Variant report

Variant	rs11623369
Chromosome Location	chr14:70821164-70821165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70805368..70808326-chr14:70817743..70821217,3	MCF-7	breast:
2	chr14:70820146..70822158-chr14:70824874..70826641,2	MCF-7	breast:
3	chr14:70820880..70823895-chr14:70824846..70827747,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133983	Chromatin interaction
ENSG00000222640	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1044538	0.80[YRI][hapmap]
rs11622440	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626735	0.82[MEX][hapmap]
rs11627020	1.00[CEU][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846101	0.82[MEX][hapmap]
rs11849053	0.80[YRI][hapmap]
rs34658788	0.82[AFR][1000 genomes]
rs61977533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11623369	COX16	cis	Muscle Skeletal	GTEx
rs11623369	COX16	cis	parietal	SCAN
rs11623369	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs11623369	VTI1B	cis	cerebellum	SCAN
rs11623369	COX16	cis	Heart Left Ventricle	GTEx
rs11623369	ADAM20	cis	cerebellum	SCAN
rs11623369	COX16	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70792800-70825200	Weak transcription	NH-A	brain
2	chr14:70800000-70825000	Weak transcription	HSMM	muscle
3	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
8	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:70802200-70822200	Weak transcription	NHEK	skin
11	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
13	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:70806400-70823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
16	chr14:70806800-70821200	Weak transcription	Aorta	Aorta
17	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
18	chr14:70807200-70822400	Weak transcription	Psoas Muscle	Psoas
19	chr14:70807400-70821400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:70807600-70821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:70807800-70825200	Weak transcription	A549	lung
22	chr14:70808600-70821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:70808600-70821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:70809000-70821200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:70809800-70821200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:70810800-70821400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:70811400-70824400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:70811600-70825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:70812000-70822600	Weak transcription	Esophagus	oesophagus
30	chr14:70812000-70824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:70813000-70823600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:70813000-70823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:70813200-70822600	Weak transcription	Spleen	Spleen
34	chr14:70813200-70825200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:70813200-70825400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:70813400-70823600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:70813400-70824800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:70813400-70825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:70813600-70825400	Weak transcription	Placenta	Placenta
40	chr14:70813800-70823200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:70814000-70821200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:70814000-70822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:70814600-70824000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:70814800-70825200	Weak transcription	Stomach Mucosa	stomach
45	chr14:70815000-70821400	Weak transcription	HepG2	liver
46	chr14:70815000-70822600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:70815000-70825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:70815200-70822400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:70815200-70824000	Weak transcription	Fetal Brain Female	brain
50	chr14:70815400-70822400	Weak transcription	Right Ventricle	heart

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