Variant report

Variant	rs562812005
Chromosome Location	chr7:101457742-101457743
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	CBX3	chr7:101457349-101457748	K562	blood:	n/a	n/a
3	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
4	CTCF	chr7:101457374-101457772	K562	blood:	n/a	chr7:101457575-101457593
5	RCOR1	chr7:101457339-101459438	K562	blood:	n/a	n/a
6	ELF1	chr7:101457236-101457945	GM12878	blood:	n/a	chr7:101457613-101457625
7	YY1	chr7:101457383-101457761	HepG2	liver:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
8	CTCF	chr7:101457452-101457794	NHEK	skin:	n/a	chr7:101457575-101457593
9	GABPA	chr7:101457388-101457896	K562	blood:	n/a	chr7:101457528-101457537
10	MAX	chr7:101457221-101459008	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
11	RFX5	chr7:101456872-101458425	Hela-S3	cervix:	n/a	n/a
12	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
13	POLR2A	chr7:101457364-101457969	MCF-7	breast:	n/a	n/a
14	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
15	POLR2A	chr7:101457363-101457854	Hela-S3	cervix:	n/a	n/a
16	YY1	chr7:101457392-101457778	K562	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
17	HEY1	chr7:101457353-101458058	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
18	ZBTB7A	chr7:101457263-101457756	ECC-1	luminal epithelium:	n/a	n/a
19	ZBTB7A	chr7:101457217-101457851	ECC-1	luminal epithelium:	n/a	n/a
20	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
21	POLR2A	chr7:101457364-101457888	HepG2	liver:	n/a	n/a
22	MYC	chr7:101457348-101458402	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
23	CTCF	chr7:101457443-101457782	Gliobla	brain:	n/a	chr7:101457575-101457593
24	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
25	CTCF	chr7:101457452-101457751	Hela-S3	cervix:	n/a	chr7:101457575-101457593
26	YY1	chr7:101457388-101457972	GM12878	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
27	CTCF	chr7:101457441-101457802	Spleen_OC	spleen:	n/a	chr7:101457575-101457593
28	CTCF	chr7:101457476-101457773	GM20000	blood:	n/a	chr7:101457575-101457593
29	SMARCB1	chr7:101457316-101457933	Hela-S3	cervix:	n/a	n/a
30	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
31	ELK1	chr7:101457545-101457868	K562	blood:	n/a	n/a
32	MYC	chr7:101457321-101457897	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
33	HDAC2	chr7:101457369-101457782	K562	blood:	n/a	n/a
34	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
35	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
36	HA-E2F1	chr7:101457317-101457854	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
37	POLR2A	chr7:101457333-101457893	K562	blood:	n/a	n/a
38	CTCF	chr7:101457390-101457754	A549	lung:	n/a	chr7:101457575-101457593
39	FOXP2	chr7:101457382-101457841	PFSK-1	brain:	n/a	n/a
40	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr7:101457350-101457760	HepG2	liver:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
42	POLR2A	chr7:101457416-101457844	ProgFib	skin:	n/a	n/a
43	RCOR1	chr7:101456952-101458359	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr7:101457371-101457907	K562	blood:	n/a	n/a
45	CTCF	chr7:101457449-101457771	GM19240	blood:	n/a	chr7:101457575-101457593
46	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
47	RAD21	chr7:101457371-101457753	A549	lung:	n/a	chr7:101457573-101457592 chr7:101457575-101457587
48	RAD21	chr7:101457411-101457850	GM12878	blood:	n/a	chr7:101457573-101457592 chr7:101457575-101457587
49	YY1	chr7:101457387-101457784	GM12878	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
50	CTCF	chr7:101457385-101457854	IMR90	lung:	n/a	chr7:101457575-101457593

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	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
10	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
11	chr7:101245522..101246394-chr7:101457419..101458061,2	K562	blood:
12	chr1:6268950..6269450-chr7:101457184..101457840,2	MCF-7	breast:
13	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
14	chr12:56572158..56573016-chr7:101457560..101458297,2	Hela-S3	cervix:
15	chr7:101185071..101186578-chr7:101457268..101458103,4	MCF-7	breast:
16	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
17	chr11:134527652..134528152-chr7:101457119..101458073,2	K562	blood:
18	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
19	chr1:201682650..201683305-chr7:101457575..101458388,2	Hela-S3	cervix:
20	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
21	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
22	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
23	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000160789	Chromatin interaction
ENSG00000259294	Chromatin interaction
ENSG00000116251	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000106436	Chromatin interaction
ENSG00000160963	Chromatin interaction
ENSG00000259577	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:124 , 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	chr7:101457000-101457800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:101457000-101457800	Active TSS	GM12878-XiMat	blood
5	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
9	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
10	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
12	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
16	chr7:101457000-101461400	Active TSS	Ovary	ovary
17	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
18	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
20	chr7:101457200-101457800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:101457200-101457800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:101457200-101457800	Active TSS	Primary T cells from cord blood	blood
23	chr7:101457200-101457800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:101457200-101457800	Active TSS	Brain Hippocampus Middle	brain
25	chr7:101457200-101457800	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:101457200-101457800	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr7:101457200-101457800	Active TSS	Fetal Intestine Small	intestine
28	chr7:101457200-101457800	Weak transcription	Stomach Mucosa	stomach
29	chr7:101457200-101457800	Active TSS	K562	blood
30	chr7:101457200-101457800	Active TSS	Osteobl	bone
31	chr7:101457200-101458400	Active TSS	Right Ventricle	heart
32	chr7:101457200-101458800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:101457200-101458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr7:101457200-101458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr7:101457200-101459400	Active TSS	A549	lung
36	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
41	chr7:101457200-101461000	Active TSS	Thymus	Thymus
42	chr7:101457200-101461200	Active TSS	Aorta	Aorta
43	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
45	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:101457200-101461800	Active TSS	Right Atrium	heart
47	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
48	chr7:101457400-101457800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:101457400-101457800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:101457400-101457800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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