Variant report

Variant	rs530517729
Chromosome Location	chr7:18548935-18548936
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	MAX	chr7:18548713-18549045	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr7:18548812-18549410	GM12878	blood:	n/a	chr7:18548867-18548876
3	POLR2A	chr7:18547931-18549590	PANC-1	pancreas:	n/a	n/a
4	MAX	chr7:18548416-18549162	ECC-1	luminal epithelium:	n/a	n/a
5	FOXM1	chr7:18548353-18549233	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3AK20	chr7:18548576-18549196	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr7:18548472-18549173	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr7:18548751-18549058	ProgFib	skin:	n/a	n/a
9	TEAD4	chr7:18548090-18549238	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr7:18548739-18549148	Gliobla	brain:	n/a	n/a
11	POLR2A	chr7:18548031-18549643	GM12892	blood:	n/a	n/a
12	GATA3	chr7:18547948-18549579	SK-N-SH	brain:	n/a	chr7:18548272-18548281
13	PML	chr7:18548605-18549018	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:18548598-18549060	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:18548142-18549192	U87	brain:	n/a	n/a
16	POU2F2	chr7:18548753-18549090	GM12891	blood:	n/a	chr7:18548856-18548867
17	ELF1	chr7:18548387-18549304	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr7:18547945-18549304	SK-N-SH	brain:	n/a	n/a
19	CHD2	chr7:18548866-18549134	H1-hESC	embryonic stem cell:	n/a	n/a
20	RELA	chr7:18548073-18549024	GM10847	blood:	n/a	chr7:18548814-18548823 chr7:18548814-18548823
21	POLR2A	chr7:18548806-18549086	H1-hESC	embryonic stem cell:	n/a	n/a
22	EP300	chr7:18547994-18549515	SK-N-SH	brain:	n/a	chr7:18548867-18548876 chr7:18548274-18548283 chr7:18548273-18548282
23	GATA2	chr7:18548681-18549156	HUVEC	blood vessel:	n/a	n/a
24	RELA	chr7:18547414-18549462	GM18505	blood:	n/a	chr7:18548814-18548823 chr7:18548814-18548823
25	MEF2A	chr7:18548086-18549734	SK-N-SH	brain:	n/a	chr7:18548881-18548902 chr7:18549642-18549657 chr7:18548883-18548897 chr7:18548693-18548714 chr7:18548884-18548895
26	POLR2A	chr7:18547943-18549297	GM12892	blood:	n/a	n/a
27	NFATC1	chr7:18548096-18548949	GM12878	blood:	n/a	n/a
28	POU2F2	chr7:18548677-18549105	GM12891	blood:	n/a	chr7:18548856-18548867
29	MTA3	chr7:18547965-18549220	GM12878	blood:	n/a	n/a
30	JUN	chr7:18548673-18549213	H1-hESC	embryonic stem cell:	n/a	n/a
31	EP300	chr7:18548669-18549088	SK-N-SH_RA	brain:	n/a	chr7:18548867-18548876
32	RAD21	chr7:18548267-18549128	IMR90	lung:	n/a	n/a
33	POLR2A	chr7:18548085-18549180	GM12891	blood:	n/a	n/a
34	POLR2A	chr7:18548727-18549038	H1-hESC	embryonic stem cell:	n/a	n/a
35	FOS	chr7:18548089-18549269	MCF10A-Er-Src	breast:	n/a	chr7:18548270-18548281 chr7:18548275-18548282 chr7:18548274-18548283 chr7:18548274-18548282 chr7:18548273-18548282
36	POLR2A	chr7:18548612-18549122	SK-N-SH	brain:	n/a	n/a
37	MAX	chr7:18548006-18549099	HCT-116	colon:	n/a	chr7:18548274-18548283
38	TEAD4	chr7:18548315-18549181	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr7:18548893-18549101	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:18548144-18549115	GM12878	blood:	n/a	n/a
41	TEAD4	chr7:18548536-18549148	ECC-1	luminal epithelium:	n/a	n/a
42	NFIC	chr7:18548166-18549692	SK-N-SH	brain:	n/a	n/a
43	JUND	chr7:18548152-18549183	H1-hESC	embryonic stem cell:	n/a	chr7:18548270-18548281 chr7:18548275-18548282 chr7:18548274-18548283 chr7:18548274-18548282 chr7:18548273-18548282 chr7:18548272-18548283
44	MAX	chr7:18548492-18549138	HCT-116	colon:	n/a	n/a
45	GATA3	chr7:18547481-18549815	SK-N-SH	brain:	n/a	chr7:18548272-18548281
46	NFIC	chr7:18548189-18549231	ECC-1	luminal epithelium:	n/a	n/a
47	NFYB	chr7:18548668-18549009	GM12878	blood:	n/a	n/a
48	TCF12	chr7:18548095-18549226	ECC-1	luminal epithelium:	n/a	chr7:18548354-18548361
49	FOSL2	chr7:18548090-18549098	SK-N-SH	brain:	n/a	chr7:18548270-18548281 chr7:18548275-18548282 chr7:18548274-18548283 chr7:18548274-18548282 chr7:18548273-18548282
50	MEF2A	chr7:18548303-18549298	SK-N-SH	brain:	n/a	chr7:18548881-18548902 chr7:18548883-18548897 chr7:18548693-18548714 chr7:18548884-18548895

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887812	chr7:18548719-18622368	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18541800-18551600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:18542000-18553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:18543000-18549600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:18543000-18554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:18545600-18554200	Weak transcription	Fetal Brain Female	brain
6	chr7:18546000-18551000	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:18546200-18551800	Enhancers	Primary B cells from cord blood	blood
8	chr7:18547600-18549000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:18547800-18549400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:18547800-18549400	Enhancers	Hela-S3	cervix
11	chr7:18547800-18549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:18548000-18549000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:18548000-18549000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:18548000-18549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:18548000-18549600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:18548000-18550200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:18548000-18551000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:18548200-18549000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:18548200-18549000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:18548200-18549000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:18548200-18549000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:18548200-18549200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:18548200-18549400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:18548200-18549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:18548200-18549400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:18548200-18549600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:18548200-18549800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:18548200-18549800	Flanking Active TSS	Osteobl	bone
29	chr7:18548200-18550800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:18548400-18549000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr7:18548400-18549000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:18548400-18549000	Enhancers	Brain Angular Gyrus	brain
33	chr7:18548400-18549000	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:18548400-18549000	Enhancers	Brain Substantia Nigra	brain
35	chr7:18548400-18549200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:18548400-18549200	Flanking Active TSS	Fetal Heart	heart
37	chr7:18548400-18549400	Flanking Active TSS	HUVEC	blood vessel
38	chr7:18548400-18549600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:18548400-18549600	Active TSS	Stomach Mucosa	stomach
40	chr7:18548400-18549600	Flanking Active TSS	HSMM	muscle
41	chr7:18548400-18551000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:18548600-18549200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:18548600-18549200	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:18548600-18549400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:18548600-18549400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:18548600-18549400	Active TSS	Psoas Muscle	Psoas
47	chr7:18548600-18549400	Active TSS	Right Ventricle	heart
48	chr7:18548600-18549600	Flanking Active TSS	GM12878-XiMat	blood
49	chr7:18548600-18550400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:18548600-18551200	Active TSS	NHEK	skin

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