Variant report

Variant	rs34620351
Chromosome Location	chr14:70802400-70802401
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	chr14:70233789..70235348-chr14:70800214..70803158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12879256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12879701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12880065	0.82[EUR][1000 genomes]
rs12885170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12888630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12889575	0.85[EUR][1000 genomes]
rs12889618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890852	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12891402	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12897297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12898006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17475333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17566989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34506335	0.82[EUR][1000 genomes]
rs34590849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658788	0.97[EUR][1000 genomes]
rs34981619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35034872	0.85[EUR][1000 genomes]
rs35224988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35543989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35547503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35697534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35997384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55812665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66495513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67417438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67434384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34620351	COX16	cis	Heart Left Ventricle	GTEx
rs34620351	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs34620351	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
3	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
4	chr14:70792800-70825200	Weak transcription	NH-A	brain
5	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:70798400-70804200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:70798600-70802400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70798600-70802400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr14:70798600-70803800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr14:70798800-70802400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:70798800-70802400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr14:70798800-70802600	ZNF genes & repeats	Dnd41	blood
14	chr14:70799000-70802600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:70799000-70802600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr14:70799200-70803000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:70799400-70802400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
18	chr14:70799800-70804800	Weak transcription	Fetal Stomach	stomach
19	chr14:70799800-70806000	Weak transcription	Gastric	stomach
20	chr14:70799800-70806200	Weak transcription	Aorta	Aorta
21	chr14:70799800-70810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:70799800-70811200	Weak transcription	Left Ventricle	heart
23	chr14:70799800-70811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:70799800-70811400	Weak transcription	Lung	lung
25	chr14:70799800-70811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:70799800-70812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:70800000-70809200	Weak transcription	Osteobl	bone
28	chr14:70800000-70811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:70800000-70825000	Weak transcription	HSMM	muscle
30	chr14:70800400-70802400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:70800600-70821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:70800800-70806200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:70800800-70806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:70800800-70815000	Weak transcription	Right Ventricle	heart
35	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:70801200-70804800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:70801200-70805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:70801200-70806200	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:70801200-70806200	Weak transcription	Psoas Muscle	Psoas
40	chr14:70801200-70809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:70801200-70810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:70801200-70810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:70801200-70811200	Weak transcription	Thymus	Thymus
44	chr14:70801200-70811400	Weak transcription	Esophagus	oesophagus
45	chr14:70801200-70811600	Weak transcription	Pancreas	Pancrea
46	chr14:70801200-70815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:70801200-70815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain

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