Variant report

Variant	rs550781087
Chromosome Location	chr5:14582496-14582497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14582227..14584118-chr5:14585804..14588637,2	K562	blood:
2	chr5:14582284..14584528-chr5:14622359..14624603,2	MCF-7	breast:
3	chr5:14487528..14489858-chr5:14581341..14583372,2	MCF-7	breast:
4	chr5:14497681..14499439-chr5:14580941..14582507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv1796116	chr5:14572712-14582501	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1793651	chr5:14575698-14584695	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv1837962	chr5:14578546-14582501	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv1837207	chr5:14578799-14582501	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv597242	chr5:14581556-14582501	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv1839029	chr5:14581556-14584695	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	esv1837510	chr5:14581556-14591004	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	esv13632	chr5:14581738-14582568	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	nsv597246	chr5:14581766-14582501	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	esv1817801	chr5:14581766-14583006	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv1848779	chr5:14581766-14583006	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
16	nsv597247	chr5:14581766-14583006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
17	nsv597250	chr5:14581823-14582501	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
18	nsv597252	chr5:14581874-14582501	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	nsv597253	chr5:14581925-14582501	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14580800-14583400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:14580800-14583400	Active TSS	Colonic Mucosa	Colon
3	chr5:14581000-14583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:14581000-14583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:14581200-14582600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:14581200-14582800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:14581200-14582800	Active TSS	Brain Hippocampus Middle	brain
8	chr5:14581200-14582800	Active TSS	Brain Substantia Nigra	brain
9	chr5:14581200-14582800	Active TSS	Right Atrium	heart
10	chr5:14581200-14583000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14581200-14583000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:14581200-14583000	Bivalent/Poised TSS	NHEK	skin
13	chr5:14581200-14583200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr5:14581200-14583200	Active TSS	Brain Anterior Caudate	brain
15	chr5:14581200-14583200	Active TSS	Fetal Brain Female	brain
16	chr5:14581200-14583400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr5:14581200-14583400	Active TSS	Brain Angular Gyrus	brain
18	chr5:14581400-14582600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:14581400-14582600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:14581400-14582600	Bivalent/Poised TSS	HSMMtube	muscle
21	chr5:14581400-14582800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:14581400-14582800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:14581400-14582800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:14581400-14582800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:14581400-14582800	Active TSS	Aorta	Aorta
26	chr5:14581400-14582800	Active TSS	Esophagus	oesophagus
27	chr5:14581400-14582800	Active TSS	Lung	lung
28	chr5:14581400-14582800	Active TSS	Ovary	ovary
29	chr5:14581400-14582800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr5:14581400-14583000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:14581400-14583000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:14581400-14583000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr5:14581400-14583000	Active TSS	A549	lung
34	chr5:14581400-14583200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr5:14581400-14583200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:14581400-14583200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:14581400-14583200	Active TSS	Fetal Kidney	kidney
38	chr5:14581400-14583400	Active TSS	Brain Cingulate Gyrus	brain
39	chr5:14581400-14583400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr5:14581400-14584000	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:14581400-14584400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:14581600-14582600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:14581600-14582600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:14581600-14582600	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr5:14581600-14582600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr5:14581600-14582600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:14581600-14582600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:14581600-14582600	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr5:14581600-14582600	Weak transcription	Fetal Brain Male	brain
50	chr5:14581600-14582600	Active TSS	Fetal Thymus	thymus

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