Variant report

Variant	rs2819418
Chromosome Location	chr14:105400324-105400325
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105399205..105401135-chr14:105489654..105492411,2	MCF-7	breast:
2	chr14:105365193..105367745-chr14:105399799..105401436,2	K562	blood:
3	chr14:105393329..105396153-chr14:105398779..105401055,3	MCF-7	breast:
4	chr14:105399823..105400369-chr14:105511778..105512655,3	MCF-7	breast:
5	chr14:105375706..105377336-chr14:105399096..105400699,2	MCF-7	breast:
6	chr14:105399321..105400390-chr14:105511737..105512711,3	K562	blood:
7	chr14:105399483..105402053-chr14:105402231..105403735,2	MCF-7	breast:
8	chr14:105398736..105403202-chr14:105431579..105436953,6	MCF-7	breast:
9	chr14:105398840..105402135-chr14:105423492..105426295,4	MCF-7	breast:
10	chr14:105284508..105286639-chr14:105398983..105401312,2	MCF-7	breast:
11	chr14:105380860..105383186-chr14:105398917..105400427,2	MCF-7	breast:
12	chr14:105399113..105400840-chr14:105456852..105459297,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140104	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3322061	chr14:105398932-105401780	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3388599	chr14:105399207-105401355	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105398400-105400800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:105398800-105400600	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:105398800-105400800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:105398800-105400800	Active TSS	Brain Angular Gyrus	brain
5	chr14:105399000-105400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:105399000-105400400	Active TSS	Aorta	Aorta
7	chr14:105399000-105400400	Active TSS	Right Atrium	heart
8	chr14:105399200-105400400	Active TSS	Right Ventricle	heart
9	chr14:105399200-105400600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:105399200-105400600	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr14:105399200-105400800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:105399400-105400600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:105399400-105401000	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:105399600-105400400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr14:105399600-105400400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:105399600-105400400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:105399600-105400400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:105399600-105400400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:105399600-105400400	Active TSS	Psoas Muscle	Psoas
20	chr14:105399600-105400600	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr14:105399600-105400600	Active TSS	Adipose Nuclei	Adipose
22	chr14:105399600-105400600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr14:105399600-105400800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:105399600-105406800	Weak transcription	Spleen	Spleen
25	chr14:105399800-105400400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:105399800-105400400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:105399800-105400400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:105399800-105400400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:105399800-105400400	Weak transcription	Esophagus	oesophagus
30	chr14:105399800-105400400	Active TSS	Ovary	ovary
31	chr14:105399800-105400600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:105399800-105400600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:105399800-105400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:105399800-105400600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:105399800-105400600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:105399800-105400600	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:105399800-105400600	Weak transcription	Lung	lung
38	chr14:105399800-105404400	Weak transcription	A549	lung
39	chr14:105399800-105405800	Weak transcription	Brain Substantia Nigra	brain
40	chr14:105399800-105405800	Weak transcription	HMEC	breast
41	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
42	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
45	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:105400000-105400400	Active TSS	Thymus	Thymus
47	chr14:105400000-105400800	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:105400000-105400800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:105400000-105400800	Weak transcription	Pancreas	Pancrea
50	chr14:105400200-105400400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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