Variant report

Variant	rs576369395
Chromosome Location	chr7:138144771-138144772
allele	C/G
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	POLR2A	chr7:138144331-138146101	NB4	blood:	n/a	n/a
2	CREB1	chr7:138144591-138145521	A549	lung:	n/a	n/a
3	ELF1	chr7:138144506-138145257	MCF-7	breast:	n/a	chr7:138145175-138145184 chr7:138145241-138145253 chr7:138144813-138144825
4	POLR2A	chr7:138144413-138146312	GM18526	blood:	n/a	n/a
5	HMGN3	chr7:138144544-138146210	K562	blood:	n/a	n/a
6	ELF1	chr7:138144474-138144909	K562	blood:	n/a	chr7:138144813-138144825
7	POLR2A	chr7:138144355-138146139	GM19099	blood:	n/a	n/a
8	FOXA2	chr7:138144392-138144795	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:138144281-138144832	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr7:138144317-138146262	GM12878	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
11	RUNX3	chr7:138144233-138146264	GM12878	blood:	n/a	n/a
12	PBX3	chr7:138144324-138145507	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:138144385-138146026	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr7:138144379-138144796	SK-N-SH_RA	brain:	n/a	n/a
15	SP2	chr7:138144498-138144921	HepG2	liver:	n/a	chr7:138144771-138144786 chr7:138144793-138144808
16	POLR2A	chr7:138143131-138146474	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr7:138144538-138145878	H1-hESC	embryonic stem cell:	n/a	n/a
18	HA-E2F1	chr7:138144505-138146180	MCF-7	breast:	n/a	chr7:138145240-138145249 chr7:138145271-138145281 chr7:138144776-138144785 chr7:138145708-138145722 chr7:138145705-138145714 chr7:138144885-138144894
19	MAZ	chr7:138144441-138145269	HepG2	liver:	n/a	chr7:138144774-138144784 chr7:138144854-138144864
20	TAF1	chr7:138144523-138144827	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:138144334-138146247	K562	blood:	n/a	n/a
22	CBX3	chr7:138144377-138144806	K562	blood:	n/a	n/a
23	MAX	chr7:138144405-138146089	NB4	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
24	TAF1	chr7:138144660-138146016	HepG2	liver:	n/a	n/a
25	EP300	chr7:138144442-138145302	SK-N-SH_RA	brain:	n/a	chr7:138145237-138145246 chr7:138145272-138145281 chr7:138144502-138144512
26	ZNF143	chr7:138144408-138145152	K562	blood:	n/a	n/a
27	MXI1	chr7:138144387-138146323	GM12878	blood:	n/a	n/a
28	SP1	chr7:138144451-138145287	HepG2	liver:	n/a	chr7:138144640-138144652 chr7:138145214-138145228 chr7:138144775-138144787 chr7:138144776-138144786 chr7:138144853-138144862 chr7:138144852-138144861 chr7:138144775-138144787 chr7:138144776-138144785 chr7:138144776-138144786 chr7:138144851-138144863 chr7:138144640-138144652 chr7:138144740-138144761 chr7:138144852-138144866 chr7:138144641-138144655 chr7:138144775-138144786 chr7:138144641-138144650 chr7:138144772-138144786 chr7:138144777-138144786 chr7:138144851-138144863 chr7:138144777-138144786 chr7:138144642-138144651
29	FOXA1	chr7:138144208-138144853	HepG2	liver:	n/a	n/a
30	HA-E2F1	chr7:138144678-138146047	Hela-S3	cervix:	n/a	chr7:138145240-138145249 chr7:138145271-138145281 chr7:138144776-138144785 chr7:138145708-138145722 chr7:138145705-138145714 chr7:138144885-138144894
31	RAD21	chr7:138144399-138144863	H1-hESC	embryonic stem cell:	n/a	n/a
32	POU2F2	chr7:138144494-138144804	GM12891	blood:	n/a	chr7:138144608-138144623 chr7:138144773-138144785
33	TBP	chr7:138144412-138145336	HepG2	liver:	n/a	n/a
34	STAT3	chr7:138144497-138144878	MCF10A-Er-Src	breast:	n/a	chr7:138144778-138144790 chr7:138144595-138144606
35	EGR1	chr7:138144713-138145354	GM12878	blood:	n/a	chr7:138144853-138144868 chr7:138144776-138144786 chr7:138145232-138145245 chr7:138144771-138144784 chr7:138144854-138144867 chr7:138144854-138144867 chr7:138144773-138144783
36	MXI1	chr7:138144663-138145272	K562	blood:	n/a	n/a
37	E2F6	chr7:138144710-138146069	K562	blood:	n/a	chr7:138145240-138145249 chr7:138145271-138145281 chr7:138144776-138144785 chr7:138145708-138145722 chr7:138145705-138145714 chr7:138144885-138144894
38	NR2F2	chr7:138144276-138145399	K562	blood:	n/a	n/a
39	ZBTB33	chr7:138144602-138144932	GM12878	blood:	n/a	n/a
40	NANOG	chr7:138144570-138144853	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr7:138144680-138144912	MCF10A-Er-Src	breast:	n/a	chr7:138144774-138144784 chr7:138144854-138144864
42	MAZ	chr7:138144458-138146322	K562	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
43	POLR2A	chr7:138144372-138146284	HepG2	liver:	n/a	n/a
44	TBL1XR1	chr7:138144447-138144838	K562	blood:	n/a	n/a
45	CHD2	chr7:138144404-138146252	Hela-S3	cervix:	n/a	chr7:138145774-138145784
46	ELF1	chr7:138144574-138146032	K562	blood:	n/a	chr7:138145270-138145279 chr7:138145175-138145184 chr7:138145241-138145253 chr7:138144813-138144825
47	POLR2A	chr7:138144395-138146075	GM18951	blood:	n/a	n/a
48	BRCA1	chr7:138144633-138145017	GM12878	blood:	n/a	n/a
49	SP1	chr7:138144395-138145418	K562	blood:	n/a	chr7:138144640-138144652 chr7:138145214-138145228 chr7:138144775-138144787 chr7:138144776-138144786 chr7:138144853-138144862 chr7:138144852-138144861 chr7:138144775-138144787 chr7:138144776-138144785 chr7:138144776-138144786 chr7:138144851-138144863 chr7:138144640-138144652 chr7:138144740-138144761 chr7:138144852-138144866 chr7:138144641-138144655 chr7:138144775-138144786 chr7:138144641-138144650 chr7:138144772-138144786 chr7:138144777-138144786 chr7:138144851-138144863 chr7:138144777-138144786 chr7:138144642-138144651
50	SIN3A	chr7:138144357-138147076	H1-hESC	embryonic stem cell:	n/a	chr7:138145170-138145179

