Variant report

Variant	rs190692701
Chromosome Location	chr14:65345822-65345823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr12:57482006..57484279-chr14:65344658..65346177,2	MCF-7	breast:
6	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000126804	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65344200-65346000	Flanking Active TSS	K562	blood
2	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
4	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:65345400-65346000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
9	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:65345400-65347800	Active TSS	Right Atrium	heart
11	chr14:65345600-65346000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:65345600-65346000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr14:65345600-65346000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr14:65345600-65346000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr14:65345600-65346000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:65345600-65346000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:65345600-65346000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr14:65345600-65346000	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr14:65345600-65346200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr14:65345600-65346200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:65345600-65346200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr14:65345600-65347000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
29	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
30	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr14:65345800-65346000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:65345800-65346000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:65345800-65346000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:65345800-65346000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr14:65345800-65346000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr14:65345800-65346000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr14:65345800-65346000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr14:65345800-65346000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr14:65345800-65346000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65345800-65346000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr14:65345800-65346000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:65345800-65346000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:65345800-65346000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:65345800-65346000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:65345800-65346000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:65345800-65346000	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr14:65345800-65346000	Enhancers	Liver	Liver
48	chr14:65345800-65346000	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr14:65345800-65346000	Active TSS	Fetal Heart	heart
50	chr14:65345800-65346000	Bivalent Enhancer	Fetal Intestine Small	intestine

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