Variant report

Variant	rs184347875
Chromosome Location	chr14:65346356-65346357
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	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
2	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
3	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
7	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:65345400-65347800	Active TSS	Right Atrium	heart
9	chr14:65345600-65347000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
14	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
15	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:65345800-65346400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:65345800-65346400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr14:65345800-65346600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:65345800-65346800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:65345800-65346800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr14:65345800-65347400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:65345800-65347400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:65345800-65347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:65345800-65347600	Active TSS	Brain Substantia Nigra	brain
25	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
27	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
28	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:65346000-65346400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:65346000-65346400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:65346000-65346400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:65346000-65346400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65346000-65346400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr14:65346000-65346400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:65346000-65346400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:65346000-65346400	Flanking Active TSS	Liver	Liver
37	chr14:65346000-65346400	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr14:65346000-65346400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr14:65346000-65346400	Bivalent/Poised TSS	Thymus	Thymus
40	chr14:65346000-65346400	Bivalent/Poised TSS	Spleen	Spleen
41	chr14:65346000-65346600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:65346000-65346600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:65346000-65346600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr14:65346000-65346800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:65346000-65347000	Weak transcription	Fetal Heart	heart
46	chr14:65346000-65347000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr14:65346000-65347000	Bivalent/Poised TSS	HSMM	muscle
48	chr14:65346000-65347400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr14:65346000-65347400	Bivalent/Poised TSS	Esophagus	oesophagus
50	chr14:65346000-65347400	Active TSS	Fetal Kidney	kidney

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