Variant report

Variant	rs564222708
Chromosome Location	chr5:45695454-45695455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532804	chr5:45184041-45972996	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019807	chr5:45264656-45872829	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv537745	chr5:45264656-45872829	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916152	chr5:45273586-46115086	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015472	chr5:45320236-45900598	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv462133	chr5:45325915-46287112	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv597980	chr5:45325915-46287112	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1023516	chr5:45396769-45872829	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537748	chr5:45396769-45872829	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv462136	chr5:45406321-46228333	Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv597984	chr5:45406321-46228333	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv533064	chr5:45414583-46115086	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1031470	chr5:45472913-45872829	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv537749	chr5:45472913-45872829	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv525575	chr5:45479425-45912967	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1034156	chr5:45482635-46224012	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1027861	chr5:45499842-46251306	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1021254	chr5:45500335-45872968	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv537750	chr5:45500335-45872968	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv530229	chr5:45506336-46115086	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv597993	chr5:45537299-46265302	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv533265	chr5:45566963-45872828	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv597995	chr5:45666146-45996902	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1020341	chr5:45666181-45828460	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv537753	chr5:45666181-45828460	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv597996	chr5:45669038-46287112	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1034063	chr5:45671250-45708349	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1027084	chr5:45675353-46389261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv3355320	chr5:45694720-45697568	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv3491835	chr5:45694995-45697443	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv3491836	chr5:45694995-45697443	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45694400-45695600	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr5:45694400-45696400	Active TSS	Right Atrium	heart
3	chr5:45694400-45696600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:45694400-45696600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:45694400-45696800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:45694600-45696600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:45694600-45696600	Active TSS	Right Ventricle	heart
8	chr5:45694600-45697000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:45694800-45695600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:45694800-45695600	Bivalent Enhancer	Fetal Heart	heart
11	chr5:45694800-45695600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr5:45694800-45696000	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr5:45694800-45696200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:45694800-45696600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:45694800-45696600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:45694800-45696800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:45695000-45695600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:45695000-45695600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:45695000-45695600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
20	chr5:45695000-45695600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:45695000-45695800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:45695000-45695800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:45695000-45695800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr5:45695000-45695800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:45695000-45695800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:45695000-45695800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr5:45695000-45695800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr5:45695000-45696000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr5:45695000-45696000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr5:45695200-45695600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:45695200-45695600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:45695200-45695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:45695200-45695600	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr5:45695200-45695600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr5:45695200-45695600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr5:45695200-45695600	Bivalent Enhancer	Spleen	Spleen
37	chr5:45695200-45695600	Bivalent Enhancer	NHEK	skin
38	chr5:45695200-45695800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:45695200-45696000	Bivalent/Poised TSS	Ovary	ovary
40	chr5:45695200-45696200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:45695200-45696200	Bivalent Enhancer	Lung	lung
42	chr5:45695200-45696800	Active TSS	Fetal Brain Female	brain
43	chr5:45695400-45695600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:45695400-45695600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:45695400-45695600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:45695400-45695600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
47	chr5:45695400-45695600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr5:45695400-45695600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr5:45695400-45695600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
50	chr5:45695400-45695600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain

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