
rs13337689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339561	1.00[EUR][1000 genomes]
rs13339593	1.00[EUR][1000 genomes]
rs13339643	1.00[EUR][1000 genomes]
rs17878662	1.00[EUR][1000 genomes]
rs17879275	1.00[EUR][1000 genomes]
rs17881316	1.00[EUR][1000 genomes]
rs17886111	1.00[EUR][1000 genomes]
rs1979594	0.87[AMR][1000 genomes]
rs28613466	1.00[AMR][1000 genomes]
rs57301833	0.87[AMR][1000 genomes]
rs7188297	1.00[EUR][1000 genomes]
rs7188474	1.00[EUR][1000 genomes]
rs7188808	1.00[EUR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7196773	1.00[EUR][1000 genomes]
rs7199312	1.00[EUR][1000 genomes]
rs7200891	0.87[AMR][1000 genomes]
rs7202133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045340	0.87[AMR][1000 genomes]
rs8047189	1.00[EUR][1000 genomes]
rs8057766	1.00[AMR][1000 genomes]
rs8059200	1.00[EUR][1000 genomes]
rs8061243	1.00[EUR][1000 genomes]
rs8061431	1.00[EUR][1000 genomes]
rs8062414	1.00[EUR][1000 genomes]
rs8062794	1.00[EUR][1000 genomes]
rs891138	0.87[AMR][1000 genomes]
rs9921696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922969	1.00[EUR][1000 genomes]
rs9923656	1.00[EUR][1000 genomes]
rs9924352	0.87[AMR][1000 genomes]
rs9925510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	1.00[EUR][1000 genomes]
rs9929182	1.00[EUR][1000 genomes]
rs9933510	1.00[EUR][1000 genomes]
rs9940592	1.00[EUR][1000 genomes]
rs9940654	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70415800-70427600	Weak transcription	Fetal Kidney	kidney
2	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70416000-70424400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:70416000-70425000	Weak transcription	Right Atrium	heart
5	chr16:70416000-70425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:70416000-70425800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:70416000-70425800	Weak transcription	Osteobl	bone
8	chr16:70416000-70429200	Weak transcription	Colonic Mucosa	Colon
9	chr16:70416000-70429400	Weak transcription	Pancreas	Pancrea
10	chr16:70416000-70430000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:70416000-70432200	Weak transcription	Gastric	stomach
12	chr16:70416000-70433400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
15	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
17	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
18	chr16:70416200-70424400	Weak transcription	Brain Anterior Caudate	brain
19	chr16:70416200-70424400	Weak transcription	Esophagus	oesophagus
20	chr16:70416200-70424400	Weak transcription	HMEC	breast
21	chr16:70416200-70424400	Weak transcription	NHEK	skin
22	chr16:70416200-70425800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:70416200-70425800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:70416200-70427600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:70416200-70428600	Strong transcription	Fetal Intestine Small	intestine
26	chr16:70416200-70429200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:70416200-70429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:70416200-70432200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:70416200-70437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:70416200-70437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr16:70416400-70424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:70416400-70424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:70416400-70424400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:70416400-70426200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:70416400-70434600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:70416600-70424400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:70416600-70424400	Strong transcription	Fetal Intestine Large	intestine
38	chr16:70416600-70425400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:70416600-70427200	Weak transcription	Fetal Brain Male	brain
40	chr16:70416600-70428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:70416600-70431800	Weak transcription	Brain Angular Gyrus	brain
42	chr16:70416800-70424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:70417200-70425800	Weak transcription	HSMMtube	muscle
44	chr16:70417400-70427400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr16:70418000-70427400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:70418200-70427600	Weak transcription	Hela-S3	cervix
47	chr16:70419200-70425600	Strong transcription	Fetal Muscle Leg	muscle
48	chr16:70419600-70426000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:70420400-70424800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:70420400-70425400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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