Variant report

Variant	rs533780776
Chromosome Location	chr7:150946569-150946570
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	SMARCB1	chr7:150945391-150946629	Hela-S3	cervix:	n/a	n/a
2	E2F6	chr7:150945994-150946648	A549	lung:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
3	BACH1	chr7:150946355-150946673	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F4	chr7:150946376-150946593	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:150946169-150946611	A549	lung:	n/a	n/a
6	MAX	chr7:150945235-150946610	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
7	POLR2A	chr7:150946530-150947026	HCT-116	colon:	n/a	n/a
8	NR2F2	chr7:150946240-150946777	K562	blood:	n/a	n/a
9	MAX	chr7:150946053-150946797	ECC-1	luminal epithelium:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
10	MAX	chr7:150945512-150946750	ECC-1	luminal epithelium:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
11	POLR2A	chr7:150946190-150947008	HCT-116	colon:	n/a	n/a
12	MAX	chr7:150946064-150946607	K562	blood:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
13	TAF1	chr7:150945626-150946690	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:150946072-150946626	Gliobla	brain:	n/a	n/a
15	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
16	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
17	MAX	chr7:150945137-150946765	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
18	MAX	chr7:150945553-150946706	HepG2	liver:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
19	EP300	chr7:150945430-150946830	ECC-1	luminal epithelium:	n/a	chr7:150946151-150946160 chr7:150946637-150946651 chr7:150946668-150946684
20	POLR2A	chr7:150946091-150947080	U87	brain:	n/a	n/a
21	NFIC	chr7:150945988-150946950	ECC-1	luminal epithelium:	n/a	n/a
22	SPI1	chr7:150946462-150946734	HL-60	blood:	n/a	chr7:150946608-150946621 chr7:150946590-150946603
23	POLR2A	chr7:150946236-150946731	H1-neurons	neurons:	n/a	n/a
24	MAX	chr7:150945209-150946678	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
25	MAX	chr7:150946266-150946596	NB4	blood:	n/a	n/a
26	POLR2A	chr7:150946073-150946588	ProgFib	skin:	n/a	n/a
27	MAX	chr7:150945605-150946675	Hela-S3	cervix:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
28	POLR2A	chr7:150946252-150946646	U87	brain:	n/a	n/a
29	POLR2A	chr7:150946097-150947080	U87	brain:	n/a	n/a
30	MAX	chr7:150945922-150946587	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
31	MXI1	chr7:150943671-150947189	IMR90	lung:	n/a	chr7:150944194-150944203 chr7:150945408-150945423
32	MAZ	chr7:150945299-150947154	IMR90	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
33	GABPA	chr7:150946233-150946594	K562	blood:	n/a	n/a
34	ZNF263	chr7:150942876-150947378	HEK293-T-REx	kidney:	n/a	chr7:150943567-150943576 chr7:150943679-150943688 chr7:150943760-150943769 chr7:150946929-150946938 chr7:150947019-150947028
35	ELF1	chr7:150946406-150946739	K562	blood:	n/a	chr7:150946636-150946647
36	MAX	chr7:150944521-150946898	A549	lung:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150946726-150946735 chr7:150944834-150944843
37	ZBTB7A	chr7:150944736-150947117	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794 chr7:150946998-150947005 chr7:150946879-150946886
38	POLR2A	chr7:150946148-150947170	SK-N-MC	brain:	n/a	n/a
39	E2F6	chr7:150945674-150946576	K562	blood:	n/a	chr7:150946091-150946100 chr7:150946063-150946072

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:
2	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3364561	chr7:150945169-150947267	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150944600-150946800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:150944600-150946800	Active TSS	Fetal Kidney	kidney
3	chr7:150944600-150947000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:150944600-150947000	Active TSS	Aorta	Aorta
5	chr7:150944600-150947000	Active TSS	Psoas Muscle	Psoas
6	chr7:150944800-150947000	Active TSS	Right Atrium	heart
7	chr7:150945000-150946600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr7:150945000-150946600	Active TSS	Brain Substantia Nigra	brain
9	chr7:150945000-150946800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:150945000-150946800	Flanking Bivalent TSS/Enh	Thymus	Thymus
11	chr7:150945000-150947200	Active TSS	HSMMtube	muscle
12	chr7:150945200-150946600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:150945200-150946600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:150945200-150946600	Active TSS	Brain Anterior Caudate	brain
15	chr7:150945200-150946600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:150945200-150946600	Active TSS	Colon Smooth Muscle	Colon
17	chr7:150945200-150946800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:150945400-150946600	Active TSS	Small Intestine	intestine
19	chr7:150945400-150946800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:150945400-150946800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:150945600-150946600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:150945600-150946800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr7:150945600-150946800	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:150945600-150947400	Enhancers	Fetal Brain Male	brain
25	chr7:150945800-150946600	Bivalent Enhancer	Dnd41	blood
26	chr7:150945800-150946800	Enhancers	Liver	Liver
27	chr7:150946000-150946600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150946000-150946600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:150946000-150946600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr7:150946000-150946600	Flanking Active TSS	HUVEC	blood vessel
31	chr7:150946000-150946600	Flanking Active TSS	NH-A	brain
32	chr7:150946000-150946600	Flanking Active TSS	NHLF	lung
33	chr7:150946000-150946800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:150946000-150946800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150946000-150947000	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr7:150946000-150947000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr7:150946000-150947200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:150946000-150947400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:150946000-150947600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:150946000-150948800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr7:150946200-150946600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:150946200-150946600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:150946200-150946600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:150946200-150946600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr7:150946200-150946600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:150946200-150946600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:150946200-150946600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:150946200-150946600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:150946200-150946600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
50	chr7:150946200-150946600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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