Variant report

Variant	rs551127456
Chromosome Location	chr22:29875684-29875685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:29875358-29878062	SK-N-SH	brain:	n/a	chr22:29877653-29877662
2	ZBTB7A	chr22:29875649-29876353	ECC-1	luminal epithelium:	n/a	n/a
3	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
4	REST	chr22:29875571-29875784	SK-N-SH	brain:	n/a	n/a
5	REST	chr22:29873719-29876257	ECC-1	luminal epithelium:	n/a	chr22:29874670-29874684 chr22:29876114-29876127 chr22:29874664-29874684 chr22:29876194-29876204 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189 chr22:29876192-29876206
6	REST	chr22:29875494-29875719	K562	blood:	n/a	n/a
7	REST	chr22:29873747-29876490	ECC-1	luminal epithelium:	n/a	chr22:29874670-29874684 chr22:29876114-29876127 chr22:29874664-29874684 chr22:29876194-29876204 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189 chr22:29876192-29876206
8	REST	chr22:29873788-29876008	HL-60	blood:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
9	MAX	chr22:29875631-29878091	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127 chr22:29877654-29877663

No.	Distal block	Cell Line	Cell type
1	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
2	chr22:29702481..29704174-chr22:29874105..29876353,2	K562	blood:
3	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:

Variant related genes	Relation type
NEFH	TF binding region
RFPL1S	TF binding region
ENSG00000100296	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv438344	chr22:29856079-29886043	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3371117	chr22:29874452-29879050	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873400-29875800	Enhancers	K562	blood
2	chr22:29873800-29875800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr22:29873800-29876200	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr22:29873800-29876400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
6	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
7	chr22:29874000-29876200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29874200-29875800	Enhancers	Ovary	ovary
9	chr22:29874200-29876000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:29874200-29876400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr22:29874400-29877000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr22:29874600-29875800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:29874600-29876000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:29874600-29876400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr22:29874600-29877400	Active TSS	Brain Anterior Caudate	brain
18	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr22:29874800-29875800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr22:29874800-29876200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr22:29874800-29876400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr22:29874800-29876400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr22:29874800-29877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr22:29875000-29876000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29875000-29876000	Weak transcription	Gastric	stomach
26	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr22:29875200-29875800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:29875200-29876000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:29875200-29876000	Bivalent Enhancer	Spleen	Spleen
30	chr22:29875200-29877600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:29875400-29875800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:29875400-29875800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:29875400-29876000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr22:29875400-29876000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr22:29875400-29876000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:29875400-29876200	Bivalent/Poised TSS	Right Ventricle	heart
37	chr22:29875400-29876400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr22:29875400-29876800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr22:29875600-29875800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr22:29875600-29875800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr22:29875600-29875800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr22:29875600-29875800	Bivalent Enhancer	Primary T cells from cord blood	blood
43	chr22:29875600-29875800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:29875600-29875800	Flanking Active TSS	Fetal Brain Male	brain
45	chr22:29875600-29875800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
46	chr22:29875600-29875800	Bivalent/Poised TSS	HMEC	breast
47	chr22:29875600-29876000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr22:29875600-29876000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr22:29875600-29876200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:29875600-29876200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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