Variant report

Variant	rs537478812
Chromosome Location	chr7:101457828-101457829
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	ELF1	chr7:101457236-101457945	GM12878	blood:	n/a	chr7:101457613-101457625
5	GABPA	chr7:101457388-101457896	K562	blood:	n/a	chr7:101457528-101457537
6	MAX	chr7:101457221-101459008	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
7	RFX5	chr7:101456872-101458425	Hela-S3	cervix:	n/a	n/a
8	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
9	POLR2A	chr7:101457364-101457969	MCF-7	breast:	n/a	n/a
10	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
11	POLR2A	chr7:101457363-101457854	Hela-S3	cervix:	n/a	n/a
12	BCL3	chr7:101457787-101458519	A549	lung:	n/a	chr7:101457901-101457910
13	HEY1	chr7:101457353-101458058	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
14	ZBTB7A	chr7:101457217-101457851	ECC-1	luminal epithelium:	n/a	n/a
15	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
16	POLR2A	chr7:101457364-101457888	HepG2	liver:	n/a	n/a
17	MYC	chr7:101457348-101458402	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
18	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
19	CTCF	chr7:101457824-101457839	GM12878	blood:	n/a	n/a
20	YY1	chr7:101457388-101457972	GM12878	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
21	SMARCB1	chr7:101457316-101457933	Hela-S3	cervix:	n/a	n/a
22	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
23	ELK1	chr7:101457545-101457868	K562	blood:	n/a	n/a
24	MYC	chr7:101457321-101457897	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
25	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr7:101457780-101457930	GM12873	blood:	n/a	n/a
27	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
28	HA-E2F1	chr7:101457317-101457854	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
29	POLR2A	chr7:101457333-101457893	K562	blood:	n/a	n/a
30	FOXP2	chr7:101457382-101457841	PFSK-1	brain:	n/a	n/a
31	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:101457416-101457844	ProgFib	skin:	n/a	n/a
33	RCOR1	chr7:101456952-101458359	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr7:101457371-101457907	K562	blood:	n/a	n/a
35	CTCF	chr7:101457820-101457970	NHLF	lung:	n/a	n/a
36	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
37	RAD21	chr7:101457411-101457850	GM12878	blood:	n/a	chr7:101457573-101457592 chr7:101457575-101457587
38	CTCF	chr7:101457385-101457854	IMR90	lung:	n/a	chr7:101457575-101457593
39	CEBPB	chr7:101457801-101458438	K562	blood:	n/a	n/a
40	POLR2A	chr7:101457373-101457975	HL-60	blood:	n/a	n/a
41	CTCF	chr7:101457820-101457970	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr7:101457800-101457950	GM06990	blood:	n/a	n/a
43	E2F6	chr7:101457172-101458704	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
44	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
45	MYC	chr7:101457231-101459329	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
46	ZKSCAN1	chr7:101457441-101457852	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:101457243-101457833	HCT-116	colon:	n/a	n/a
48	POLR2A	chr7:101457542-101459674	H1-neurons	neurons:	n/a	n/a
49	CREB1	chr7:101457380-101457853	A549	lung:	n/a	n/a
50	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101457812-101457862	LNCaP	prostate:	n/a
2	chr7:101457812-101457862	HUVEC	blood vessel:	n/a
3	chr7:101457812-101457862	SAEC	small airway:	n/a
4	chr7:101457812-101457862	SK-N-MC	brain:	n/a
5	chr7:101457812-101457862	U87	brain:	n/a
6	chr7:101457812-101457862	AG04450	lung:	fetal
7	chr7:101457812-101457862	SK-N-SH	brain:	n/a
8	chr7:101457812-101457862	GM12878	blood:	n/a
9	chr7:101457812-101457862	NHDF-neo	bronchial:	n/a
10	chr7:101457812-101457862	K562	blood:	n/a
11	chr7:101457812-101457862	ProgFib	skin:	n/a
12	chr7:101457812-101457862	GM19239	blood:	n/a
13	chr7:101457812-101457862	H1-hESC	embryonic stem cell:	embryo
14	chr7:101457812-101457862	A549	lung:	n/a
15	chr7:101457812-101457862	MCF10A-Er-Src	breast:	n/a
16	chr7:101457812-101457862	AG04449	skin:	fetal
17	chr7:101457812-101457862	AG10803	skin:	n/a
18	chr7:101457812-101457862	GM12892	blood:	n/a
19	chr7:101457812-101457862	BJ	skin:	n/a
20	chr7:101457812-101457862	ECC-1	luminal epithelium:	n/a
21	chr7:101457812-101457862	Jurkat	blood:	n/a
22	chr7:101457812-101457862	HIPEpiC	eye:	n/a
23	chr7:101457812-101457862	HepG2	liver:	n/a
24	chr7:101457812-101457862	HCF	heart:	n/a
25	chr7:101457812-101457862	SKMC	muscle:	n/a
26	chr7:101457812-101457862	HCM	heart:	n/a
27	chr7:101457812-101457862	HCPEpiC	choroid plexus:	n/a
28	chr7:101457812-101457862	NH-A	brain:	n/a
29	chr7:101457812-101457862	PFSK-1	brain:	n/a
30	chr7:101457812-101457862	AG09309	skin:	n/a
31	chr7:101457812-101457862	HRCEpiC	kidney:	n/a
32	chr7:101457812-101457862	IMR90	lung:	fetal
