Variant report

Variant	rs554442025
Chromosome Location	chr14:31539132-31539133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31494054..31496618-chr14:31538814..31541069,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
10	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
6	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:31522800-31553600	Weak transcription	Lung	lung
9	chr14:31528000-31544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:31528200-31543200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:31528800-31541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:31528800-31552800	Weak transcription	Fetal Brain Female	brain
14	chr14:31528800-31559600	Weak transcription	Liver	Liver
15	chr14:31529000-31554400	Weak transcription	Colonic Mucosa	Colon
16	chr14:31529000-31559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:31529000-31559800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:31529600-31554000	Weak transcription	Spleen	Spleen
19	chr14:31529800-31539600	Weak transcription	Ovary	ovary
20	chr14:31529800-31548200	Weak transcription	Right Atrium	heart
21	chr14:31529800-31549600	Weak transcription	Esophagus	oesophagus
22	chr14:31529800-31559800	Weak transcription	Small Intestine	intestine
23	chr14:31529800-31566200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:31530000-31539200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:31530000-31539400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:31530000-31539400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:31530000-31539400	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:31530000-31539600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:31530000-31541600	Weak transcription	Pancreas	Pancrea
30	chr14:31530000-31542800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:31530000-31543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:31530000-31544000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:31530000-31553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:31530600-31539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:31530800-31559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:31533000-31553200	Weak transcription	Brain Anterior Caudate	brain
39	chr14:31533400-31560000	Weak transcription	Left Ventricle	heart
40	chr14:31534200-31566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31534400-31566200	Weak transcription	Fetal Thymus	thymus
42	chr14:31534600-31539200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:31534600-31539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:31534800-31543200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:31535800-31548000	Weak transcription	Hela-S3	cervix
48	chr14:31536200-31559800	Weak transcription	Brain Angular Gyrus	brain
49	chr14:31536400-31566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:31536600-31559600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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