Variant report

Variant	rs558372339
Chromosome Location	chr14:104334454-104334455
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104320014..104324951-chr14:104331915..104336985,8	MCF-7	breast:
2	chr14:104333923..104335751-chr14:104336446..104338911,2	MCF-7	breast:
3	chr14:104333964..104338190-chr14:104344769..104347298,4	MCF-7	breast:
4	chr14:104322796..104324811-chr14:104333710..104335450,2	K562	blood:
5	chr14:104330031..104331593-chr14:104332707..104335169,2	MCF-7	breast:
6	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
7	chr14:104327639..104330027-chr14:104333927..104335918,2	MCF-7	breast:
8	chr14:104332785..104335222-chr14:104358563..104360147,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258534	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv9173	chr14:104334250-104336486	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104323600-104336000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:104323600-104337600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:104326600-104336400	Weak transcription	Right Atrium	heart
4	chr14:104328200-104336000	Weak transcription	Spleen	Spleen
5	chr14:104329400-104338000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:104332200-104337200	Enhancers	Pancreas	Pancrea
7	chr14:104333200-104337200	Enhancers	Right Ventricle	heart
8	chr14:104333400-104335200	Enhancers	Gastric	stomach
9	chr14:104333400-104337200	Enhancers	Esophagus	oesophagus
10	chr14:104333600-104334600	Enhancers	Brain Substantia Nigra	brain
11	chr14:104333600-104334600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:104333600-104334600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:104333600-104334600	Enhancers	Fetal Stomach	stomach
14	chr14:104333600-104334600	Enhancers	Left Ventricle	heart
15	chr14:104333600-104334600	Enhancers	Hela-S3	cervix
16	chr14:104333600-104334600	Flanking Active TSS	HepG2	liver
17	chr14:104333600-104334800	Enhancers	Fetal Heart	heart
18	chr14:104333600-104334800	Enhancers	Stomach Mucosa	stomach
19	chr14:104333600-104335000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:104333600-104335400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:104333600-104335600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:104333600-104335600	Enhancers	HMEC	breast
23	chr14:104333800-104334600	Enhancers	Brain Angular Gyrus	brain
24	chr14:104333800-104334600	Enhancers	Brain Hippocampus Middle	brain
25	chr14:104333800-104334600	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:104333800-104334800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:104333800-104334800	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:104333800-104334800	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:104333800-104338400	Enhancers	Placenta	Placenta
30	chr14:104334000-104334600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:104334000-104337800	Weak transcription	Colonic Mucosa	Colon
32	chr14:104334000-104338400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:104334200-104334600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr14:104334200-104334600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:104334200-104334600	Enhancers	Lung	lung
36	chr14:104334200-104334800	Enhancers	Colon Smooth Muscle	Colon
37	chr14:104334200-104335000	Flanking Active TSS	NHEK	skin
38	chr14:104334400-104334600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:104334400-104334600	Enhancers	Fetal Lung	lung
40	chr14:104334400-104334600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:104334400-104334800	Enhancers	Fetal Intestine Large	intestine
42	chr14:104334400-104334800	Enhancers	Stomach Smooth Muscle	stomach
43	chr14:104334400-104335000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:104334400-104335400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:104334400-104335800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:104334400-104335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:104334400-104336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:104334400-104336800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:104334400-104337600	Weak transcription	Liver	Liver
50	chr14:104334400-104338000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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