Variant report

Variant	rs12539667
Chromosome Location	chr7:101457378-101457379
allele	A/C
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	CBX3	chr7:101457349-101457748	K562	blood:	n/a	n/a
2	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
3	CTCF	chr7:101457374-101457772	K562	blood:	n/a	chr7:101457575-101457593
4	RCOR1	chr7:101457339-101459438	K562	blood:	n/a	n/a
5	ELF1	chr7:101457236-101457945	GM12878	blood:	n/a	chr7:101457613-101457625
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	E2F4	chr7:101456804-101457613	MCF10A-Er-Src	breast:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
12	POLR2A	chr7:101457363-101457854	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr7:101457353-101458058	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
14	ZBTB7A	chr7:101457263-101457756	ECC-1	luminal epithelium:	n/a	n/a
15	ZBTB7A	chr7:101457217-101457851	ECC-1	luminal epithelium:	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	SMARCB1	chr7:101457316-101457933	Hela-S3	cervix:	n/a	n/a
20	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
21	MYC	chr7:101457321-101457897	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
22	BHLHE40	chr7:101457373-101457700	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
23	HDAC2	chr7:101457369-101457782	K562	blood:	n/a	n/a
24	HA-E2F1	chr7:101457317-101457854	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
25	POLR2A	chr7:101457333-101457893	K562	blood:	n/a	n/a
26	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr7:101457350-101457760	HepG2	liver:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
28	USF1	chr7:101457369-101457737	SK-N-SH	brain:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
29	TEAD4	chr7:101457372-101457657	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT1	chr7:101457174-101457683	GM12878	blood:	n/a	chr7:101457365-101457377 chr7:101457369-101457381
31	RCOR1	chr7:101456952-101458359	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr7:101457371-101457907	K562	blood:	n/a	n/a
33	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
34	RAD21	chr7:101457371-101457753	A549	lung:	n/a	chr7:101457573-101457592 chr7:101457575-101457587
35	POLR2A	chr7:101457373-101457975	HL-60	blood:	n/a	n/a
36	RAD21	chr7:101457111-101457812	SK-N-SH_RA	brain:	n/a	chr7:101457347-101457361 chr7:101457573-101457592 chr7:101457575-101457587
37	E2F6	chr7:101457172-101458704	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
38	MYC	chr7:101457231-101459329	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
39	E2F6	chr7:101457372-101457759	K562	blood:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
40	POLR2A	chr7:101457243-101457833	HCT-116	colon:	n/a	n/a
41	RAD21	chr7:101457368-101457783	SK-N-SH_RA	brain:	n/a	chr7:101457573-101457592 chr7:101457575-101457587
42	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
43	MYC	chr7:101457367-101458471	MCF10A-Er-Src	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
44	MAZ	chr7:101457102-101457946	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
45	POLR2A	chr7:101457378-101457805	A549	lung:	n/a	n/a
46	TBP	chr7:101456617-101457482	Hela-S3	cervix:	n/a	n/a
47	BHLHE40	chr7:101457347-101457733	A549	lung:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
48	EBF1	chr7:101457307-101457881	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr7:101457343-101457989	K562	blood:	n/a	n/a
50	HDAC2	chr7:101457356-101458045	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101457359-101457409	ECC-1	luminal epithelium:	n/a
2	chr7:101457359-101457409	SKMC	muscle:	n/a
3	chr7:101457359-101457409	A549	lung:	n/a
4	chr7:101457359-101457409	NH-A	brain:	n/a
5	chr7:101457359-101457409	HUVEC	blood vessel:	n/a
6	chr7:101457359-101457409	HCPEpiC	choroid plexus:	n/a
7	chr7:101457359-101457409	HCT-116	colon:	n/a
8	chr7:101457359-101457409	PANC-1	pancreas:	n/a
9	chr7:101457359-101457409	GM12878	blood:	n/a
10	chr7:101457359-101457409	AG04449	skin:	fetal
11	chr7:101457359-101457409	RPTEC	kidney:	n/a
12	chr7:101457359-101457409	HCM	heart:	n/a
13	chr7:101457359-101457409	AG04450	lung:	fetal
14	chr7:101457359-101457409	HL-60	blood:	n/a
15	chr7:101457359-101457409	HEK293	kidney:	embryo
16	chr7:101457359-101457409	HNPCEpiC	eye:	n/a
17	chr7:101457359-101457409	SK-N-SH	brain:	n/a
18	chr7:101457359-101457409	Caco-2	colon:	n/a
19	chr7:101457359-101457409	GM12892	blood:	n/a
20	chr7:101457359-101457409	HIPEpiC	eye:	n/a
21	chr7:101457359-101457409	GM06990	blood:	n/a
22	chr7:101457359-101457409	ovcar-3	ovarian:	n/a
23	chr7:101457359-101457409	MCF10A-Er-Src	breast:	n/a
24	chr7:101457359-101457409	IMR90	lung:	fetal
25	chr7:101457359-101457409	HRCEpiC	kidney:	n/a
26	chr7:101457359-101457409	HRPEpiC	eye:	n/a
27	chr7:101457359-101457409	HCF	heart:	n/a
28	chr7:101457359-101457409	HAEpiC	amniotic membrane:	n/a
29	chr7:101457359-101457409	HepG2	liver:	n/a
