Variant report

Variant	rs2415549
Chromosome Location	chr14:39899968-39899969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:
2	chr14:39734882..39737237-chr14:39899749..39901875,2	MCF-7	breast:
3	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11157067	0.86[AFR][1000 genomes]
rs11847057	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12232110	0.93[ASN][1000 genomes]
rs12587625	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588175	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588483	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589427	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12590172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882250	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12883652	0.87[ASN][1000 genomes]
rs12884747	0.95[AFR][1000 genomes]
rs12886769	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12894855	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12897960	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17109300	0.95[AFR][1000 genomes]
rs17109328	0.94[AFR][1000 genomes]
rs1950329	0.95[AFR][1000 genomes]
rs1950334	0.93[AFR][1000 genomes]
rs1950336	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1950338	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955718	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2038278	0.87[ASN][1000 genomes]
rs2057138	0.95[AFR][1000 genomes]
rs2207291	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274395	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415550	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899888	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2899889	0.93[ASN][1000 genomes]
rs34432449	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34649642	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34687394	0.95[AFR][1000 genomes]
rs34928332	0.80[ASN][1000 genomes]
rs35115885	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35459433	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35553183	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35643160	0.95[AFR][1000 genomes]
rs35693868	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35876588	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35923045	0.94[AFR][1000 genomes]
rs36010374	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814860	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899245	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899277	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899278	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899291	0.94[AFR][1000 genomes]
rs4902569	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4902570	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4902598	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902599	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902622	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902636	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902648	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902665	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902676	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902692	0.95[AFR][1000 genomes]
rs56046902	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67439322	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67963654	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71407788	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71407789	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140983	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145821	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7148377	0.87[ASN][1000 genomes]
rs7152341	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152935	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153413	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158709	0.95[AFR][1000 genomes]
rs7161403	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718364	0.87[ASN][1000 genomes]
rs72675487	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003397	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003621	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006321	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8020250	0.94[AFR][1000 genomes]
rs910370	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs910371	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9332387	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39886600-39900000	Weak transcription	Esophagus	oesophagus
2	chr14:39886600-39900000	Weak transcription	Pancreas	Pancrea
3	chr14:39896000-39900000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:39896000-39900200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:39896400-39900000	Weak transcription	A549	lung
6	chr14:39897200-39900000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:39897400-39900000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:39897600-39900000	Weak transcription	Lung	lung
9	chr14:39897800-39903000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr14:39898000-39900400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:39898200-39900000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:39898200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:39898400-39900400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:39898400-39900600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:39898600-39900200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr14:39898600-39900800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:39898800-39900000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:39898800-39900000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:39898800-39900000	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr14:39898800-39900000	Enhancers	Gastric	stomach
21	chr14:39898800-39900000	Flanking Active TSS	HepG2	liver
22	chr14:39898800-39900200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:39898800-39900200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr14:39898800-39900200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:39898800-39900200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr14:39898800-39900200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:39898800-39900200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:39898800-39900200	Flanking Active TSS	Thymus	Thymus
29	chr14:39898800-39900200	Flanking Active TSS	Hela-S3	cervix
30	chr14:39898800-39900400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr14:39898800-39900400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr14:39898800-39900400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr14:39898800-39900400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr14:39898800-39900400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr14:39898800-39900600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:39898800-39900600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr14:39898800-39900600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:39898800-39900600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr14:39898800-39900600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr14:39898800-39900600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:39898800-39900600	Flanking Active TSS	Dnd41	blood
42	chr14:39898800-39900800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr14:39898800-39900800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:39898800-39900800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:39898800-39901200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:39899000-39900000	Enhancers	Small Intestine	intestine
47	chr14:39899000-39900200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:39899000-39900200	Enhancers	Placenta	Placenta
49	chr14:39899000-39900400	Enhancers	Spleen	Spleen
50	chr14:39899000-39900600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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