Variant report

Variant	rs13330945
Chromosome Location	chr16:70524992-70524993
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	chr16:70524263..70526090-chr16:70529564..70531786,2	K562	blood:
2	chr16:70412713..70416394-chr16:70524042..70528993,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11863394	1.00[EUR][1000 genomes]
rs12102388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325225	0.87[AMR][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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57301833	0.87[AMR][1000 genomes]
rs60575688	1.00[AMR][1000 genomes];1.00[EUR][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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045340	0.87[AMR][1000 genomes]
rs8057766	0.82[AFR][1000 genomes];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]
rs9924352	0.87[AMR][1000 genomes]
rs9925510	0.81[AFR][1000 genomes];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]

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	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
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
5	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70504400-70535200	Strong transcription	Liver	Liver
7	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
10	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
11	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:70513000-70528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:70513000-70528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:70513600-70527600	Weak transcription	Right Atrium	heart
18	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr16:70514400-70527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:70516000-70530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:70516200-70527200	Weak transcription	Small Intestine	intestine
22	chr16:70516800-70527000	Weak transcription	A549	lung
23	chr16:70516800-70527400	Weak transcription	HMEC	breast
24	chr16:70516800-70529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:70516800-70529400	Weak transcription	HUVEC	blood vessel
26	chr16:70517400-70525000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:70517600-70527600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70518000-70527000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:70518000-70527200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70518200-70527400	Weak transcription	Right Ventricle	heart
33	chr16:70518400-70527000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:70518400-70527400	Weak transcription	NHEK	skin
35	chr16:70518800-70525800	Weak transcription	Osteobl	bone
36	chr16:70518800-70527000	Weak transcription	Brain Angular Gyrus	brain
37	chr16:70519000-70527400	Weak transcription	NH-A	brain
38	chr16:70519000-70529400	Weak transcription	Fetal Kidney	kidney
39	chr16:70519600-70526800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:70519800-70525200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:70519800-70525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:70519800-70532200	Strong transcription	Primary T cells from cord blood	blood
43	chr16:70519800-70533400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr16:70520200-70526400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr16:70520600-70527400	Weak transcription	Colon Smooth Muscle	Colon
46	chr16:70521800-70526000	Strong transcription	Fetal Brain Female	brain
47	chr16:70522200-70532000	Strong transcription	Fetal Lung	lung
48	chr16:70522800-70525000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr16:70522800-70531800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:70522800-70532200	Strong transcription	Stomach Smooth Muscle	stomach

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