Variant report

Variant	rs368369827
Chromosome Location	chr4:57774731-57774732
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	E2F6	chr4:57773623-57775591	K562	blood:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
3	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
4	MAX	chr4:57773747-57775766	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:57773738-57775553	NB4	blood:	n/a	n/a
6	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
7	POLR2A	chr4:57774549-57775761	Hela-S3	cervix:	n/a	n/a
8	EP300	chr4:57774292-57775231	K562	blood:	n/a	chr4:57775032-57775039 chr4:57774926-57774942
9	POLR2A	chr4:57773827-57775478	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr4:57774532-57776163	Hela-S3	cervix:	n/a	n/a
11	BCL3	chr4:57774654-57775204	GM12878	blood:	n/a	chr4:57774933-57774946 chr4:57774937-57774950 chr4:57774979-57774992
12	POLR2A	chr4:57774395-57775177	HepG2	liver:	n/a	n/a
13	TAF1	chr4:57774354-57775247	HepG2	liver:	n/a	n/a
14	RCOR1	chr4:57774474-57775981	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:57774393-57775646	GM12878	blood:	n/a	n/a
16	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
17	ETS1	chr4:57773856-57775243	K562	blood:	n/a	chr4:57774805-57774816 chr4:57775031-57775040 chr4:57774735-57774742
18	POLR2A	chr4:57774510-57774992	Hela-S3	cervix:	n/a	n/a
19	REST	chr4:57774213-57775114	MCF-7	breast:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774480-57774493
20	ZBTB7A	chr4:57774236-57775423	K562	blood:	n/a	chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
21	ELK1	chr4:57774604-57775075	GM12878	blood:	n/a	n/a
22	JUND	chr4:57774518-57774960	H1-hESC	embryonic stem cell:	n/a	chr4:57774863-57774873 chr4:57774862-57774874
23	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
24	POLR2A	chr4:57774594-57775237	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr4:57774585-57775788	GM12892	blood:	n/a	n/a
26	MAX	chr4:57774437-57775807	HepG2	liver:	n/a	n/a
27	HA-E2F1	chr4:57773647-57775798	MCF-7	breast:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
28	ETS1	chr4:57774656-57775202	GM12878	blood:	n/a	chr4:57774805-57774816 chr4:57775031-57775040 chr4:57774735-57774742
29	UBTF	chr4:57773999-57775832	K562	blood:	n/a	n/a
30	YY1	chr4:57774665-57775786	GM12892	blood:	n/a	chr4:57774981-57774992
31	FOXP2	chr4:57774619-57775023	PFSK-1	brain:	n/a	n/a
32	BCLAF1	chr4:57774722-57775828	GM12878	blood:	n/a	chr4:57774933-57774946 chr4:57774937-57774950 chr4:57775290-57775298 chr4:57774979-57774992
33	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
34	MAX	chr4:57773756-57775706	NB4	blood:	n/a	n/a
35	CHD2	chr4:57774598-57775544	K562	blood:	n/a	n/a
36	MXI1	chr4:57773345-57776166	IMR90	lung:	n/a	n/a
37	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
38	GABPA	chr4:57774646-57775231	SK-N-SH	brain:	n/a	chr4:57775039-57775048
39	TBP	chr4:57773376-57774951	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:57774720-57774870	GM12874	blood:	n/a	n/a
41	CHD1	chr4:57774719-57776234	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:57773922-57775695	GM19193	blood:	n/a	n/a
43	CTCF	chr4:57774680-57774830	GM12865	blood:	n/a	n/a
44	MTA3	chr4:57774558-57774904	GM12878	blood:	n/a	n/a
45	REST	chr4:57774362-57775209	GM12878	blood:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774480-57774493
46	MXI1	chr4:57773723-57775676	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr4:57774081-57775497	ECC-1	luminal epithelium:	n/a	chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
48	UBTF	chr4:57773819-57776233	K562	blood:	n/a	n/a
49	SMC3	chr4:57774700-57774746	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr4:57774117-57775125	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:57774717-57774767	MCF10A-Er-Src	breast:	n/a
2	chr4:57774717-57774767	HMEC	breast:	n/a
3	chr4:57774717-57774767	SK-N-MC	brain:	n/a
4	chr4:57774717-57774767	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:57774717-57774767	HRCEpiC	kidney:	n/a
6	chr4:57774717-57774767	GM12878	blood:	n/a
7	chr4:57774717-57774767	U87	brain:	n/a
8	chr4:57774717-57774767	PANC-1	pancreas:	n/a
9	chr4:57774717-57774767	GM06990	blood:	n/a
10	chr4:57774717-57774767	AoSMC	blood vessel:	n/a
11	chr4:57774717-57774767	AG04450	lung:	fetal
12	chr4:57774717-57774767	NB4	blood:	n/a
13	chr4:57774717-57774767	GM12891	blood:	n/a
14	chr4:57774717-57774767	Jurkat	blood:	n/a
15	chr4:57774717-57774767	NHBE	bronchial:	n/a
16	chr4:57774717-57774767	HCT-116	colon:	n/a
17	chr4:57774717-57774767	HIPEpiC	eye:	n/a
18	chr4:57774717-57774767	T-47D	breast:	n/a
19	chr4:57774717-57774767	HepG2	liver:	n/a
20	chr4:57774717-57774767	Caco-2	colon:	n/a
21	chr4:57774717-57774767	ProgFib	skin:	n/a
22	chr4:57774717-57774767	HRPEpiC	eye:	n/a
23	chr4:57774717-57774767	HL-60	blood:	n/a
