Variant report

Variant	rs386709664
Chromosome Location	chr7:5013298-5013299
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr7:5013261-5013855	A549	lung:	n/a	n/a
2	EGR1	chr7:5013245-5013711	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:5013232-5014125	K562	blood:	n/a	n/a
4	CTCF	chr7:5013286-5013862	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:5013248-5013806	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:5013153-5014735	SK-N-SH	brain:	n/a	chr7:5014126-5014139
7	CBX3	chr7:5013182-5014155	HCT-116	colon:	n/a	n/a
8	TRIM28	chr7:5013247-5013874	K562	blood:	n/a	n/a
9	CBX3	chr7:5013157-5014292	K562	blood:	n/a	n/a
10	CTCF	chr7:5013262-5013789	K562	blood:	n/a	n/a
11	EGR1	chr7:5013186-5014247	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr7:5013269-5014163	ECC-1	luminal epithelium:	n/a	n/a
13	STAT5A	chr7:5013248-5013812	K562	blood:	n/a	n/a
14	CTCF	chr7:5013283-5013814	A549	lung:	n/a	n/a
15	IRF4	chr7:5013219-5013778	GM12878	blood:	n/a	n/a
16	SP2	chr7:5013281-5013679	K562	blood:	n/a	n/a
17	CTCF	chr7:5013197-5013925	HCT-116	colon:	n/a	n/a
18	POU2F2	chr7:5013244-5014346	GM12878	blood:	n/a	chr7:5013992-5014004
19	BCLAF1	chr7:5013287-5013900	GM12878	blood:	n/a	n/a
20	SP2	chr7:5013266-5013718	K562	blood:	n/a	n/a
21	POU2F2	chr7:5013276-5013791	GM12891	blood:	n/a	n/a
22	HCFC1	chr7:5013187-5014447	Hela-S3	cervix:	n/a	n/a
23	YY1	chr7:5013298-5013882	GM12878	blood:	n/a	n/a
24	CTCF	chr7:5013271-5014060	HCT-116	colon:	n/a	n/a
25	CTCF	chr7:5013262-5013832	SK-N-SH_RA	brain:	n/a	n/a
26	MXI1	chr7:5013281-5014756	IMR90	lung:	n/a	chr7:5013398-5013407
27	CBX3	chr7:5013163-5013772	K562	blood:	n/a	n/a
28	FOXM1	chr7:5013238-5013931	GM12878	blood:	n/a	n/a
29	MAX	chr7:5013249-5014035	H1-hESC	embryonic stem cell:	n/a	n/a
30	ESRRA	chr7:5013130-5014286	GM12878	blood:	n/a	chr7:5013563-5013576
31	PML	chr7:5013290-5014506	GM12878	blood:	n/a	n/a
32	NRF1	chr7:5013198-5014707	SK-N-SH	brain:	n/a	chr7:5014418-5014432 chr7:5013648-5013659 chr7:5014165-5014174
33	BCLAF1	chr7:5013230-5013900	K562	blood:	n/a	n/a
34	SP2	chr7:5013204-5013791	HepG2	liver:	n/a	n/a
35	MAZ	chr7:5013222-5014502	IMR90	lung:	n/a	n/a
36	STAT5A	chr7:5013297-5013881	GM12878	blood:	n/a	n/a
37	CTCF	chr7:5013206-5014568	A549	lung:	n/a	chr7:5014126-5014139
38	SP2	chr7:5013230-5013800	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:5013292-5013718	HepG2	liver:	n/a	n/a
40	RAD21	chr7:5013245-5014151	HCT-116	colon:	n/a	chr7:5013815-5013829
41	SP1	chr7:5013296-5013814	GM12878	blood:	n/a	n/a
42	NR2F2	chr7:5013262-5013781	K562	blood:	n/a	n/a
43	CTCF	chr7:5013295-5013883	IMR90	lung:	n/a	n/a
44	CEBPB	chr7:5013255-5013821	GM12878	blood:	n/a	n/a
45	CTCF	chr7:5013284-5013850	H1-hESC	embryonic stem cell:	n/a	n/a
46	SP2	chr7:5013256-5013790	HepG2	liver:	n/a	n/a
47	SP4	chr7:5013258-5013832	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr7:5013278-5014082	HepG2	liver:	n/a	n/a
49	CTCF	chr7:5013174-5014179	K562	blood:	n/a	chr7:5014126-5014139
50	CTCF	chr7:5013286-5014071	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5012537..5014887-chr7:5022005..5024140,2	K562	blood:
2	chr7:5012695..5014428-chr7:5820890..5822170,10	MCF-7	breast:
3	chr7:5012957..5014985-chr7:5085347..5086905,2	MCF-7	breast:
4	chr7:5012217..5014206-chr7:5819722..5821650,2	MCF-7	breast:
5	chr7:5013249..5014674-chr7:5819932..5821408,8	Hela-S3	cervix:
6	chr7:5012944..5014466-chr7:5819776..5821589,2	MCF-7	breast:
7	chr7:5012983..5015694-chr7:5819277..5821133,2	K562	blood:
8	chr7:5012931..5013720-chr7:5820910..5821674,3	MCF-7	breast:
9	chr7:5012284..5014483-chr7:5819277..5821280,2	K562	blood:

