Variant report

Variant	rs11627020
Chromosome Location	chr14:70824143-70824144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:70824120-70824270	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
RNU2-51P	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044538	1.00[YRI][hapmap]
rs11622440	1.00[CEU][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623369	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]
rs11624706	0.82[AFR][1000 genomes]
rs11849053	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs45565842	0.82[AFR][1000 genomes]
rs61977533	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977535	0.89[AFR][1000 genomes]
rs61977538	0.93[AFR][1000 genomes]
rs61977539	0.89[AFR][1000 genomes]
rs61977540	0.83[AFR][1000 genomes]
rs61977549	0.82[AFR][1000 genomes]
rs61977550	0.82[AFR][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
rs11627020	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs11627020	COX16	cis	Heart Left Ventricle	GTEx
rs11627020	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

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	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
7	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
13	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
14	chr14:70807800-70825200	Weak transcription	A549	lung
15	chr14:70811400-70824400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:70811600-70825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:70812000-70824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:70813200-70825200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:70813200-70825400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:70813400-70824800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:70813400-70825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:70813600-70825400	Weak transcription	Placenta	Placenta
23	chr14:70814800-70825200	Weak transcription	Stomach Mucosa	stomach
24	chr14:70815000-70825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:70815600-70825000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:70816000-70824800	Weak transcription	Primary B cells from cord blood	blood
27	chr14:70816200-70825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:70816400-70824200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70816600-70824400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:70816800-70824800	Weak transcription	Brain Germinal Matrix	brain
31	chr14:70817000-70824400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:70817000-70825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:70817200-70824400	Weak transcription	Fetal Intestine Small	intestine
34	chr14:70817200-70824800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:70817200-70825000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:70817200-70825000	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:70817200-70825200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:70817200-70825200	Weak transcription	Fetal Stomach	stomach
39	chr14:70817400-70824400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:70817400-70824800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:70817400-70824800	Weak transcription	Primary T cells from cord blood	blood
42	chr14:70817400-70825000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:70818000-70825200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:70819000-70825200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:70819800-70825200	Weak transcription	Fetal Lung	lung
46	chr14:70821000-70824800	Enhancers	Liver	Liver
47	chr14:70821000-70825200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:70821200-70824400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:70821200-70825000	Weak transcription	Adipose Nuclei	Adipose
50	chr14:70821200-70825200	Weak transcription	HSMMtube	muscle

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