24	chr4:57774717-57774767	PFSK-1	brain:	n/a
25	chr4:57774717-57774767	AG04449	skin:	fetal
26	chr4:57774717-57774767	NH-A	brain:	n/a
27	chr4:57774717-57774767	HUVEC	blood vessel:	n/a
28	chr4:57774717-57774767	HAEpiC	amniotic membrane:	n/a
29	chr4:57774717-57774767	HCM	heart:	n/a
30	chr4:57774717-57774767	K562	blood:	n/a
31	chr4:57774717-57774767	SAEC	small airway:	n/a
32	chr4:57774717-57774767	GM12892	blood:	n/a
33	chr4:57774717-57774767	BE2_C	brain:	n/a
34	chr4:57774717-57774767	HEK293	kidney:	embryo
35	chr4:57774717-57774767	NT2-D1	testis:	n/a
36	chr4:57774717-57774767	RPTEC	kidney:	n/a
37	chr4:57774717-57774767	HEEpiC	esophagus:	n/a
38	chr4:57774717-57774767	SK-N-SH_RA	brain:	n/a
39	chr4:57774717-57774767	PrEC	prostate:	n/a
40	chr4:57774717-57774767	LNCaP	prostate:	n/a
41	chr4:57774717-57774767	MCF-7	breast:	n/a
42	chr4:57774717-57774767	GM19239	blood:	n/a
43	chr4:57774717-57774767	NHDF-neo	bronchial:	n/a
44	chr4:57774717-57774767	Hela-S3	cervix:	n/a
45	chr4:57774717-57774767	HRE	kidney:	n/a
46	chr4:57774717-57774767	ovcar-3	ovarian:	n/a
47	chr4:57774717-57774767	SK-N-SH	brain:	n/a
48	chr4:57774717-57774767	CMK	blood:	n/a
49	chr4:57774717-57774767	AG09309	skin:	n/a
50	chr4:57774717-57774767	HCF	heart:	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
REST	CpG island
ENSG00000084093	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000128050	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	chr4:57773000-57774800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:57773000-57776000	Active TSS	Rectal Smooth Muscle	rectum
4	chr4:57773200-57775600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:57773200-57775800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:57773200-57776000	Active TSS	A549	lung
7	chr4:57773200-57776000	Active TSS	HMEC	breast
8	chr4:57773200-57776200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:57773200-57776200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:57773200-57776400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:57773200-57776600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:57773200-57776600	Active TSS	Aorta	Aorta
13	chr4:57773200-57776800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:57773400-57775600	Active TSS	Fetal Brain Female	brain
15	chr4:57773400-57775800	Active TSS	Esophagus	oesophagus
16	chr4:57773400-57776000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:57773400-57776000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:57773400-57776000	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:57773400-57776200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:57773400-57776200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:57773400-57776200	Active TSS	Brain Anterior Caudate	brain
22	chr4:57773400-57776200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:57773400-57776200	Active TSS	Ovary	ovary
24	chr4:57773400-57776600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:57773400-57776800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:57773400-57776800	Active TSS	Psoas Muscle	Psoas
27	chr4:57773600-57775200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr4:57773600-57775200	Active TSS	HepG2	liver
29	chr4:57773600-57775400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:57773600-57775400	Active TSS	Adipose Nuclei	Adipose
31	chr4:57773600-57775400	Active TSS	Placenta	Placenta
32	chr4:57773600-57775600	Active TSS	Primary T cells from cord blood	blood
33	chr4:57773600-57775600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:57773600-57775800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:57773600-57775800	Active TSS	Brain Angular Gyrus	brain
36	chr4:57773600-57775800	Active TSS	Brain Cingulate Gyrus	brain
37	chr4:57773600-57775800	Active TSS	Brain Hippocampus Middle	brain
38	chr4:57773600-57775800	Active TSS	Gastric	stomach
39	chr4:57773600-57775800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:57773600-57775800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr4:57773600-57776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr4:57773600-57776000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:57773600-57776000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:57773600-57776000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr4:57773600-57776000	Active TSS	Fetal Lung	lung
46	chr4:57773600-57776000	Active TSS	Left Ventricle	heart
47	chr4:57773600-57776000	Active TSS	Pancreas	Pancrea
48	chr4:57773600-57776000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:57773600-57776200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:57773600-57776200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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