Variant report

Variant	rs544399632
Chromosome Location	chr7:101458456-101458457
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	CTCF	chr7:101457412-101459603	A549	lung:	n/a	chr7:101457575-101457593 chr7:101458936-101458949 chr7:101458934-101458952
2	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
3	RCOR1	chr7:101457339-101459438	K562	blood:	n/a	n/a
4	MAX	chr7:101457221-101459008	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
5	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
6	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
7	REST	chr7:101457889-101458499	A549	lung:	n/a	n/a
8	BCL3	chr7:101457787-101458519	A549	lung:	n/a	chr7:101457901-101457910
9	CTCF	chr7:101458440-101458590	GM12866	blood:	n/a	n/a
10	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
11	ZBTB7A	chr7:101458341-101459015	HepG2	liver:	n/a	chr7:101459001-101459012 chr7:101458935-101458944 chr7:101458977-101458991
12	EP300	chr7:101457932-101458865	A549	lung:	n/a	n/a
13	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
14	POLR2A	chr7:101457992-101458636	U87	brain:	n/a	n/a
15	MYC	chr7:101458346-101458939	MCF-7	breast:	n/a	n/a
16	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
17	MTA3	chr7:101457928-101458760	GM12878	blood:	n/a	n/a
18	TCF7L2	chr7:101458118-101458597	HEK293	kidney:	n/a	n/a
19	BCLAF1	chr7:101458272-101458826	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
22	CTCF	chr7:101458440-101458590	BE2_C	brain:	n/a	n/a
23	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
24	HDAC2	chr7:101458435-101459005	K562	blood:	n/a	n/a
25	POLR2A	chr7:101458389-101458818	GM12878	blood:	n/a	n/a
26	NFIC	chr7:101458018-101458764	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:101458145-101458694	ProgFib	skin:	n/a	n/a
28	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
29	POLR2A	chr7:101458114-101459617	K562	blood:	n/a	n/a
30	POLR2A	chr7:101458251-101460393	GM18951	blood:	n/a	n/a
31	YY1	chr7:101458212-101460088	K562	blood:	n/a	chr7:101459539-101459550 chr7:101459193-101459207 chr7:101459193-101459202 chr7:101459621-101459635 chr7:101459191-101459205 chr7:101459194-101459208 chr7:101459618-101459632 chr7:101459608-101459616 chr7:101459964-101459978 chr7:101459626-101459635 chr7:101459196-101459205 chr7:101459602-101459621 chr7:101458448-101458459 chr7:101459190-101459204 chr7:101459597-101459619 chr7:101459191-101459202 chr7:101459190-101459199
32	POLR2A	chr7:101458247-101458460	HCT-116	colon:	n/a	n/a
33	TBL1XR1	chr7:101458265-101458958	K562	blood:	n/a	n/a
34	POLR2A	chr7:101458194-101458863	HL-60	blood:	n/a	n/a
35	POLR2A	chr7:101458227-101458683	HepG2	liver:	n/a	n/a
36	E2F6	chr7:101457172-101458704	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
37	EP300	chr7:101457778-101459595	ECC-1	luminal epithelium:	n/a	chr7:101459191-101459207 chr7:101459192-101459201 chr7:101459195-101459204 chr7:101458873-101458889 chr7:101459226-101459235 chr7:101458886-101458902
38	CCNT2	chr7:101458354-101459570	K562	blood:	n/a	chr7:101459541-101459550 chr7:101458875-101458884 chr7:101458998-101459007
39	MAX	chr7:101458098-101459024	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:101458238-101459666	MCF-7	breast:	n/a	n/a
41	HEY1	chr7:101458082-101458978	K562	blood:	n/a	n/a
42	MYC	chr7:101457231-101459329	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
43	ELF1	chr7:101458389-101459037	K562	blood:	n/a	chr7:101458917-101458929 chr7:101458903-101458915
44	POLR2A	chr7:101458216-101459008	HCT-116	colon:	n/a	n/a
45	POLR2A	chr7:101457542-101459674	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr7:101458360-101458510	HCM	heart:	n/a	n/a
47	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
48	MYC	chr7:101457367-101458471	MCF10A-Er-Src	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
49	EP300	chr7:101458038-101458472	K562	blood:	n/a	n/a
50	CTCF	chr7:101458380-101458530	BJ	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101458433-101458483	SK-N-SH	brain:	n/a
2	chr7:101458433-101458483	CMK	blood:	n/a
3	chr7:101458433-101458483	NT2-D1	testis:	n/a
4	chr7:101458433-101458483	NB4	blood:	n/a
5	chr7:101458433-101458483	GM19239	blood:	n/a
6	chr7:101458433-101458483	NHBE	bronchial:	n/a
7	chr7:101458433-101458483	K562	blood:	n/a
8	chr7:101458433-101458483	HEEpiC	esophagus:	n/a
9	chr7:101458433-101458483	MCF10A-Er-Src	breast:	n/a
10	chr7:101458433-101458483	HMEC	breast:	n/a
11	chr7:101458433-101458483	HEK293	kidney:	embryo
12	chr7:101458433-101458483	RPTEC	kidney:	n/a
13	chr7:101458433-101458483	GM12878	blood:	n/a
14	chr7:101458433-101458483	HCF	heart:	n/a
15	chr7:101458433-101458483	LNCaP	prostate:	n/a
16	chr7:101458433-101458483	HIPEpiC	eye:	n/a
17	chr7:101458433-101458483	AoSMC	blood vessel:	n/a
18	chr7:101458433-101458483	SK-N-SH_RA	brain:	n/a
19	chr7:101458433-101458483	NH-A	brain:	n/a
20	chr7:101458433-101458483	HRE	kidney:	n/a
21	chr7:101458433-101458483	SK-N-MC	brain:	n/a
22	chr7:101458433-101458483	SKMC	muscle:	n/a
23	chr7:101458433-101458483	HRCEpiC	kidney:	n/a
24	chr7:101458433-101458483	NHDF-neo	bronchial:	n/a
25	chr7:101458433-101458483	AG09319	gingival:	n/a
26	chr7:101458433-101458483	ProgFib	skin:	n/a
27	chr7:101458433-101458483	HUVEC	blood vessel:	n/a
28	chr7:101458433-101458483	T-47D	breast:	n/a
29	chr7:101458433-101458483	GM12892	blood:	n/a
30	chr7:101458433-101458483	MCF-7	breast:	n/a
31	chr7:101458433-101458483	AG09309	skin:	n/a