33	chr7:101457812-101457862	HEK293	kidney:	embryo
34	chr7:101457812-101457862	PANC-1	pancreas:	n/a
35	chr7:101457812-101457862	GM12891	blood:	n/a
36	chr7:101457812-101457862	HCT-116	colon:	n/a
37	chr7:101457812-101457862	HRPEpiC	eye:	n/a
38	chr7:101457812-101457862	RPTEC	kidney:	n/a
39	chr7:101457812-101457862	AoSMC	blood vessel:	n/a
40	chr7:101457812-101457862	ovcar-3	ovarian:	n/a
41	chr7:101457812-101457862	BE2_C	brain:	n/a
42	chr7:101457812-101457862	Hepatocyte	liver:	n/a
43	chr7:101457812-101457862	GM06990	blood:	n/a
44	chr7:101457812-101457862	HRE	kidney:	n/a
45	chr7:101457812-101457862	HAEpiC	amniotic membrane:	n/a
46	chr7:101457812-101457862	T-47D	breast:	n/a
47	chr7:101457812-101457862	CMK	blood:	n/a
48	chr7:101457812-101457862	MCF-7	breast:	n/a
49	chr7:101457812-101457862	HMEC	breast:	n/a
50	chr7:101457812-101457862	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101331355..101332298-chr7:101457115..101458094,12	MCF-7	breast:
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	chr1:156084197..156084939-chr7:101457529..101458250,2	Hela-S3	cervix:
8	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
9	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
10	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
11	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
12	chr7:101245522..101246394-chr7:101457419..101458061,2	K562	blood:
13	chr1:6268950..6269450-chr7:101457184..101457840,2	MCF-7	breast:
14	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
15	chr12:56572158..56573016-chr7:101457560..101458297,2	Hela-S3	cervix:
16	chr7:101185071..101186578-chr7:101457268..101458103,4	MCF-7	breast:
17	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
18	chr11:134527652..134528152-chr7:101457119..101458073,2	K562	blood:
19	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
20	chr1:201682650..201683305-chr7:101457575..101458388,2	Hela-S3	cervix:
21	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
22	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
23	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
24	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000136159	Chromatin interaction
ENSG00000116251	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000160789	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000259294	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000160963	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000106436	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:126 , 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	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
7	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
8	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
10	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
14	chr7:101457000-101461400	Active TSS	Ovary	ovary
15	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
16	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
18	chr7:101457200-101458400	Active TSS	Right Ventricle	heart
19	chr7:101457200-101458800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:101457200-101458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:101457200-101458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:101457200-101459400	Active TSS	A549	lung
23	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
28	chr7:101457200-101461000	Active TSS	Thymus	Thymus
29	chr7:101457200-101461200	Active TSS	Aorta	Aorta
30	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:101457200-101461800	Active TSS	Right Atrium	heart
34	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
35	chr7:101457400-101458000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:101457400-101458000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr7:101457400-101458000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:101457400-101458000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr7:101457400-101458200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:101457400-101458400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:101457400-101458400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:101457400-101458400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:101457400-101458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr7:101457400-101458600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr7:101457400-101458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:101457400-101458800	Flanking Active TSS	Liver	Liver
47	chr7:101457400-101460800	Active TSS	Spleen	Spleen
48	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
49	chr7:101457400-101461000	Active TSS	Lung	lung
50	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon

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