No data

Variant related genes	Relation type
RNF216P1	TF binding region
ENSG00000196204	Chromatin interaction
ENSG00000146587	Chromatin interaction
ENSG00000272968	Chromatin interaction
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
13	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv525289	chr7:5003373-5083741	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3379760	chr7:5012976-5014924	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4999200-5013400	Weak transcription	Right Atrium	heart
2	chr7:5011400-5013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:5012800-5014800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr7:5013200-5013400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:5013200-5013400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr7:5013200-5013400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:5013200-5013400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:5013200-5013400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:5013200-5013400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:5013200-5013400	Enhancers	Adipose Nuclei	Adipose
11	chr7:5013200-5013400	Enhancers	Liver	Liver
12	chr7:5013200-5013400	Active TSS	Brain Germinal Matrix	brain
13	chr7:5013200-5013400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:5013200-5013400	Enhancers	Stomach Mucosa	stomach
15	chr7:5013200-5013600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:5013200-5013600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:5013200-5013600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:5013200-5013600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:5013200-5013600	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr7:5013200-5013600	Flanking Active TSS	Dnd41	blood
21	chr7:5013200-5013800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:5013200-5014200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:5013200-5014400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:5013200-5014400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:5013200-5014600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:5013200-5014600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:5013200-5014600	Active TSS	HSMMtube	muscle
28	chr7:5013200-5014800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:5013200-5014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:5013200-5014800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:5013200-5014800	Active TSS	Colonic Mucosa	Colon
32	chr7:5013200-5014800	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:5013200-5014800	Active TSS	Fetal Stomach	stomach
34	chr7:5013200-5014800	Active TSS	HUVEC	blood vessel
35	chr7:5013200-5014800	Active TSS	NHDF-Ad	bronchial
36	chr7:5013200-5015000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:5013200-5015000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:5013200-5015000	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:5013200-5015000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:5013200-5015000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:5013200-5015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:5013200-5015000	Active TSS	Brain Angular Gyrus	brain
43	chr7:5013200-5015000	Active TSS	Brain Anterior Caudate	brain
44	chr7:5013200-5015000	Active TSS	Brain Cingulate Gyrus	brain
45	chr7:5013200-5015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:5013200-5015000	Active TSS	Fetal Brain Female	brain
47	chr7:5013200-5015000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:5013200-5015000	Active TSS	Stomach Smooth Muscle	stomach
49	chr7:5013200-5015000	Active TSS	A549	lung
50	chr7:5013200-5015000	Active TSS	GM12878-XiMat	blood

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