Variant report

Variant	rs187742325
Chromosome Location	chr4:8581951-8581952
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	chr4:8581912-8582992	MCF-7	breast:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
2	TCF12	chr4:8581873-8582565	ECC-1	luminal epithelium:	n/a	n/a
3	REST	chr4:8581786-8582882	SK-N-SH	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
4	MAX	chr4:8581921-8583042	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr4:8581862-8583073	H1-hESC	embryonic stem cell:	n/a	chr4:8582447-8582457 chr4:8582442-8582456 chr4:8582448-8582461 chr4:8582619-8582630
6	REST	chr4:8581888-8583089	ECC-1	luminal epithelium:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
7	REST	chr4:8581681-8583317	PFSK-1	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8581723-8581743 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
8	SIN3AK20	chr4:8581947-8582793	MCF-7	breast:	n/a	n/a
9	CREB1	chr4:8581868-8583002	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr4:8581907-8583150	MCF-7	breast:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
11	REST	chr4:8581839-8582928	K562	blood:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
12	REST	chr4:8581899-8583174	HL-60	blood:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
13	REST	chr4:8581856-8583317	ECC-1	luminal epithelium:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
14	MAX	chr4:8581906-8583031	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr4:8581823-8582048	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr4:8581805-8583645	PFSK-1	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
17	MAX	chr4:8581889-8582688	MCF-7	breast:	n/a	n/a
18	REST	chr4:8581902-8583128	A549	lung:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
19	REST	chr4:8581909-8582843	HCT-116	colon:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465

Variant related genes	Relation type
GPR78	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv878613	chr4:8554894-8618916	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv3487948	chr4:8581052-8584350	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv3487949	chr4:8581052-8584350	Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8574400-8582400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:8577600-8582000	Weak transcription	Ovary	ovary
4	chr4:8578600-8582200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:8580800-8582200	Enhancers	Placenta	Placenta
6	chr4:8581200-8582200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:8581400-8582000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8581400-8582200	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr4:8581400-8582800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8581400-8583000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr4:8581600-8582000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr4:8581600-8582000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr4:8581600-8582200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:8581600-8582400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr4:8581600-8582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:8581600-8582800	Enhancers	Esophagus	oesophagus
17	chr4:8581600-8583200	Enhancers	Pancreas	Pancrea
18	chr4:8581800-8582000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:8581800-8582000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr4:8581800-8582600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr4:8581800-8582600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:8581800-8582600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:8581800-8582800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr4:8581800-8583000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr4:8581800-8583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:8581800-8583200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:8581800-8583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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