30	chr7:101457359-101457409	SK-N-MC	brain:	n/a
31	chr7:101457359-101457409	T-47D	breast:	n/a
32	chr7:101457359-101457409	AG10803	skin:	n/a
33	chr7:101457359-101457409	PFSK-1	brain:	n/a
34	chr7:101457359-101457409	NHDF-neo	bronchial:	n/a
35	chr7:101457359-101457409	Hela-S3	cervix:	n/a
36	chr7:101457359-101457409	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:101457359-101457409	MCF-7	breast:	n/a
38	chr7:101457359-101457409	BJ	skin:	n/a
39	chr7:101457359-101457409	SK-N-SH_RA	brain:	n/a
40	chr7:101457359-101457409	ProgFib	skin:	n/a
41	chr7:101457359-101457409	NHBE	bronchial:	n/a
42	chr7:101457359-101457409	AG09319	gingival:	n/a
43	chr7:101457359-101457409	AoSMC	blood vessel:	n/a
44	chr7:101457359-101457409	NB4	blood:	n/a
45	chr7:101457359-101457409	Hepatocyte	liver:	n/a
46	chr7:101457359-101457409	NT2-D1	testis:	n/a
47	chr7:101457359-101457409	U87	brain:	n/a
48	chr7:101457359-101457409	AG09309	skin:	n/a
49	chr7:101457359-101457409	LNCaP	prostate:	n/a
50	chr7:101457359-101457409	CMK	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	chr7:101451313..101452903-chr7:101455577..101457484,2	K562	blood:
4	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
5	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
6	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
7	chr1:6268950..6269450-chr7:101457184..101457840,2	MCF-7	breast:
8	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
9	chr7:101185071..101186578-chr7:101457268..101458103,4	MCF-7	breast:
10	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
11	chr11:134527652..134528152-chr7:101457119..101458073,2	K562	blood:
12	chr7:101338626..101341236-chr7:101455601..101457433,2	K562	blood:
13	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
14	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
15	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
16	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
17	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000160963	Chromatin interaction
ENSG00000116251	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000259294	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101436800-101457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101456400-101457400	Enhancers	Small Intestine	intestine
3	chr7:101456600-101457400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:101456600-101457600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:101456800-101457400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:101456800-101457400	Enhancers	Liver	Liver
7	chr7:101456800-101457400	Enhancers	Fetal Thymus	thymus
8	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:101457000-101457400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:101457000-101457400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:101457000-101457400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:101457000-101457400	Enhancers	HepG2	liver
14	chr7:101457000-101457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:101457000-101457600	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:101457000-101457600	Active TSS	HMEC	breast
17	chr7:101457000-101457600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:101457000-101457600	Active TSS	NHEK	skin
19	chr7:101457000-101457800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:101457000-101457800	Active TSS	GM12878-XiMat	blood
21	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
25	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
26	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
28	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
32	chr7:101457000-101461400	Active TSS	Ovary	ovary
33	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
34	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
36	chr7:101457200-101457400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:101457200-101457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:101457200-101457400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr7:101457200-101457400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:101457200-101457400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:101457200-101457400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr7:101457200-101457400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr7:101457200-101457400	Weak transcription	Placenta	Placenta
44	chr7:101457200-101457400	Flanking Active TSS	Fetal Stomach	stomach
45	chr7:101457200-101457400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:101457200-101457400	Flanking Active TSS	NH-A	brain
47	chr7:101457200-101457600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr7:101457200-101457600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:101457200-101457600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:101457200-101457600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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