Variant report

Variant	rs566150835
Chromosome Location	chr4:569332-569333
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	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
2	RAD21	chr4:569045-569437	ECC-1	luminal epithelium:	n/a	n/a
3	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
4	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
5	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
6	MAX	chr4:569042-569452	ECC-1	luminal epithelium:	n/a	n/a
7	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
8	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
9	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
10	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a
11	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
12	MAX	chr4:569031-569384	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr4:569053-569451	IMR90	lung:	n/a	n/a
14	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
15	MAX	chr4:568478-569455	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
16	POLR2A	chr4:568722-570035	H1-neurons	neurons:	n/a	n/a
17	SIN3A	chr4:569017-569442	H1-hESC	embryonic stem cell:	n/a	chr4:569248-569262 chr4:569247-569257 chr4:569243-569256
18	SIN3AK20	chr4:569061-569332	PFSK-1	brain:	n/a	n/a
19	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
20	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
21	MXI1	chr4:569095-569346	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	SIN3AK20	chr4:569058-569371	H1-hESC	embryonic stem cell:	n/a	n/a
24	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
25	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
26	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
27	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
28	ZNF143	chr4:569072-569410	H1-hESC	embryonic stem cell:	n/a	chr4:569121-569130 chr4:569371-569381
29	MAZ	chr4:569071-569497	IMR90	lung:	n/a	n/a
30	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
31	SUZ12	chr4:568770-569545	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr4:569194-569394	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr4:569027-569418	ECC-1	luminal epithelium:	n/a	n/a
34	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:45 , 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	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
5	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
6	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
9	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:568600-569400	Bivalent Enhancer	Left Ventricle	heart
11	chr4:568600-569600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr4:568600-569600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:568600-569600	Bivalent Enhancer	Lung	lung
14	chr4:568600-569800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:568600-569800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:568600-569800	Enhancers	Gastric	stomach
17	chr4:568600-570800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr4:568600-571200	Enhancers	Pancreas	Pancrea
19	chr4:568600-571400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:568600-571800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:568600-571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:568800-569400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:568800-569400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:568800-569800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:568800-570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:568800-570400	Active TSS	Fetal Brain Female	brain
27	chr4:568800-571200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr4:568800-571600	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:568800-572000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr4:569000-569400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:569000-569400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:569000-569400	Bivalent/Poised TSS	Right Ventricle	heart
33	chr4:569000-569600	Flanking Bivalent TSS/Enh	Ovary	ovary
34	chr4:569000-569800	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:569000-570000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:569000-570200	Active TSS	Right Atrium	heart
37	chr4:569000-570800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr4:569000-571000	Bivalent Enhancer	HMEC	breast
39	chr4:569200-569400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:569200-569400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:569200-569800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:569200-569800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:569200-570200	Active TSS	Psoas Muscle	Psoas
44	chr4:569200-570200	Bivalent/Poised TSS	Thymus	Thymus
45	chr4:569200-570400	Enhancers	Primary T helper cells fromperipheralblood	blood

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