Variant report

Variant	rs548100342
Chromosome Location	chr14:39900453-39900454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr1:47082038..47082599-chr14:39900004..39900650,2	Hela-S3	cervix:
3	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:
4	chr14:39734882..39737237-chr14:39899749..39901875,2	MCF-7	breast:
5	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:
6	chr14:39900267..39901029-chr20:30193302..30193910,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000259083	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000142961	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3428481	chr14:39900201-39903099	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39897800-39903000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr14:39898200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:39898400-39900600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr14:39898600-39900800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr14:39898800-39900600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:39898800-39900600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:39898800-39900600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr14:39898800-39900600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr14:39898800-39900600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr14:39898800-39900600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr14:39898800-39900600	Flanking Active TSS	Dnd41	blood
12	chr14:39898800-39900800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr14:39898800-39900800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr14:39898800-39900800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr14:39898800-39901200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:39899000-39900600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:39899000-39900800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr14:39899000-39900800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr14:39899000-39903000	Active TSS	Psoas Muscle	Psoas
20	chr14:39899000-39903000	Active TSS	Right Atrium	heart
21	chr14:39899000-39903200	Active TSS	Aorta	Aorta
22	chr14:39899000-39903200	Active TSS	Ovary	ovary
23	chr14:39899200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:39899200-39900600	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr14:39899200-39900600	Flanking Active TSS	HMEC	breast
26	chr14:39899200-39900600	Flanking Active TSS	HUVEC	blood vessel
27	chr14:39899200-39903000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:39899200-39903200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:39899200-39903200	Active TSS	NHLF	lung
30	chr14:39899400-39902600	Active TSS	Brain Hippocampus Middle	brain
31	chr14:39899400-39902600	Active TSS	Fetal Heart	heart
32	chr14:39899400-39902800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:39899400-39902800	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:39899400-39903000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:39899400-39903200	Active TSS	Right Ventricle	heart
36	chr14:39899600-39900600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr14:39899600-39900600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:39899600-39900600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr14:39899600-39900800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr14:39899600-39902800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:39899600-39902800	Active TSS	NHDF-Ad	bronchial
42	chr14:39899600-39903000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:39899600-39903000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:39899600-39903000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:39899600-39903000	Active TSS	Left Ventricle	heart
46	chr14:39899800-39900800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr14:39899800-39900800	Flanking Active TSS	Liver	Liver
48	chr14:39899800-39900800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr14:39899800-39902400	Active TSS	Brain Substantia Nigra	brain
50	chr14:39899800-39902800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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