Variant report

Variant	rs550517519
Chromosome Location	chr4:57774856-57774857
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	ELF1	chr4:57774309-57775250	K562	blood:	n/a	chr4:57775032-57775041 chr4:57774652-57774661 chr4:57775031-57775042 chr4:57774439-57774451
2	POLR2A	chr4:57774832-57775766	GM12878	blood:	n/a	n/a
3	E2F6	chr4:57773623-57775591	K562	blood:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
4	EGR1	chr4:57774207-57775323	K562	blood:	n/a	chr4:57775043-57775052 chr4:57774279-57774292 chr4:57775246-57775259 chr4:57775040-57775053 chr4:57774647-57774661 chr4:57774454-57774464 chr4:57775036-57775058 chr4:57775040-57775053 chr4:57775041-57775055
5	CTCF	chr4:57774800-57774950	HepG2	liver:	n/a	n/a
6	MAX	chr4:57773747-57775766	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:57773738-57775553	NB4	blood:	n/a	n/a
8	REST	chr4:57774088-57775131	GM12878	blood:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774122-57774135 chr4:57774480-57774493 chr4:57774118-57774138
9	POLR2A	chr4:57774549-57775761	Hela-S3	cervix:	n/a	n/a
10	EP300	chr4:57774292-57775231	K562	blood:	n/a	chr4:57775032-57775039 chr4:57774926-57774942
11	CTCF	chr4:57774760-57774910	GM12866	blood:	n/a	n/a
12	POLR2A	chr4:57773827-57775478	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr4:57774532-57776163	Hela-S3	cervix:	n/a	n/a
14	BCL3	chr4:57774654-57775204	GM12878	blood:	n/a	chr4:57774933-57774946 chr4:57774937-57774950 chr4:57774979-57774992
15	POLR2A	chr4:57774395-57775177	HepG2	liver:	n/a	n/a
16	TAF1	chr4:57774354-57775247	HepG2	liver:	n/a	n/a
17	RCOR1	chr4:57774474-57775981	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:57774393-57775646	GM12878	blood:	n/a	n/a
19	REST	chr4:57773926-57775638	MCF-7	breast:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774122-57774135 chr4:57774480-57774493 chr4:57774118-57774138
20	ETS1	chr4:57773856-57775243	K562	blood:	n/a	chr4:57774805-57774816 chr4:57775031-57775040 chr4:57774735-57774742
21	HDAC2	chr4:57774771-57775195	K562	blood:	n/a	n/a
22	POLR2A	chr4:57774510-57774992	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr4:57774760-57774910	AG04450	lung:	n/a	n/a
24	REST	chr4:57774213-57775114	MCF-7	breast:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774480-57774493
25	CEBPB	chr4:57774741-57774941	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr4:57774236-57775423	K562	blood:	n/a	chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
27	ELK1	chr4:57774604-57775075	GM12878	blood:	n/a	n/a
28	JUND	chr4:57774518-57774960	H1-hESC	embryonic stem cell:	n/a	chr4:57774863-57774873 chr4:57774862-57774874
29	REST	chr4:57774067-57775081	Hela-S3	cervix:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774122-57774135 chr4:57774480-57774493 chr4:57774118-57774138
30	POLR2A	chr4:57774594-57775237	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr4:57774585-57775788	GM12892	blood:	n/a	n/a
32	MAX	chr4:57774437-57775807	HepG2	liver:	n/a	n/a
33	HA-E2F1	chr4:57773647-57775798	MCF-7	breast:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
34	ETS1	chr4:57774656-57775202	GM12878	blood:	n/a	chr4:57774805-57774816 chr4:57775031-57775040 chr4:57774735-57774742
35	UBTF	chr4:57773999-57775832	K562	blood:	n/a	n/a
36	YY1	chr4:57774665-57775786	GM12892	blood:	n/a	chr4:57774981-57774992
37	FOXP2	chr4:57774619-57775023	PFSK-1	brain:	n/a	n/a
38	BCLAF1	chr4:57774722-57775828	GM12878	blood:	n/a	chr4:57774933-57774946 chr4:57774937-57774950 chr4:57775290-57775298 chr4:57774979-57774992
39	EGR1	chr4:57774391-57775290	K562	blood:	n/a	chr4:57775043-57775052 chr4:57775246-57775259 chr4:57775040-57775053 chr4:57774647-57774661 chr4:57774454-57774464 chr4:57775036-57775058 chr4:57775040-57775053 chr4:57775041-57775055
40	MAX	chr4:57773756-57775706	NB4	blood:	n/a	n/a
41	E2F6	chr4:57774856-57775208	K562	blood:	n/a	n/a
42	CHD2	chr4:57774598-57775544	K562	blood:	n/a	n/a
43	MXI1	chr4:57773345-57776166	IMR90	lung:	n/a	n/a
44	CTCF	chr4:57774773-57775319	K562	blood:	n/a	n/a
45	REST	chr4:57774025-57775168	PANC-1	pancreas:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774122-57774135 chr4:57774480-57774493 chr4:57774118-57774138
46	GABPA	chr4:57774646-57775231	SK-N-SH	brain:	n/a	chr4:57775039-57775048
47	TBP	chr4:57773376-57774951	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF384	chr4:57774836-57774971	K562	blood:	n/a	n/a
49	CTCF	chr4:57774720-57774870	GM12874	blood:	n/a	n/a
50	POLR2A	chr4:57774813-57774992	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57773933..57775544-chr4:57843880..57845543,2	MCF-7	breast:
