Variant report

Variant	rs4900584
Chromosome Location	chr14:104090499-104090500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104089914..104092902-chr14:104103042..104105826,2	K562	blood:
3	chr14:104021728..104024444-chr14:104089391..104091550,2	K562	blood:
4	chr14:104089889..104092847-chr14:104093725..104096816,6	K562	blood:
5	chr14:104090146..104091917-chr14:104185112..104187505,2	MCF-7	breast:
6	chr14:104088488..104094508-chr14:104095620..104100899,7	K562	blood:

Variant related genes	Relation type
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10047805	0.86[ASN][1000 genomes]
rs1054080	0.81[ASN][1000 genomes]
rs1078756	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11160754	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11160755	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160756	0.80[ASN][1000 genomes]
rs11850979	0.86[ASN][1000 genomes]
rs12431809	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12433529	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12434218	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12435399	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12881418	0.80[ASN][1000 genomes]
rs12897511	0.85[ASN][1000 genomes]
rs2403203	0.84[ASN][1000 genomes]
rs2896489	0.88[ASN][1000 genomes]
rs34259310	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35015260	0.80[ASN][1000 genomes]
rs35686878	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35918322	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742465	0.85[ASN][1000 genomes]
rs3759586	0.91[ASN][1000 genomes]
rs4318144	0.85[ASN][1000 genomes]
rs4561394	0.96[ASN][1000 genomes]
rs4900583	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906340	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4906342	0.80[ASN][1000 genomes]
rs4906348	0.91[ASN][1000 genomes]
rs4906349	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906352	0.86[ASN][1000 genomes]
rs4906355	0.83[ASN][1000 genomes]
rs55647815	0.82[ASN][1000 genomes]
rs61436277	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7145234	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154572	0.96[ASN][1000 genomes]
rs7155511	0.85[ASN][1000 genomes]
rs7156832	0.95[ASN][1000 genomes]
rs72710744	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs729437	0.80[ASN][1000 genomes]
rs8007903	0.83[ASN][1000 genomes]
rs8007915	0.80[ASN][1000 genomes]
rs8008451	0.88[ASN][1000 genomes]
rs8012775	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8018214	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	esv3490243	chr14:104083248-104099394	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
10	esv3490244	chr14:104083248-104099394	Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4900584	ZFYVE21	Cis_1M	lymphoblastoid	RTeQTL
rs4900584	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104085800-104091200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:104089400-104091200	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:104089600-104091200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr14:104089600-104091200	Enhancers	Dnd41	blood
5	chr14:104089600-104092000	Enhancers	NHLF	lung
6	chr14:104089600-104092600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:104089600-104092800	Enhancers	Spleen	Spleen
8	chr14:104089800-104090600	Enhancers	Ovary	ovary
9	chr14:104089800-104091200	Enhancers	Primary B cells from cord blood	blood
10	chr14:104089800-104092400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:104089800-104092600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:104089800-104093600	Enhancers	Lung	lung
13	chr14:104090000-104090600	Enhancers	Hela-S3	cervix
14	chr14:104090000-104090800	Enhancers	Fetal Lung	lung
15	chr14:104090000-104091200	Enhancers	A549	lung
16	chr14:104090000-104091200	Enhancers	GM12878-XiMat	blood
17	chr14:104090000-104091400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:104090000-104091400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:104090000-104091400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:104090000-104091400	Enhancers	Fetal Heart	heart
21	chr14:104090000-104091600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:104090000-104091600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:104090000-104092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:104090000-104092000	Enhancers	Left Ventricle	heart
25	chr14:104090000-104092600	Enhancers	Primary T cells from cord blood	blood
26	chr14:104090000-104093000	Enhancers	HSMMtube	muscle
27	chr14:104090200-104090600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr14:104090200-104090600	Bivalent Enhancer	Thymus	Thymus
29	chr14:104090200-104090800	Enhancers	Pancreas	Pancrea
30	chr14:104090200-104090800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:104090200-104090800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr14:104090200-104090800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr14:104090200-104091000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:104090200-104091000	Enhancers	Gastric	stomach
35	chr14:104090200-104091000	Enhancers	Psoas Muscle	Psoas
36	chr14:104090200-104091200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:104090200-104091200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:104090200-104091200	Enhancers	Colonic Mucosa	Colon
39	chr14:104090200-104091200	Enhancers	Osteobl	bone
40	chr14:104090200-104091400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:104090200-104091400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:104090200-104091600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr14:104090200-104091600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr14:104090200-104091600	Enhancers	Right Ventricle	heart
45	chr14:104090200-104091800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:104090200-104091800	Enhancers	Right Atrium	heart
47	chr14:104090200-104091800	Enhancers	Stomach Mucosa	stomach
48	chr14:104090200-104091800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr14:104090200-104092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:104090200-104092000	Enhancers	Primary hematopoietic stem cells	blood

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