Variant report

Variant	rs539963922
Chromosome Location	chr7:66206772-66206773
allele	G/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	FOS	chr7:66206368-66206785	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:66204697-66206885	U87	brain:	n/a	n/a
3	POLR2A	chr7:66205149-66206942	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:66204957-66206816	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3AK20	chr7:66205095-66206923	SK-N-SH	brain:	n/a	n/a
6	E2F6	chr7:66206705-66206837	K562	blood:	n/a	n/a
7	POLR2A	chr7:66204661-66206781	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr7:66206640-66206823	K562	blood:	n/a	n/a
9	ZNF263	chr7:66206637-66206913	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr7:66204503-66206919	GM12878	blood:	n/a	n/a
11	HA-E2F1	chr7:66206403-66206827	MCF-7	breast:	n/a	n/a
12	CBX3	chr7:66204579-66206971	K562	blood:	n/a	n/a
13	POLR2A	chr7:66204889-66206833	PANC-1	pancreas:	n/a	n/a
14	MAX	chr7:66204943-66206927	K562	blood:	n/a	chr7:66206178-66206188 chr7:66206237-66206247
15	MXI1	chr7:66204499-66207187	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:66204637-66207021	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr7:66206690-66206888	Hela-S3	cervix:	n/a	n/a
18	CHD1	chr7:66204636-66207098	IMR90	lung:	n/a	chr7:66205738-66205748 chr7:66206110-66206120 chr7:66205667-66205677 chr7:66205672-66205682
19	MAZ	chr7:66204924-66206914	IMR90	lung:	n/a	chr7:66206178-66206188 chr7:66206237-66206247
20	TAF1	chr7:66206725-66206923	SK-N-SH	brain:	n/a	n/a
21	MAZ	chr7:66206690-66206822	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:66204624-66206989	IMR90	lung:	n/a	n/a
23	STAT3	chr7:66206461-66206780	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr7:66206375-66206774	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr7:66206484-66206773	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:66204626-66206894	GM12878	blood:	n/a	n/a
27	MXI1	chr7:66205231-66206931	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
2	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
3	chr7:66205946..66208187-chr7:66309676..66311325,2	MCF-7	breast:
4	chr7:66205725..66207353-chr7:66207678..66209182,2	MCF-7	breast:
5	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
6	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
7	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
8	chr7:66203955..66208659-chr7:66209716..66215353,8	K562	blood:
9	chr7:66205494..66207120-chr7:66460055..66461810,2	MCF-7	breast:
10	chr7:66118548..66121026-chr7:66205734..66207315,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272831	TF binding region
ENSG00000126524	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000154710	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv970871	chr7:66206610-66210233	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 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	chr7:66204200-66208000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:66204400-66207200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:66204400-66207400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:66204400-66207800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:66204600-66206800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:66204600-66206800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:66204600-66206800	Active TSS	Fetal Kidney	kidney
8	chr7:66204600-66207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:66204600-66207000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:66204600-66207000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:66204600-66207000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:66204600-66207000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:66204600-66207000	Active TSS	Colon Smooth Muscle	Colon
14	chr7:66204600-66207000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:66204600-66207000	Active TSS	Psoas Muscle	Psoas
16	chr7:66204600-66207000	Active TSS	Right Ventricle	heart
17	chr7:66204600-66207200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:66204600-66207400	Active TSS	HMEC	breast
19	chr7:66204600-66207600	Active TSS	NHDF-Ad	bronchial
20	chr7:66204600-66207800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:66204800-66206800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:66204800-66206800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:66204800-66206800	Active TSS	Esophagus	oesophagus
24	chr7:66204800-66206800	Active TSS	Left Ventricle	heart
25	chr7:66204800-66206800	Active TSS	Lung	lung
26	chr7:66204800-66206800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:66204800-66207000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:66204800-66207000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:66204800-66207000	Active TSS	Ovary	ovary
30	chr7:66204800-66207000	Active TSS	A549	lung
31	chr7:66204800-66207400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:66204800-66207600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:66204800-66207600	Active TSS	HSMMtube	muscle
34	chr7:66204800-66207600	Active TSS	NHLF	lung
35	chr7:66204800-66208000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:66205000-66206800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr7:66205000-66206800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:66205000-66206800	Active TSS	Aorta	Aorta
39	chr7:66205000-66206800	Active TSS	Duodenum Mucosa	Duodenum
40	chr7:66205000-66206800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr7:66205000-66206800	Active TSS	Gastric	stomach
42	chr7:66205000-66206800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr7:66205000-66206800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr7:66205000-66206800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr7:66205000-66206800	Active TSS	K562	blood
46	chr7:66205000-66207000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:66205000-66207000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:66205000-66207000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:66205000-66207200	Active TSS	NHEK	skin
50	chr7:66205000-66207400	Active TSS	GM12878-XiMat	blood

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