Variant report

Variant	rs13334712
Chromosome Location	chr16:70523634-70523635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70522527..70524486-chr16:70532173..70534316,2	K562	blood:
2	chr16:70510715..70512224-chr16:70521529..70524306,2	MCF-7	breast:
3	chr16:70514898..70517346-chr16:70522170..70524060,2	K562	blood:
4	chr16:70487117..70490003-chr16:70522933..70524555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12102388	0.87[AMR][1000 genomes]
rs12325225	1.00[AMR][1000 genomes]
rs13330945	0.87[AMR][1000 genomes]
rs13337689	0.87[AMR][1000 genomes]
rs1979594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613466	0.87[AMR][1000 genomes]
rs56990872	0.87[AMR][1000 genomes]
rs57301833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60575688	0.87[AMR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193598	1.00[EUR][1000 genomes]
rs7200034	1.00[EUR][1000 genomes]
rs7200891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202133	0.87[AMR][1000 genomes]
rs8045340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057766	0.87[AMR][1000 genomes]
rs891138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921696	0.87[AMR][1000 genomes]
rs9924352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	0.87[AMR][1000 genomes]
rs9927480	1.00[EUR][1000 genomes]
rs9934707	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	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:70504400-70535200	Strong transcription	Liver	Liver
8	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
12	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
13	chr16:70511600-70524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:70511800-70524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:70512000-70524600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:70512800-70524200	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr16:70513000-70528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:70513000-70528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:70513600-70527600	Weak transcription	Right Atrium	heart
24	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr16:70514000-70524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:70514400-70524800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:70514400-70527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr16:70514800-70524200	Weak transcription	Fetal Heart	heart
29	chr16:70515800-70524000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:70516000-70530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:70516200-70527200	Weak transcription	Small Intestine	intestine
32	chr16:70516800-70527000	Weak transcription	A549	lung
33	chr16:70516800-70527400	Weak transcription	HMEC	breast
34	chr16:70516800-70529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:70516800-70529400	Weak transcription	HUVEC	blood vessel
36	chr16:70517400-70525000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:70517600-70527600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:70517800-70524000	Weak transcription	HSMM	muscle
40	chr16:70518000-70523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:70518000-70524000	Weak transcription	Aorta	Aorta
42	chr16:70518000-70524000	Weak transcription	Pancreas	Pancrea
43	chr16:70518000-70527000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:70518000-70527200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:70518200-70523800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:70518200-70524000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:70518200-70527400	Weak transcription	Right Ventricle	heart
49	chr16:70518400-70524000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr16:70518400-70524000	Weak transcription	K562	blood

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