Variant report

Variant	rs397949810
Chromosome Location	chr7:101457498-101457499
allele	-/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	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	MYC	chr7:101457468-101457624	MCF10A-Er-Src	breast:	n/a	chr7:101457525-101457536
12	RFX5	chr7:101456872-101458425	Hela-S3	cervix:	n/a	n/a
13	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
14	POLR2A	chr7:101457364-101457969	MCF-7	breast:	n/a	n/a
15	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
16	MAZ	chr7:101457434-101457712	HepG2	liver:	n/a	chr7:101457525-101457536
17	E2F4	chr7:101456804-101457613	MCF10A-Er-Src	breast:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
18	POLR2A	chr7:101457458-101457695	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:101457363-101457854	Hela-S3	cervix:	n/a	n/a
20	YY1	chr7:101457392-101457778	K562	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
21	HEY1	chr7:101457353-101458058	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
22	ZBTB7A	chr7:101457263-101457756	ECC-1	luminal epithelium:	n/a	n/a
23	ZBTB7A	chr7:101457217-101457851	ECC-1	luminal epithelium:	n/a	n/a
24	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
25	EGR1	chr7:101457443-101457665	GM12878	blood:	n/a	n/a
26	CTCF	chr7:101457400-101457550	GM12864	blood:	n/a	n/a
27	POLR2A	chr7:101457364-101457888	HepG2	liver:	n/a	n/a
28	MYC	chr7:101457348-101458402	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
29	CTCF	chr7:101457443-101457782	Gliobla	brain:	n/a	chr7:101457575-101457593
30	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
31	CTCF	chr7:101457452-101457751	Hela-S3	cervix:	n/a	chr7:101457575-101457593
32	YY1	chr7:101457388-101457972	GM12878	blood:	n/a	chr7:101457497-101457511 chr7:101457590-101457599
33	CTCF	chr7:101457488-101457684	Medullo	brain:	n/a	chr7:101457575-101457593
34	CTCF	chr7:101457441-101457802	Spleen_OC	spleen:	n/a	chr7:101457575-101457593
35	CTCF	chr7:101457464-101457720	Kidney_OC	kidney:	n/a	chr7:101457575-101457593
36	CTCF	chr7:101457476-101457773	GM20000	blood:	n/a	chr7:101457575-101457593
37	SMARCB1	chr7:101457316-101457933	Hela-S3	cervix:	n/a	n/a
38	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
39	CTCF	chr7:101457460-101457610	HUVEC	blood vessel:	n/a	chr7:101457575-101457593
40	MYC	chr7:101457321-101457897	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
41	CTCF	chr7:101457439-101457667	ECC-1	luminal epithelium:	n/a	chr7:101457575-101457593
42	BHLHE40	chr7:101457373-101457700	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
43	HDAC2	chr7:101457369-101457782	K562	blood:	n/a	n/a
44	HA-E2F1	chr7:101457317-101457854	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
45	POLR2A	chr7:101457333-101457893	K562	blood:	n/a	n/a
46	CTCF	chr7:101457390-101457754	A549	lung:	n/a	chr7:101457575-101457593
47	FOXP2	chr7:101457382-101457841	PFSK-1	brain:	n/a	n/a
48	USF1	chr7:101457393-101457659	SK-N-SH_RA	brain:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
49	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr7:101457350-101457760	HepG2	liver:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379

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	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
4	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
5	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
6	chr7:101245522..101246394-chr7:101457419..101458061,2	K562	blood:
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	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
13	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
14	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
15	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
16	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000259294	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000116251	Chromatin interaction
ENSG00000160963	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101456600-101457600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:101457000-101457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:101457000-101457600	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:101457000-101457600	Active TSS	HMEC	breast
7	chr7:101457000-101457600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:101457000-101457600	Active TSS	NHEK	skin
9	chr7:101457000-101457800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:101457000-101457800	Active TSS	GM12878-XiMat	blood
11	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
15	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
16	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
18	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
22	chr7:101457000-101461400	Active TSS	Ovary	ovary
23	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
24	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
26	chr7:101457200-101457600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr7:101457200-101457600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:101457200-101457600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:101457200-101457600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr7:101457200-101457600	Active TSS	Primary B cells from cord blood	blood
31	chr7:101457200-101457600	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:101457200-101457600	Active TSS	Primary hematopoietic stem cells	blood
33	chr7:101457200-101457600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:101457200-101457600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:101457200-101457600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:101457200-101457600	Active TSS	Adipose Nuclei	Adipose
37	chr7:101457200-101457600	Active TSS	Colonic Mucosa	Colon
38	chr7:101457200-101457600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:101457200-101457600	Active TSS	Psoas Muscle	Psoas
40	chr7:101457200-101457600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:101457200-101457600	Active TSS	HUVEC	blood vessel
42	chr7:101457200-101457800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:101457200-101457800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:101457200-101457800	Active TSS	Primary T cells from cord blood	blood
45	chr7:101457200-101457800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:101457200-101457800	Active TSS	Brain Hippocampus Middle	brain
47	chr7:101457200-101457800	Active TSS	Duodenum Mucosa	Duodenum
48	chr7:101457200-101457800	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr7:101457200-101457800	Active TSS	Fetal Intestine Small	intestine
50	chr7:101457200-101457800	Weak transcription	Stomach Mucosa	stomach

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