Variant report

Variant	rs538292438
Chromosome Location	chr7:138144453-138144454
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	POLR2A	chr7:138144331-138146101	NB4	blood:	n/a	n/a
2	CTCF	chr7:138144400-138144550	HCT-116	colon:	n/a	n/a
3	POLR2A	chr7:138144413-138146312	GM18526	blood:	n/a	n/a
4	CTCF	chr7:138144320-138144470	NHDF-neo	bronchial:	n/a	n/a
5	POLR2A	chr7:138144355-138146139	GM19099	blood:	n/a	n/a
6	FOXA2	chr7:138144392-138144795	HepG2	liver:	n/a	n/a
7	CTCF	chr7:138144440-138144590	AG10803	skin:	n/a	n/a
8	POLR2A	chr7:138144281-138144832	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:138144400-138144550	GM12873	blood:	n/a	n/a
10	MAZ	chr7:138144317-138146262	GM12878	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
11	CTCF	chr7:138144420-138144570	HFF	foreskin:	n/a	n/a
12	CTCF	chr7:138144437-138144693	HepG2	liver:	n/a	n/a
13	SMC3	chr7:138144221-138144664	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:138144233-138146264	GM12878	blood:	n/a	n/a
15	PBX3	chr7:138144324-138145507	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:138144385-138146026	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr7:138144379-138144796	SK-N-SH_RA	brain:	n/a	n/a
18	BACH1	chr7:138144301-138144684	K562	blood:	n/a	n/a
19	POLR2A	chr7:138143131-138146474	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr7:138144380-138144530	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:138144359-138144736	HepG2	liver:	n/a	n/a
22	MAZ	chr7:138144441-138145269	HepG2	liver:	n/a	chr7:138144774-138144784 chr7:138144854-138144864
23	POLR2A	chr7:138144334-138146247	K562	blood:	n/a	n/a
24	CBX3	chr7:138144377-138144806	K562	blood:	n/a	n/a
25	MAX	chr7:138144405-138146089	NB4	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
26	EP300	chr7:138144442-138145302	SK-N-SH_RA	brain:	n/a	chr7:138145237-138145246 chr7:138145272-138145281 chr7:138144502-138144512
27	SIN3A	chr7:138144315-138144706	GM12878	blood:	n/a	n/a
28	ZNF143	chr7:138144408-138145152	K562	blood:	n/a	n/a
29	MXI1	chr7:138144387-138146323	GM12878	blood:	n/a	n/a
30	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
31	FOXA1	chr7:138144208-138144853	HepG2	liver:	n/a	n/a
32	RAD21	chr7:138144399-138144863	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr7:138144412-138145336	HepG2	liver:	n/a	n/a
34	NR2F2	chr7:138144276-138145399	K562	blood:	n/a	n/a
35	POLR2A	chr7:138144372-138146284	HepG2	liver:	n/a	n/a
36	TBL1XR1	chr7:138144447-138144838	K562	blood:	n/a	n/a
37	CHD2	chr7:138144404-138146252	Hela-S3	cervix:	n/a	chr7:138145774-138145784
38	POLR2A	chr7:138144395-138146075	GM18951	blood:	n/a	n/a
39	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
40	CTCF	chr7:138144420-138144570	K562	blood:	n/a	n/a
41	SIN3A	chr7:138144357-138147076	H1-hESC	embryonic stem cell:	n/a	chr7:138145170-138145179
42	POLR2A	chr7:138144404-138146215	GM18505	blood:	n/a	n/a
43	FOXA2	chr7:138144154-138144738	HepG2	liver:	n/a	n/a
44	CTCF	chr7:138144360-138144510	AoAF	blood vessel:	n/a	n/a
45	CEBPB	chr7:138144357-138145248	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:138144320-138144470	GM12864	blood:	n/a	n/a
47	PML	chr7:138144262-138144835	GM12878	blood:	n/a	n/a
48	HDAC2	chr7:138144322-138146189	MCF-7	breast:	n/a	chr7:138144502-138144511
49	TBL1XR1	chr7:138144372-138144763	K562	blood:	n/a	n/a
50	CTCF	chr7:138144440-138144590	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
2	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
3	chr7:137684812..137687576-chr7:138144415..138146987,3	K562	blood:
4	chr7:138129342..138131930-chr7:138142283..138144640,2	K562	blood:

Variant related genes	Relation type
TRIM24	TF binding region
ENSG00000214815	Chromatin interaction
ENSG00000182158	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	chr7:138143400-138144600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:138143800-138144600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr7:138143800-138146400	Active TSS	NH-A	brain
13	chr7:138143800-138147000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:138143800-138147400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:138144000-138145600	Active TSS	Primary B cells from cord blood	blood
17	chr7:138144000-138146400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:138144000-138146400	Active TSS	Brain Anterior Caudate	brain
19	chr7:138144000-138146400	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:138144000-138147400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:138144200-138144600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:138144200-138144600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:138144200-138144600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:138144200-138144600	Active TSS	Fetal Heart	heart
25	chr7:138144200-138144600	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr7:138144200-138144600	Flanking Active TSS	Dnd41	blood
27	chr7:138144200-138145400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:138144200-138146000	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:138144200-138146000	Active TSS	Primary B cells from peripheral blood	blood
30	chr7:138144200-138146000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:138144200-138146000	Active TSS	Primary hematopoietic stem cells	blood
32	chr7:138144200-138146000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:138144200-138146000	Active TSS	Adipose Nuclei	Adipose
34	chr7:138144200-138146000	Active TSS	Brain Angular Gyrus	brain
35	chr7:138144200-138146200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:138144200-138146200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:138144200-138146200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr7:138144200-138146200	Active TSS	Liver	Liver
39	chr7:138144200-138146200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:138144200-138146200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:138144200-138146200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:138144200-138146200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:138144200-138146200	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:138144200-138146200	Active TSS	HMEC	breast
45	chr7:138144200-138146400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr7:138144200-138146400	Active TSS	Fetal Lung	lung
47	chr7:138144200-138146600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:138144200-138146600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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