Variant report

Variant	rs529266833
Chromosome Location	chr4:569143-569144
allele	A/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	MAX	chr4:569061-569321	SK-N-SH	brain:	n/a	n/a
2	REST	chr4:569133-569303	PANC-1	pancreas:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
3	CTCF	chr4:569120-569270	HCPEpiC	choroid plexus:	n/a	chr4:569137-569150
4	REST	chr4:569103-569317	GM12878	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
5	REST	chr4:569052-569595	H1-hESC	embryonic stem cell:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
6	RAD21	chr4:569045-569437	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr4:569133-569295	HepG2	liver:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
8	REST	chr4:569063-569339	GM12878	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
9	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
10	REST	chr4:569040-569611	H1-hESC	embryonic stem cell:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
11	MAX	chr4:569042-569452	ECC-1	luminal epithelium:	n/a	n/a
12	REST	chr4:569059-569366	U87	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
13	REST	chr4:568826-569986	ECC-1	luminal epithelium:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
14	REST	chr4:569074-569287	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
15	REST	chr4:569033-569836	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
16	POLR2A	chr4:569134-569306	HUVEC	blood vessel:	n/a	n/a
17	REST	chr4:569093-569317	GM12878	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
18	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a
19	REST	chr4:569109-569303	MCF-7	breast:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
20	TBP	chr4:569098-569327	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr4:568516-569842	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:568592-568605 chr4:569728-569741 chr4:569246-569259 chr4:568580-568593 chr4:569243-569256 chr4:569731-569744
22	MAX	chr4:569031-569384	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr4:569133-569291	HepG2	liver:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
24	MXI1	chr4:569053-569451	IMR90	lung:	n/a	n/a
25	REST	chr4:569052-569355	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
26	MAX	chr4:568478-569455	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
27	POLR2A	chr4:568722-570035	H1-neurons	neurons:	n/a	n/a
28	SIN3A	chr4:569017-569442	H1-hESC	embryonic stem cell:	n/a	chr4:569248-569262 chr4:569247-569257 chr4:569243-569256
29	SIN3AK20	chr4:569061-569332	PFSK-1	brain:	n/a	n/a
30	REST	chr4:568930-569483	HL-60	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
31	REST	chr4:569086-569308	K562	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
32	REST	chr4:569055-569457	ECC-1	luminal epithelium:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
33	MXI1	chr4:569095-569346	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr4:568696-569858	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
35	SIN3AK20	chr4:569058-569371	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr4:569032-569878	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
37	REST	chr4:568983-572510	H1-neurons	neurons:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:570373-570386 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:570404-570417 chr4:571320-571333 chr4:570810-570820 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:571381-571394 chr4:569243-569263 chr4:570817-570830 chr4:569248-569257 chr4:569249-569263 chr4:571378-571391 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
38	REST	chr4:569121-569335	K562	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
39	REST	chr4:568964-569466	HL-60	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
40	ZNF143	chr4:569072-569410	H1-hESC	embryonic stem cell:	n/a	chr4:569121-569130 chr4:569371-569381
41	MAZ	chr4:569071-569497	IMR90	lung:	n/a	n/a
42	REST	chr4:569093-569415	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
43	SUZ12	chr4:568770-569545	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr4:569027-569418	ECC-1	luminal epithelium:	n/a	n/a
45	REST	chr4:569076-569364	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273238	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
11	esv1796312	chr4:560701-569738	Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3420187	chr4:567777-570825	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv3436442	chr4:568052-571400	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	esv3358052	chr4:568427-571250	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	esv1803993	chr4:568928-570224	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv1834259	chr4:568928-570224	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv1840600	chr4:568928-570224	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv1815184	chr4:568928-575087	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
19	esv1816544	chr4:568928-575087	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
20	esv11465	chr4:568952-570319	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv3371433	chr4:568977-571525	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
2	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
7	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
8	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
11	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr4:568600-569400	Bivalent Enhancer	Left Ventricle	heart
13	chr4:568600-569600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr4:568600-569600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:568600-569600	Bivalent Enhancer	Lung	lung
16	chr4:568600-569800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:568600-569800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:568600-569800	Enhancers	Gastric	stomach
19	chr4:568600-570800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr4:568600-571200	Enhancers	Pancreas	Pancrea
21	chr4:568600-571400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr4:568600-571800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:568600-571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:568800-569400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:568800-569400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:568800-569800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:568800-570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:568800-570400	Active TSS	Fetal Brain Female	brain
29	chr4:568800-571200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:568800-571600	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:568800-572000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr4:569000-569200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:569000-569200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:569000-569200	Flanking Active TSS	Psoas Muscle	Psoas
35	chr4:569000-569400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:569000-569400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:569000-569400	Bivalent/Poised TSS	Right Ventricle	heart
38	chr4:569000-569600	Flanking Bivalent TSS/Enh	Ovary	ovary
39	chr4:569000-569800	Active TSS	Stomach Smooth Muscle	stomach
40	chr4:569000-570000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:569000-570200	Active TSS	Right Atrium	heart
42	chr4:569000-570800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr4:569000-571000	Bivalent Enhancer	HMEC	breast

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