Variant report

Variant	rs551708959
Chromosome Location	chr14:21990503-21990504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
2	chr14:21986110..21991599-chr14:21992205..21995667,7	MCF-7	breast:
3	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
4	chr14:21966582..21968425-chr14:21990390..21992940,3	K562	blood:
5	chr14:21983078..21988753-chr14:21989442..21992555,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000165821	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv522850	chr14:21989841-21998108	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
2	chr14:21980200-21991400	Weak transcription	Fetal Kidney	kidney
3	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
4	chr14:21980400-21991400	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:21980600-21991800	Weak transcription	Fetal Lung	lung
6	chr14:21980600-21991800	Weak transcription	Dnd41	blood
7	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:21982800-21992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:21983600-21991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:21986400-21990800	Weak transcription	Fetal Intestine Small	intestine
11	chr14:21986800-21991600	Weak transcription	Thymus	Thymus
12	chr14:21987200-21993600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:21988000-21994200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:21988400-21993000	Weak transcription	Fetal Thymus	thymus
15	chr14:21988600-21993600	Weak transcription	Right Ventricle	heart
16	chr14:21988800-21992800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:21989000-21992400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:21989000-21992800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:21989000-21992800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:21989200-21990600	Enhancers	Fetal Brain Female	brain
21	chr14:21989200-21991200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:21989200-21993400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:21989200-21993400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:21989400-21993200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:21989600-21993000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:21989600-21993400	Genic enhancers	H1 Cell Line	embryonic stem cell
27	chr14:21989800-21990600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:21989800-21990600	Weak transcription	Fetal Brain Male	brain
29	chr14:21989800-21990800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:21989800-21991000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:21989800-21991400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:21989800-21992200	Genic enhancers	Brain Germinal Matrix	brain
33	chr14:21989800-21992800	Genic enhancers	Brain Anterior Caudate	brain
34	chr14:21989800-21993000	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:21989800-21993400	Weak transcription	Fetal Heart	heart
36	chr14:21989800-21993600	Weak transcription	Adipose Nuclei	Adipose
37	chr14:21989800-21994000	Weak transcription	Esophagus	oesophagus
38	chr14:21990000-21990600	Strong transcription	Fetal Stomach	stomach
39	chr14:21990000-21990600	Enhancers	Lung	lung
40	chr14:21990000-21990800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
41	chr14:21990000-21990800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:21990000-21991000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:21990000-21991200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:21990000-21991600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:21990000-21992600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:21990000-21992800	Strong transcription	Ovary	ovary
47	chr14:21990000-21993000	Genic enhancers	H9 Cell Line	embryonic stem cell
48	chr14:21990000-21993000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:21990000-21993200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:21990000-21993200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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