Variant report

Variant	rs11850579
Chromosome Location	chr14:39638507-39638508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39624043..39626785-chr14:39637503..39639794,2	K562	blood:
2	chr14:39637610..39639234-chr14:39680366..39682544,2	MCF-7	breast:
3	chr14:39636723..39639312-chr14:39766672..39768267,2	MCF-7	breast:
4	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
5	chr14:39631838..39633415-chr14:39636342..39639514,3	MCF-7	breast:
6	chr14:39635717..39639064-chr14:39734944..39738287,4	MCF-7	breast:
7	chr14:39602771..39604896-chr14:39637781..39640211,2	MCF-7	breast:
8	chr14:39638262..39639790-chr14:39854572..39857043,2	K562	blood:
9	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
10	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
11	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
12	chr14:39570654..39572608-chr14:39637696..39639686,2	K562	blood:
13	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
14	chr14:39560368..39562617-chr14:39637895..39640290,2	MCF-7	breast:
15	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258651	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258671	Chromatin interaction
ENSG00000259100	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000241984	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000092208	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1002193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129762	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10131369	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10134166	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140763	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142117	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145476	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1040680	0.83[AMR][1000 genomes]
rs1050136	0.99[ASN][1000 genomes]
rs11622731	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.83[ASN][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11851680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587208	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13379129	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17092044	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17092050	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs17108948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2273592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes]
rs28501673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28583114	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28666016	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28701960	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28821293	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs45622837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57482489	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57555422	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58601678	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59465524	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74048711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761805	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 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	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:39627000-39638800	Weak transcription	Gastric	stomach
4	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:39631600-39638600	Weak transcription	Esophagus	oesophagus
6	chr14:39631800-39638600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:39632200-39638600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:39632200-39638600	Weak transcription	Pancreas	Pancrea
9	chr14:39632400-39638600	Weak transcription	Lung	lung
10	chr14:39634200-39638600	Weak transcription	Left Ventricle	heart
11	chr14:39634200-39638800	Weak transcription	Spleen	Spleen
12	chr14:39635000-39638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:39635400-39638800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:39635600-39638800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:39636000-39638600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:39636000-39638600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:39636000-39638600	Weak transcription	Placenta	Placenta
18	chr14:39636200-39638800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:39636200-39640200	Active TSS	GM12878-XiMat	blood
20	chr14:39636400-39638600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39636800-39640600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:39637000-39638800	Weak transcription	Stomach Mucosa	stomach
23	chr14:39637200-39638600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:39637400-39638600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:39637400-39638800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:39637400-39639200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr14:39637400-39640200	Active TSS	Ovary	ovary
28	chr14:39637400-39640200	Active TSS	K562	blood
29	chr14:39637400-39640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39637600-39638600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:39637600-39638600	Enhancers	Primary B cells from cord blood	blood
32	chr14:39637600-39638600	Flanking Active TSS	Fetal Kidney	kidney
33	chr14:39637600-39638600	Flanking Active TSS	Fetal Lung	lung
34	chr14:39637600-39639000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr14:39637600-39639000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr14:39637600-39639200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:39637600-39639400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:39637600-39639400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr14:39637600-39640000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:39637600-39640200	Active TSS	HSMMtube	muscle
41	chr14:39637600-39640400	Active TSS	Aorta	Aorta
42	chr14:39637600-39640400	Active TSS	NHDF-Ad	bronchial
43	chr14:39637600-39640400	Active TSS	NHLF	lung
44	chr14:39637800-39638600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:39637800-39638600	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:39637800-39638600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:39637800-39638600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:39637800-39638600	Flanking Active TSS	Fetal Brain Male	brain
49	chr14:39637800-39638600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:39637800-39638600	Flanking Active TSS	HepG2	liver

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