Variant report

Variant	rs563828633
Chromosome Location	chr22:29874767-29874768
allele	C/T
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	ZNF143	chr22:29874504-29874859	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr22:29874477-29874860	HCT-116	colon:	n/a	n/a
3	REST	chr22:29873916-29875515	U87	brain:	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
4	REST	chr22:29873863-29875121	SK-N-SH	brain:	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
5	REST	chr22:29874272-29875050	Hela-S3	cervix:	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
6	REST	chr22:29873986-29875289	H1-hESC	embryonic stem cell:	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
7	SIN3AK20	chr22:29874520-29874852	K562	blood:	n/a	n/a
8	ZNF143	chr22:29874471-29874820	K562	blood:	n/a	n/a
9	ZMIZ1	chr22:29874643-29874770	K562	blood:	n/a	n/a
10	REST	chr22:29874487-29874896	HepG2	liver:	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
11	REST	chr22:29873896-29875162	PFSK-1	brain:	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
12	HCFC1	chr22:29874628-29874784	K562	blood:	n/a	n/a
13	REST	chr22:29874416-29875039	K562	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
14	REST	chr22:29874019-29875106	PANC-1	pancreas:	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
15	HDAC2	chr22:29874524-29874782	K562	blood:	n/a	chr22:29874664-29874683
16	REST	chr22:29874464-29874872	HepG2	liver:	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
17	MAX	chr22:29874530-29874774	K562	blood:	n/a	chr22:29874642-29874651
18	FOXA1	chr22:29874590-29874797	T-47D	breast:	n/a	n/a
19	SIN3A	chr22:29874445-29874864	H1-hESC	embryonic stem cell:	n/a	chr22:29874664-29874677 chr22:29874669-29874683
20	REST	chr22:29874369-29874880	U87	brain:	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
21	REST	chr22:29874358-29875001	HepG2	liver:	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
22	REST	chr22:29873775-29875378	PFSK-1	brain:	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
23	REST	chr22:29873919-29875187	K562	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
24	REST	chr22:29874169-29875048	GM12878	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
25	ZBTB7A	chr22:29874391-29874951	ECC-1	luminal epithelium:	n/a	chr22:29874768-29874776 chr22:29874768-29874782
26	MAZ	chr22:29873999-29874868	K562	blood:	n/a	chr22:29874642-29874651
27	TCF12	chr22:29874433-29874931	ECC-1	luminal epithelium:	n/a	n/a
28	SIN3AK20	chr22:29874542-29874847	K562	blood:	n/a	n/a
29	MAX	chr22:29874431-29874794	ECC-1	luminal epithelium:	n/a	chr22:29874642-29874651
30	TCF12	chr22:29874518-29875068	ECC-1	luminal epithelium:	n/a	n/a
31	REST	chr22:29874265-29875121	H1-neurons	neurons:	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
32	SIN3AK20	chr22:29874466-29874771	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr22:29874339-29875088	HCT-116	colon:	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
34	MYC	chr22:29874626-29874846	K562	blood:	n/a	chr22:29874642-29874651
35	EP300	chr22:29874697-29874787	K562	blood:	n/a	n/a
36	REST	chr22:29874144-29875236	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
37	REST	chr22:29874237-29875091	PFSK-1	brain:	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
38	REST	chr22:29874398-29875039	HCT-116	colon:	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
39	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
40	REST	chr22:29874403-29874826	U87	brain:	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
41	REST	chr22:29874493-29874922	GM12878	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
42	REST	chr22:29874308-29875081	PANC-1	pancreas:	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
43	TEAD4	chr22:29874378-29874979	A549	lung:	n/a	n/a
44	JUND	chr22:29874636-29874803	K562	blood:	n/a	n/a
45	REST	chr22:29873870-29875517	U87	brain:	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
46	MXI1	chr22:29874490-29874812	K562	blood:	n/a	n/a
47	REST	chr22:29874414-29874882	PANC-1	pancreas:	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
48	REST	chr22:29874507-29874796	HepG2	liver:	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
49	REST	chr22:29873746-29875512	A549	lung:	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
50	REST	chr22:29874537-29874797	SK-N-SH	brain:	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

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
RFPL1S	TF binding region
NEFH	TF binding region
ENSG00000100280	Chromatin interaction
ENSG00000100296	Chromatin interaction
ENSG00000185340	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873200-29875400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:29873400-29875800	Enhancers	K562	blood
3	chr22:29873600-29874800	Enhancers	Brain Substantia Nigra	brain
4	chr22:29873600-29874800	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29873600-29875000	Enhancers	Dnd41	blood
6	chr22:29873600-29875600	Enhancers	Fetal Brain Male	brain
7	chr22:29873800-29874800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29873800-29875600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29873800-29875800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr22:29873800-29876200	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr22:29873800-29876400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
13	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
14	chr22:29874000-29874800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:29874000-29875200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29874000-29876200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:29874200-29874800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr22:29874200-29874800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr22:29874200-29875000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:29874200-29875200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr22:29874200-29875800	Enhancers	Ovary	ovary
22	chr22:29874200-29876000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:29874200-29876400	Bivalent Enhancer	Fetal Stomach	stomach
24	chr22:29874400-29874800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:29874400-29874800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:29874400-29875400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29874400-29875600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29874400-29877000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr22:29874600-29874800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr22:29874600-29874800	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:29874600-29874800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29874600-29874800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr22:29874600-29874800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr22:29874600-29874800	Weak transcription	Gastric	stomach
37	chr22:29874600-29874800	Enhancers	A549	lung
38	chr22:29874600-29875000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr22:29874600-29875000	Bivalent Enhancer	HSMM	muscle
40	chr22:29874600-29875200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr22:29874600-29875400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr22:29874600-29875800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:29874600-29876000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:29874600-29876400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr22:29874600-29877400	Active TSS	Brain Anterior Caudate	brain
46	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain

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