No.	Distal block	Cell Line	Cell type
1	chr13:113862501..113863112-chr7:138144535..138145370,2	Hela-S3	cervix:
2	chr1:11967906..11968470-chr7:138144770..138145628,2	Hela-S3	cervix:
3	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
4	chr1:117664016..117664630-chr7:138144657..138145587,2	Hela-S3	cervix:
5	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:
6	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
7	chr7:137684812..137687576-chr7:138144415..138146987,3	K562	blood:
8	chr7:137774765..137777637-chr7:138144590..138146200,2	MCF-7	breast:

Variant related genes	Relation type
TRIM24	TF binding region
ENSG00000139842	Chromatin interaction
ENSG00000222514	Chromatin interaction
ENSG00000214815	Chromatin interaction
ENSG00000182158	Chromatin interaction
ENSG00000134253	Chromatin interaction
ENSG00000126226	Chromatin interaction
ENSG00000157703	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000122787	Chromatin interaction
ENSG00000239123	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3329035	chr7:138144237-138146785	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138141400-138145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:138143800-138146400	Active TSS	NH-A	brain
11	chr7:138143800-138147000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:138143800-138147400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:138144000-138145600	Active TSS	Primary B cells from cord blood	blood
15	chr7:138144000-138146400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:138144000-138146400	Active TSS	Brain Anterior Caudate	brain
17	chr7:138144000-138146400	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:138144000-138147400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:138144200-138145400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:138144200-138146000	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:138144200-138146000	Active TSS	Primary B cells from peripheral blood	blood
22	chr7:138144200-138146000	Active TSS	Primary T cells fromperipheralblood	blood
23	chr7:138144200-138146000	Active TSS	Primary hematopoietic stem cells	blood
24	chr7:138144200-138146000	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr7:138144200-138146000	Active TSS	Adipose Nuclei	Adipose
26	chr7:138144200-138146000	Active TSS	Brain Angular Gyrus	brain
27	chr7:138144200-138146200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:138144200-138146200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:138144200-138146200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:138144200-138146200	Active TSS	Liver	Liver
31	chr7:138144200-138146200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:138144200-138146200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:138144200-138146200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:138144200-138146200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:138144200-138146200	Active TSS	Stomach Smooth Muscle	stomach
36	chr7:138144200-138146200	Active TSS	HMEC	breast
37	chr7:138144200-138146400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:138144200-138146400	Active TSS	Fetal Lung	lung
39	chr7:138144200-138146600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:138144200-138146600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:138144200-138146600	Active TSS	Brain Hippocampus Middle	brain
44	chr7:138144200-138146600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:138144200-138146600	Active TSS	Fetal Muscle Leg	muscle
46	chr7:138144200-138146600	Active TSS	Fetal Thymus	thymus
47	chr7:138144200-138146600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:138144200-138146600	Active TSS	HUVEC	blood vessel
49	chr7:138144200-138146600	Active TSS	K562	blood
50	chr7:138144200-138146600	Active TSS	NHEK	skin

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