Variant report

Variant	rs4903030
Chromosome Location	chr14:72984261-72984262
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72983158..72985383-chr14:73371359..73373304,2	MCF-7	breast:
2	chr14:72969545..72972507-chr14:72983434..72985736,2	K562	blood:
3	chr14:72982349..72984334-chr14:72990416..72992065,2	MCF-7	breast:
4	chr14:72983461..72984295-chr14:73409326..73409959,3	MCF-7	breast:
5	chr14:72982782..72984555-chr14:73370790..73372444,32	MCF-7	breast:
6	chr14:72970815..72972507-chr14:72982309..72984934,2	K562	blood:
7	chr14:72983236..72984286-chr14:73371375..73372352,5	MCF-7	breast:
8	chr14:72982739..72984627-chr14:73371117..73372356,12	K562	blood:
9	chr14:72982096..72985745-chr14:73392472..73395058,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119599	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10151504	1.00[JPT][hapmap]
rs17117195	1.00[JPT][hapmap]
rs4441203	0.86[CHB][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72981200-72986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:72981400-72985800	Weak transcription	Fetal Heart	heart
4	chr14:72981800-72984400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72982400-72985000	Enhancers	GM12878-XiMat	blood
6	chr14:72982600-72984800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:72982600-72985200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:72982600-72985400	Enhancers	NH-A	brain
9	chr14:72982800-72987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:72983000-72985000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:72983000-72985000	Enhancers	NHLF	lung
12	chr14:72983000-72985600	Enhancers	HSMM	muscle
13	chr14:72983200-72985200	Enhancers	Adipose Nuclei	Adipose
14	chr14:72983200-72985400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr14:72983200-72986600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:72983200-72986800	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:72983400-72984800	Enhancers	Ovary	ovary
18	chr14:72983400-72985000	Enhancers	Primary B cells from cord blood	blood
19	chr14:72983400-72985000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:72983400-72985200	Enhancers	Primary T cells from cord blood	blood
21	chr14:72983400-72985200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:72983400-72985200	Enhancers	Fetal Muscle Leg	muscle
23	chr14:72983400-72985400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:72983400-72985400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:72983400-72985400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:72983400-72985600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:72983400-72986600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:72983400-72986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:72983400-72986800	Enhancers	Dnd41	blood
30	chr14:72983400-72987200	Enhancers	Fetal Thymus	thymus
31	chr14:72983600-72984600	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:72983600-72985600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:72983600-72987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
35	chr14:72983800-72984400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:72983800-72984400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:72983800-72984400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:72983800-72984400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:72983800-72984600	Enhancers	Fetal Brain Female	brain
40	chr14:72983800-72984600	Enhancers	Fetal Lung	lung
41	chr14:72983800-72984600	Enhancers	HSMMtube	muscle
42	chr14:72983800-72984800	Enhancers	Liver	Liver
43	chr14:72983800-72985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:72983800-72985600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr14:72983800-72986600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:72983800-72987000	Enhancers	Primary hematopoietic stem cells	blood
47	chr14:72984000-72984800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:72984000-72984800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr14:72984000-72985000	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:72984000-72985400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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