32	chr7:101458433-101458483	PFSK-1	brain:	n/a
33	chr7:101458433-101458483	IMR90	lung:	fetal
34	chr7:101458433-101458483	A549	lung:	n/a
35	chr7:101458433-101458483	AG04449	skin:	fetal
36	chr7:101458433-101458483	HNPCEpiC	eye:	n/a
37	chr7:101458433-101458483	GM12891	blood:	n/a
38	chr7:101458433-101458483	Jurkat	blood:	n/a
39	chr7:101458433-101458483	HAEpiC	amniotic membrane:	n/a
40	chr7:101458433-101458483	Caco-2	colon:	n/a
41	chr7:101458433-101458483	GM06990	blood:	n/a
42	chr7:101458433-101458483	HepG2	liver:	n/a
43	chr7:101458433-101458483	SAEC	small airway:	n/a
44	chr7:101458433-101458483	AG04450	lung:	fetal
45	chr7:101458433-101458483	BE2_C	brain:	n/a
46	chr7:101458433-101458483	HL-60	blood:	n/a
47	chr7:101458433-101458483	ovcar-3	ovarian:	n/a
48	chr7:101458433-101458483	HCT-116	colon:	n/a
49	chr7:101458433-101458483	HRPEpiC	eye:	n/a
50	chr7:101458433-101458483	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:127394387..127395170-chr7:101458070..101458842,2	Hela-S3	cervix:
2	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
3	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
4	chr15:52469891..52472535-chr7:101457623..101459859,2	MCF-7	breast:
5	chr13:48611688..48613332-chr7:101457559..101460225,2	MCF-7	breast:
6	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
7	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
8	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
9	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
10	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
11	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
12	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
13	chr12:53297960..53298460-chr7:101458053..101458556,2	Hela-S3	cervix:
14	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
15	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
16	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
17	chr2:207024339..207026427-chr7:101458417..101459962,2	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000226648	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000265345	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000114942	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000160963	Chromatin interaction
ENSG00000114626	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000106436	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000124181	Chromatin interaction
ENSG00000259294	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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv824245	chr7:101455132-101461951	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
11	esv20678	chr7:101457194-101460796	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	esv3396517	chr7:101457757-101461105	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
13	nsv824246	chr7:101457830-101461416	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	esv3388804	chr7:101458232-101461980	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
16	esv3338355	chr7:101458232-101462630	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 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	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
5	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
6	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
8	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
12	chr7:101457000-101461400	Active TSS	Ovary	ovary
13	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
14	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
16	chr7:101457200-101458800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:101457200-101458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr7:101457200-101458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:101457200-101459400	Active TSS	A549	lung
20	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
25	chr7:101457200-101461000	Active TSS	Thymus	Thymus
26	chr7:101457200-101461200	Active TSS	Aorta	Aorta
27	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:101457200-101461800	Active TSS	Right Atrium	heart
31	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
32	chr7:101457400-101458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:101457400-101458600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr7:101457400-101458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr7:101457400-101458800	Flanking Active TSS	Liver	Liver
36	chr7:101457400-101460800	Active TSS	Spleen	Spleen
37	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
38	chr7:101457400-101461000	Active TSS	Lung	lung
39	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr7:101457400-101461200	Active TSS	Gastric	stomach
41	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
42	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
43	chr7:101457400-101461400	Active TSS	NHLF	lung
44	chr7:101457600-101458600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:101457600-101458600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:101457600-101458600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:101457600-101458600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr7:101457600-101458600	Flanking Active TSS	Placenta	Placenta
49	chr7:101457600-101458800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:101457600-101458800	Flanking Active TSS	Primary B cells from cord blood	blood

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