Variant report

Variant	rs11848219
Chromosome Location	chr14:63901493-63901494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63899201..63902873-chr14:64106888..64109598,3	K562	blood:
2	chr14:63900892..63902977-chr14:63913648..63915653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11846721	0.98[ASN][1000 genomes]
rs17225189	0.95[EUR][1000 genomes]
rs58297905	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61987169	0.98[ASN][1000 genomes]
rs73272599	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766079	1.00[EUR][1000 genomes];0.95[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
2	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
3	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:63859800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:63862000-63902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:63862200-63902600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:63862200-63903600	Weak transcription	HMEC	breast
10	chr14:63877400-63903200	Weak transcription	Aorta	Aorta
11	chr14:63877800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:63880800-63902000	Weak transcription	NHLF	lung
13	chr14:63880800-63902600	Weak transcription	Lung	lung
14	chr14:63880800-63904400	Weak transcription	NHEK	skin
15	chr14:63881400-63902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:63886000-63902000	Weak transcription	Fetal Intestine Small	intestine
17	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:63888200-63902200	Weak transcription	Adipose Nuclei	Adipose
20	chr14:63888400-63902000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:63888400-63902200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:63888400-63902200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:63888600-63902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:63888600-63902200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:63888600-63903200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:63888600-63903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:63888600-63904800	Weak transcription	Dnd41	blood
28	chr14:63888800-63902200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr14:63889000-63902200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:63889000-63902400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:63889000-63902600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:63889000-63902600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:63889000-63903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:63889000-63904400	Weak transcription	NH-A	brain
35	chr14:63889000-63905000	Weak transcription	Thymus	Thymus
36	chr14:63889200-63902000	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:63889200-63902200	Weak transcription	Primary B cells from cord blood	blood
38	chr14:63889200-63902200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:63889200-63902400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:63889200-63902600	Weak transcription	Fetal Brain Female	brain
41	chr14:63889200-63904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:63892000-63905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:63893800-63902600	Weak transcription	Fetal Brain Male	brain
44	chr14:63894600-63903600	Weak transcription	Spleen	Spleen
45	chr14:63898200-63903200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:63899000-63901600	Enhancers	Brain Substantia Nigra	brain
47	chr14:63899400-63902000	Weak transcription	Fetal Stomach	stomach
48	chr14:63899400-63902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:63899400-63902200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:63899400-63902200	Weak transcription	Colon Smooth Muscle	Colon

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