Variant report

Variant	rs11850714
Chromosome Location	chr14:81662993-81662994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81656301..81665753-chr14:81684174..81688927,14	MCF-7	breast:
2	chr14:81655881..81668737-chr14:81683092..81689639,25	K562	blood:
3	chr14:81634706..81637472-chr14:81662917..81664868,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000258999	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11159493	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622105	0.81[AFR][1000 genomes]
rs12590764	0.86[EUR][1000 genomes]
rs1864167	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885601	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957546	0.80[ASN][1000 genomes]
rs1957549	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1991516	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099108	0.80[ASN][1000 genomes]
rs2288497	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288499	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371570	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3815953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4363794	0.90[EUR][1000 genomes]
rs55643303	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55822231	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56835982	0.88[AFR][1000 genomes]
rs61980899	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61980900	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141288	0.90[AFR][1000 genomes]
rs759939	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004096	0.86[EUR][1000 genomes]
rs8007841	0.82[ASN][1000 genomes]
rs8008870	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8009519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011097	0.86[EUR][1000 genomes]
rs8015423	0.82[AFR][1000 genomes]
rs8021125	0.86[EUR][1000 genomes]
rs8021385	0.86[EUR][1000 genomes]
rs9646167	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806027	0.89[EUR][1000 genomes];0.82[ASN][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
3	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:81644600-81666400	Weak transcription	Stomach Mucosa	stomach
6	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
7	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81646000-81664800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:81646200-81674800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:81647200-81664600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:81647200-81674400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:81647400-81674600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:81648000-81671400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:81648800-81667800	Weak transcription	Fetal Heart	heart
15	chr14:81649200-81677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:81650400-81665000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81650600-81676600	Strong transcription	Placenta	Placenta
18	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:81656000-81673200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:81656200-81663600	Strong transcription	HepG2	liver
23	chr14:81656400-81664400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:81656800-81663800	Strong transcription	Adipose Nuclei	Adipose
28	chr14:81656800-81664000	Strong transcription	Liver	Liver
29	chr14:81656800-81664200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:81657000-81664200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr14:81657000-81664200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:81657000-81664400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:81657000-81664600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:81657000-81670400	Strong transcription	Fetal Intestine Large	intestine
35	chr14:81657000-81674000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:81657200-81663000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:81657200-81664000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:81657200-81664200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:81657200-81664200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:81657200-81664200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:81657200-81664800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:81657200-81672800	Strong transcription	Fetal Lung	lung
43	chr14:81657200-81673200	Strong transcription	HSMM	muscle
44	chr14:81657600-81663000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:81658200-81664400	Strong transcription	Osteobl	bone
46	chr14:81658200-81665000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr14:81658200-81665000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr14:81658400-81663000	Strong transcription	Fetal Brain Female	brain
49	chr14:81658800-81663000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:81658800-81664000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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