Variant report

Variant	rs550603983
Chromosome Location	chr14:104352935-104352936
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104335008..104337928-chr14:104351341..104353510,3	MCF-7	breast:
2	chr14:104348563..104350260-chr14:104352651..104354424,2	K562	blood:
3	chr14:104313013..104317291-chr14:104352199..104356564,5	MCF-7	breast:
4	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
5	chr14:104312594..104314828-chr14:104352032..104354856,2	MCF-7	breast:
6	chr14:104343585..104349004-chr14:104350289..104354893,7	MCF-7	breast:
7	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258534	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000258735	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	nsv9174	chr14:104352172-104362943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104347800-104353000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104348400-104353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:104348600-104355600	Weak transcription	Small Intestine	intestine
6	chr14:104349600-104355800	Weak transcription	Left Ventricle	heart
7	chr14:104349800-104353200	Weak transcription	Lung	lung
8	chr14:104349800-104353200	Weak transcription	Stomach Mucosa	stomach
9	chr14:104349800-104353400	Weak transcription	Esophagus	oesophagus
10	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:104349800-104353600	Weak transcription	Colonic Mucosa	Colon
13	chr14:104349800-104354000	Weak transcription	Right Ventricle	heart
14	chr14:104349800-104354800	Weak transcription	Gastric	stomach
15	chr14:104350000-104353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:104350000-104354000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:104351200-104354600	Enhancers	Spleen	Spleen
18	chr14:104351200-104355200	Enhancers	Placenta	Placenta
19	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:104351400-104355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:104351800-104353400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:104351800-104353400	Enhancers	Liver	Liver
23	chr14:104351800-104353600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:104351800-104355600	Enhancers	Fetal Intestine Small	intestine
25	chr14:104352000-104353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:104352000-104355600	Enhancers	Fetal Intestine Large	intestine
27	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
28	chr14:104352200-104354000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr14:104352400-104353400	Flanking Active TSS	HepG2	liver
30	chr14:104352400-104353600	Enhancers	Fetal Lung	lung
31	chr14:104352400-104353800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:104352600-104353000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:104352600-104353200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:104352600-104353200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:104352600-104353400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:104352600-104353400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr14:104352600-104353800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:104352600-104355600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:104352800-104353000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:104352800-104353200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr14:104352800-104353400	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr14:104352800-104353400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:104352800-104353400	Enhancers	Ovary	ovary
44	chr14:104352800-104355600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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