Variant report

Variant	rs530575506
Chromosome Location	chr4:57774143-57774144
allele	A/C
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	TEAD4	chr4:57773835-57774394	ECC-1	luminal epithelium:	n/a	chr4:57774088-57774097
2	E2F6	chr4:57773623-57775591	K562	blood:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
3	POLR2A	chr4:57774059-57774288	A549	lung:	n/a	n/a
4	ELF1	chr4:57773942-57774258	K562	blood:	n/a	n/a
5	MAX	chr4:57773747-57775766	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:57773738-57775553	NB4	blood:	n/a	n/a
7	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
8	POLR2A	chr4:57773827-57775478	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr4:57774074-57774351	GM12878	blood:	n/a	chr4:57774097-57774113
10	TEAD4	chr4:57773888-57774338	ECC-1	luminal epithelium:	n/a	chr4:57774088-57774097
11	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
12	PML	chr4:57773881-57774276	MCF-7	breast:	n/a	n/a
13	ETS1	chr4:57773856-57775243	K562	blood:	n/a	chr4:57774805-57774816 chr4:57775031-57775040 chr4:57774735-57774742
14	POLR2A	chr4:57773716-57774376	ECC-1	luminal epithelium:	n/a	n/a
15	PAX5	chr4:57773781-57774262	GM12892	blood:	n/a	n/a
16	SIN3AK20	chr4:57773850-57774196	K562	blood:	n/a	n/a
17	POLR2A	chr4:57773691-57774315	MCF10A-Er-Src	breast:	n/a	n/a
18	YY1	chr4:57773977-57774423	GM12878	blood:	n/a	chr4:57774127-57774141 chr4:57774164-57774178 chr4:57774174-57774185 chr4:57774168-57774182 chr4:57774097-57774108
19	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
20	HA-E2F1	chr4:57773647-57775798	MCF-7	breast:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
21	UBTF	chr4:57773999-57775832	K562	blood:	n/a	n/a
22	RCOR1	chr4:57773854-57774267	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:57773876-57774372	Gliobla	brain:	n/a	n/a
24	SIN3AK20	chr4:57773768-57774314	K562	blood:	n/a	n/a
25	MAX	chr4:57773756-57775706	NB4	blood:	n/a	n/a
26	MXI1	chr4:57773345-57776166	IMR90	lung:	n/a	n/a
27	FOXM1	chr4:57774066-57774451	GM12878	blood:	n/a	n/a
28	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
29	TBP	chr4:57773376-57774951	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr4:57773968-57774319	K562	blood:	n/a	chr4:57774127-57774141 chr4:57774164-57774178 chr4:57774174-57774185 chr4:57774168-57774182 chr4:57774097-57774108
31	POLR2A	chr4:57773922-57775695	GM19193	blood:	n/a	n/a
32	POLR2A	chr4:57773967-57774249	A549	lung:	n/a	n/a
33	POLR2A	chr4:57774000-57774244	SK-N-SH	brain:	n/a	n/a
34	IRF1	chr4:57774095-57774199	K562	blood:	n/a	n/a
35	POLR2A	chr4:57773726-57774251	U87	brain:	n/a	n/a
36	MXI1	chr4:57773723-57775676	HepG2	liver:	n/a	n/a
37	MXI1	chr4:57774067-57774269	Hela-S3	cervix:	n/a	n/a
38	ZBTB7A	chr4:57774081-57775497	ECC-1	luminal epithelium:	n/a	chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
39	UBTF	chr4:57773819-57776233	K562	blood:	n/a	n/a
40	SIN3AK20	chr4:57774117-57775125	SK-N-SH	brain:	n/a	n/a
41	RFX5	chr4:57774128-57774249	HepG2	liver:	n/a	n/a
42	TEAD4	chr4:57773105-57774259	H1-hESC	embryonic stem cell:	n/a	chr4:57774088-57774097
43	MAX	chr4:57773763-57775621	K562	blood:	n/a	n/a
44	RCOR1	chr4:57773946-57775442	K562	blood:	n/a	n/a
45	REST	chr4:57774037-57775081	H1-hESC	embryonic stem cell:	n/a	chr4:57774480-57774489 chr4:57774581-57774591 chr4:57774720-57774734 chr4:57774122-57774135 chr4:57774480-57774493 chr4:57774118-57774138
46	TAF1	chr4:57773918-57774262	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:57774010-57774222	A549	lung:	n/a	n/a
48	POLR2A	chr4:57773949-57774318	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr4:57774091-57775349	K562	blood:	n/a	chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
50	E2F6	chr4:57774049-57774167	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57773933..57775544-chr4:57843880..57845543,2	MCF-7	breast:
2	chr4:57773986..57774521-chr9:139685816..139686316,2	Hela-S3	cervix:
3	chr4:57772988..57775343-chr4:57776220..57778579,3	MCF-7	breast:
4	chr19:1248083..1248884-chr4:57773766..57774545,2	Hela-S3	cervix:
5	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
6	chr4:57301355..57303854-chr4:57773620..57776020,4	MCF-7	breast:
7	chr4:57302175..57303989-chr4:57773484..57775623,2	MCF-7	breast:
8	chr4:57771688..57776264-chr4:57841866..57845328,7	MCF-7	breast:
9	chr4:57299951..57301849-chr4:57773604..57776000,3	K562	blood:
10	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

Variant related genes	Relation type
REST	TF binding region
ENSG00000084093	Chromatin interaction
ENSG00000272896	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000244187	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000084092	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	chr4:57773200-57774600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:57773200-57775600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr4:57773200-57775800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:57773200-57776000	Active TSS	A549	lung
8	chr4:57773200-57776000	Active TSS	HMEC	breast
9	chr4:57773200-57776200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:57773200-57776200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:57773200-57776400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:57773200-57776600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:57773200-57776600	Active TSS	Aorta	Aorta
14	chr4:57773200-57776800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:57773400-57774200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:57773400-57775600	Active TSS	Fetal Brain Female	brain
17	chr4:57773400-57775800	Active TSS	Esophagus	oesophagus
18	chr4:57773400-57776000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:57773400-57776000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:57773400-57776000	Active TSS	Duodenum Mucosa	Duodenum
21	chr4:57773400-57776200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:57773400-57776200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:57773400-57776200	Active TSS	Brain Anterior Caudate	brain
24	chr4:57773400-57776200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:57773400-57776200	Active TSS	Ovary	ovary
26	chr4:57773400-57776600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:57773400-57776800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:57773400-57776800	Active TSS	Psoas Muscle	Psoas
29	chr4:57773600-57774200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:57773600-57774200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:57773600-57774600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:57773600-57775200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr4:57773600-57775200	Active TSS	HepG2	liver
34	chr4:57773600-57775400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:57773600-57775400	Active TSS	Adipose Nuclei	Adipose
36	chr4:57773600-57775400	Active TSS	Placenta	Placenta
37	chr4:57773600-57775600	Active TSS	Primary T cells from cord blood	blood
38	chr4:57773600-57775600	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr4:57773600-57775800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:57773600-57775800	Active TSS	Brain Angular Gyrus	brain
41	chr4:57773600-57775800	Active TSS	Brain Cingulate Gyrus	brain
42	chr4:57773600-57775800	Active TSS	Brain Hippocampus Middle	brain
43	chr4:57773600-57775800	Active TSS	Gastric	stomach
44	chr4:57773600-57775800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr4:57773600-57775800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr4:57773600-57776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:57773600-57776000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:57773600-57776000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:57773600-57776000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr4:57773600-57776000	Active TSS	Fetal Lung	lung

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