2	chr4:57772988..57775343-chr4:57776220..57778579,3	MCF-7	breast:
3	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
4	chr4:57301355..57303854-chr4:57773620..57776020,4	MCF-7	breast:
5	chr4:57302175..57303989-chr4:57773484..57775623,2	MCF-7	breast:
6	chr4:57771688..57776264-chr4:57841866..57845328,7	MCF-7	breast:
7	chr4:57774412..57776864-chr4:57776976..57782053,6	K562	blood:
8	chr4:57299951..57301849-chr4:57773604..57776000,3	K562	blood:
9	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

Variant related genes	Relation type
REST	TF binding region
ENSG00000084093	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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 target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv12676	chr4:57772270-57775584	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3374947	chr4:57773220-57776168	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3389347	chr4:57773345-57775893	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv594205	chr4:57773442-57775064	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv594206	chr4:57773595-57775543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57772800-57776200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:57773000-57776000	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:57773200-57775600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:57773200-57775800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:57773200-57776000	Active TSS	A549	lung
6	chr4:57773200-57776000	Active TSS	HMEC	breast
7	chr4:57773200-57776200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57773200-57776200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:57773200-57776400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:57773200-57776600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:57773200-57776600	Active TSS	Aorta	Aorta
12	chr4:57773200-57776800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:57773400-57775600	Active TSS	Fetal Brain Female	brain
14	chr4:57773400-57775800	Active TSS	Esophagus	oesophagus
15	chr4:57773400-57776000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:57773400-57776000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:57773400-57776000	Active TSS	Duodenum Mucosa	Duodenum
18	chr4:57773400-57776200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:57773400-57776200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:57773400-57776200	Active TSS	Brain Anterior Caudate	brain
21	chr4:57773400-57776200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:57773400-57776200	Active TSS	Ovary	ovary
23	chr4:57773400-57776600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:57773400-57776800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:57773400-57776800	Active TSS	Psoas Muscle	Psoas
26	chr4:57773600-57775200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr4:57773600-57775200	Active TSS	HepG2	liver
28	chr4:57773600-57775400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:57773600-57775400	Active TSS	Adipose Nuclei	Adipose
30	chr4:57773600-57775400	Active TSS	Placenta	Placenta
31	chr4:57773600-57775600	Active TSS	Primary T cells from cord blood	blood
32	chr4:57773600-57775600	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr4:57773600-57775800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:57773600-57775800	Active TSS	Brain Angular Gyrus	brain
35	chr4:57773600-57775800	Active TSS	Brain Cingulate Gyrus	brain
36	chr4:57773600-57775800	Active TSS	Brain Hippocampus Middle	brain
37	chr4:57773600-57775800	Active TSS	Gastric	stomach
38	chr4:57773600-57775800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr4:57773600-57775800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr4:57773600-57776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:57773600-57776000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:57773600-57776000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:57773600-57776000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr4:57773600-57776000	Active TSS	Fetal Lung	lung
45	chr4:57773600-57776000	Active TSS	Left Ventricle	heart
46	chr4:57773600-57776000	Active TSS	Pancreas	Pancrea
47	chr4:57773600-57776000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr4:57773600-57776200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:57773600-57776200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:57773600-57776200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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