Variant report

Variant	rs369968836
Chromosome Location	chr7:101458731-101458732
allele	G/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	RAD21	chr7:101458580-101459449	H1-hESC	embryonic stem cell:	n/a	chr7:101458932-101458951 chr7:101458924-101458936
6	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
7	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
8	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
9	ZBTB7A	chr7:101458341-101459015	HepG2	liver:	n/a	chr7:101459001-101459012 chr7:101458935-101458944 chr7:101458977-101458991
10	EP300	chr7:101457932-101458865	A549	lung:	n/a	n/a
11	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
12	MYC	chr7:101458346-101458939	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:101458572-101458735	MCF-7	breast:	n/a	n/a
14	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
15	MTA3	chr7:101457928-101458760	GM12878	blood:	n/a	n/a
16	BCLAF1	chr7:101458272-101458826	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
19	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr7:101458435-101459005	K562	blood:	n/a	n/a
21	POLR2A	chr7:101458389-101458818	GM12878	blood:	n/a	n/a
22	NFIC	chr7:101458018-101458764	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
24	POLR2A	chr7:101458114-101459617	K562	blood:	n/a	n/a
25	POLR2A	chr7:101458251-101460393	GM18951	blood:	n/a	n/a
26	YY1	chr7:101458526-101459768	GM12878	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 chr7:101459626-101459635 chr7:101459196-101459205 chr7:101459602-101459621 chr7:101459190-101459204 chr7:101459597-101459619 chr7:101459191-101459202 chr7:101459190-101459199
27	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
28	TBL1XR1	chr7:101458265-101458958	K562	blood:	n/a	n/a
29	POLR2A	chr7:101458194-101458863	HL-60	blood:	n/a	n/a
30	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
31	CCNT2	chr7:101458354-101459570	K562	blood:	n/a	chr7:101459541-101459550 chr7:101458875-101458884 chr7:101458998-101459007
32	MAX	chr7:101458098-101459024	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:101458238-101459666	MCF-7	breast:	n/a	n/a
34	HEY1	chr7:101458082-101458978	K562	blood:	n/a	n/a
35	MYC	chr7:101457231-101459329	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
36	ZBTB7A	chr7:101458581-101459045	HepG2	liver:	n/a	chr7:101459001-101459012 chr7:101458935-101458944 chr7:101458977-101458991
37	ELF1	chr7:101458389-101459037	K562	blood:	n/a	chr7:101458917-101458929 chr7:101458903-101458915
38	TAL1	chr7:101458717-101458908	K562	blood:	n/a	n/a
39	POLR2A	chr7:101458216-101459008	HCT-116	colon:	n/a	n/a
40	POLR2A	chr7:101457542-101459674	H1-neurons	neurons:	n/a	n/a
41	SMC3	chr7:101458721-101459364	K562	blood:	n/a	n/a
42	CTCF	chr7:101458660-101459088	K562	blood:	n/a	chr7:101458936-101458949 chr7:101458934-101458952
43	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
44	EGR1	chr7:101458437-101459014	ECC-1	luminal epithelium:	n/a	chr7:101458877-101458887 chr7:101458876-101458889 chr7:101458680-101458690 chr7:101458876-101458889 chr7:101458875-101458890 chr7:101458685-101458694 chr7:101458680-101458690 chr7:101458871-101458881 chr7:101458674-101458696 chr7:101458876-101458889 chr7:101458680-101458691 chr7:101458678-101458692 chr7:101458877-101458886 chr7:101458680-101458691 chr7:101458679-101458692
45	SIN3AK20	chr7:101458437-101458999	PANC-1	pancreas:	n/a	n/a
46	EGR1	chr7:101458107-101459043	HCT-116	colon:	n/a	chr7:101458877-101458887 chr7:101458876-101458889 chr7:101458680-101458690 chr7:101458876-101458889 chr7:101458875-101458890 chr7:101458685-101458694 chr7:101458680-101458690 chr7:101458871-101458881 chr7:101458674-101458696 chr7:101458876-101458889 chr7:101458680-101458691 chr7:101458678-101458692 chr7:101458877-101458886 chr7:101458680-101458691 chr7:101458679-101458692
47	POLR2A	chr7:101458320-101458902	MCF-7	breast:	n/a	n/a
48	RAD21	chr7:101458709-101459034	A549	lung:	n/a	chr7:101458932-101458951 chr7:101458924-101458936
49	TAF1	chr7:101458461-101459457	K562	blood:	n/a	n/a
50	POLR2A	chr7:101458391-101458890	GM12878	blood:	n/a	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	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
8	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
9	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
10	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
11	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
12	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
13	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
14	chr2:207024339..207026427-chr7:101458417..101459962,2	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000259577	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000124181	Chromatin interaction
ENSG00000265345	Chromatin interaction
ENSG00000114942	Chromatin interaction
ENSG00000106436	Chromatin interaction
ENSG00000160963	Chromatin interaction
ENSG00000226648	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000114626	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000259294	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000069966	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	chr7:101457400-101458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:101457400-101458800	Flanking Active TSS	Liver	Liver
34	chr7:101457400-101460800	Active TSS	Spleen	Spleen
35	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
36	chr7:101457400-101461000	Active TSS	Lung	lung
37	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr7:101457400-101461200	Active TSS	Gastric	stomach
39	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
40	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
41	chr7:101457400-101461400	Active TSS	NHLF	lung
42	chr7:101457600-101458800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:101457600-101458800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:101457600-101458800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:101457600-101458800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr7:101457600-101458800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:101457600-101458800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:101457600-101458800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr7:101457600-101458800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr7:101457600-101458800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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