Variant report

Variant	rs540701047
Chromosome Location	chr7:65446589-65446590
allele	A/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	CHD1	chr7:65446524-65446724	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr7:65446576-65447549	K562	blood:	n/a	n/a
3	NR2F2	chr7:65446571-65447793	MCF-7	breast:	n/a	n/a
4	REST	chr7:65446557-65447832	H1-neurons	neurons:	n/a	chr7:65446779-65446792 chr7:65447326-65447336
5	ZBTB7A	chr7:65446560-65447483	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr7:65446560-65446710	GM06990	blood:	n/a	n/a
7	POLR2A	chr7:65446400-65447727	K562	blood:	n/a	n/a
8	MXI1	chr7:65445412-65448047	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr7:65446480-65446630	MCF-7	breast:	n/a	n/a
10	MAX	chr7:65446563-65447851	K562	blood:	n/a	n/a
11	NR2F2	chr7:65446414-65447424	K562	blood:	n/a	n/a
12	HA-E2F1	chr7:65446437-65447599	MCF-7	breast:	n/a	chr7:65447214-65447225 chr7:65446814-65446824
13	E2F6	chr7:65446498-65446660	K562	blood:	n/a	n/a
14	ZNF384	chr7:65445985-65446638	K562	blood:	n/a	n/a
15	NR2F2	chr7:65445404-65447918	K562	blood:	n/a	n/a
16	POLR2A	chr7:65446417-65447516	K562	blood:	n/a	n/a
17	HCFC1	chr7:65446253-65447869	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr7:65446401-65447770	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:65337864..65339398-chr7:65445758..65448693,2	K562	blood:
2	chr7:65431377..65432977-chr7:65445764..65448122,2	K562	blood:
3	chr7:65438802..65441733-chr7:65444240..65447107,3	MCF-7	breast:
4	chr7:65445709..65448649-chr7:65579782..65581390,2	K562	blood:

Variant related genes	Relation type
GUSB	TF binding region
ENSG00000169919	Chromatin interaction
ENSG00000196715	Chromatin interaction
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv967489	chr7:65445874-65469129	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65445200-65446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr7:65445400-65446600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr7:65445400-65446600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:65445400-65446600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr7:65445400-65446800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr7:65445400-65446800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr7:65445400-65446800	Enhancers	Fetal Heart	heart
8	chr7:65445400-65447600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:65445600-65446600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:65445600-65446600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:65445600-65446600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:65445600-65446600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:65445600-65446600	Flanking Active TSS	Fetal Thymus	thymus
14	chr7:65445600-65446800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr7:65445600-65446800	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr7:65445600-65447400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:65445600-65447600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:65445600-65447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:65445600-65447800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:65445600-65447800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:65445800-65446600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:65445800-65446600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:65445800-65446600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:65445800-65446800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:65445800-65446800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr7:65445800-65446800	Enhancers	Spleen	Spleen
27	chr7:65445800-65447400	Active TSS	Colonic Mucosa	Colon
28	chr7:65445800-65447600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:65445800-65447600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:65445800-65447600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr7:65445800-65447800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:65445800-65447800	Active TSS	Fetal Kidney	kidney
33	chr7:65446000-65446600	Flanking Active TSS	Fetal Stomach	stomach
34	chr7:65446000-65446600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:65446000-65446800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr7:65446000-65446800	Flanking Active TSS	Placenta	Placenta
37	chr7:65446000-65447400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:65446000-65447400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:65446000-65447400	Active TSS	Esophagus	oesophagus
40	chr7:65446000-65447400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:65446000-65447400	Active TSS	GM12878-XiMat	blood
42	chr7:65446000-65447600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:65446000-65447600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:65446000-65447600	Active TSS	HSMMtube	muscle
45	chr7:65446000-65447800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:65446000-65447800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:65446000-65447800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr7:65446000-65447800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:65446200-65446600	Flanking Active TSS	Fetal Brain Male	brain
50	chr7:65446200-65446600	Flanking Active TSS	Thymus	Thymus

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