Variant report

Variant	rs551597427
Chromosome Location	chr2:145236123-145236124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
2	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
3	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv535959	chr2:145228576-145285400	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
21	nsv535960	chr2:145228576-145294503	Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
22	nsv535961	chr2:145234169-145285400	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145206800-145253400	Weak transcription	Lung	lung
2	chr2:145228800-145238200	Genic enhancers	K562	blood
3	chr2:145229000-145253600	Weak transcription	HUVEC	blood vessel
4	chr2:145229200-145240000	Weak transcription	Aorta	Aorta
5	chr2:145229400-145237000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:145229400-145242200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:145229600-145236200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:145229600-145241600	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:145229800-145237000	Enhancers	Brain Anterior Caudate	brain
10	chr2:145230200-145237000	Strong transcription	Primary B cells from cord blood	blood
11	chr2:145230200-145247200	Weak transcription	Colonic Mucosa	Colon
12	chr2:145230600-145236200	Enhancers	Fetal Heart	heart
13	chr2:145231400-145247200	Weak transcription	Gastric	stomach
14	chr2:145231800-145238800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:145231800-145241000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:145231800-145243600	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:145232000-145236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:145232000-145236800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:145232000-145236800	Weak transcription	Left Ventricle	heart
20	chr2:145232000-145237000	Weak transcription	Placenta	Placenta
21	chr2:145232000-145237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:145232000-145241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:145232200-145237800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:145233200-145240600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:145233400-145238600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:145233600-145236200	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr2:145233600-145239200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:145233600-145239600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:145233800-145236200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:145233800-145238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:145233800-145239000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:145234000-145236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:145234000-145238200	Enhancers	NH-A	brain
34	chr2:145234000-145238600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:145234200-145236800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:145234200-145236800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:145234200-145236800	Weak transcription	Right Ventricle	heart
38	chr2:145234200-145236800	Weak transcription	Spleen	Spleen
39	chr2:145234200-145252600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:145234400-145238600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:145234600-145236800	Weak transcription	Liver	Liver
42	chr2:145234800-145237400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:145235000-145236200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:145235000-145236200	Enhancers	Brain Germinal Matrix	brain
45	chr2:145235000-145236200	Genic enhancers	HSMM	muscle
46	chr2:145235000-145236200	Flanking Active TSS	NHLF	lung
47	chr2:145235000-145237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:145235000-145239400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:145235200-145236400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:145235200-145237600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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