Variant report

Variant	rs571129598
Chromosome Location	chr7:126987618-126987619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:126987611-126988315	A549	lung:	n/a	n/a
2	USF1	chr7:126987523-126987846	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr7:126987575-126988289	K562	blood:	n/a	n/a
4	USF1	chr7:126987450-126987902	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr7:126987532-126988131	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:126987501-126988625	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr7:126987554-126988316	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:126987524-126988415	SK-N-SH	brain:	n/a	n/a
9	TBL1XR1	chr7:126987595-126987935	K562	blood:	n/a	n/a
10	CTCF	chr7:126987560-126987710	NHEK	skin:	n/a	n/a
11	MXI1	chr7:126987369-126989289	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:126987571-126988435	MCF-7	breast:	n/a	n/a
13	ATF3	chr7:126987603-126988067	K562	blood:	n/a	n/a
14	CTCF	chr7:126987604-126988040	K562	blood:	n/a	n/a
15	BHLHE40	chr7:126987588-126988333	K562	blood:	n/a	n/a
16	MAX	chr7:126987594-126988241	A549	lung:	n/a	n/a
17	UBTF	chr7:126987600-126988340	K562	blood:	n/a	n/a
18	CBX3	chr7:126987442-126988067	K562	blood:	n/a	n/a
19	CTCF	chr7:126987612-126988089	GM12891	blood:	n/a	n/a
20	RUNX3	chr7:126987576-126988047	GM12878	blood:	n/a	n/a
21	MAX	chr7:126987537-126988293	ECC-1	luminal epithelium:	n/a	n/a
22	E2F4	chr7:126987561-126988338	K562	blood:	n/a	n/a
23	CTCF	chr7:126987517-126988720	A549	lung:	n/a	n/a
24	EGR1	chr7:126987535-126987971	K562	blood:	n/a	n/a
25	CTCF	chr7:126987434-126988981	SK-N-SH	brain:	n/a	n/a
26	MYC	chr7:126987614-126988359	K562	blood:	n/a	n/a
27	CCNT2	chr7:126987613-126988330	K562	blood:	n/a	n/a
28	SMC3	chr7:126987466-126988450	SK-N-SH	brain:	n/a	n/a
29	USF2	chr7:126987545-126988048	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr7:126987586-126988355	K562	blood:	n/a	n/a
31	POLR2A	chr7:126987609-126988376	K562	blood:	n/a	n/a
32	CTCF	chr7:126987580-126987730	HRE	kidney:	n/a	n/a
33	POLR2A	chr7:126987533-126987869	SK-N-MC	brain:	n/a	n/a
34	RAD21	chr7:126987605-126988196	A549	lung:	n/a	n/a
35	MAX	chr7:126987571-126988273	HepG2	liver:	n/a	n/a
36	MAX	chr7:126987476-126988347	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:126987120-126988402	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:126987618-126988444	K562	blood:	n/a	n/a
39	MAX	chr7:126987526-126988171	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:126987580-126987730	GM06990	blood:	n/a	n/a
41	HA-E2F1	chr7:126987564-126988364	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:126987523-126988280	K562	blood:	n/a	n/a
43	CTCF	chr7:126987586-126988184	K562	blood:	n/a	n/a
44	MYC	chr7:126987555-126988280	K562	blood:	n/a	n/a
45	POLR2A	chr7:126987544-126988404	HL-60	blood:	n/a	n/a
46	CTCF	chr7:126987560-126987710	AoAF	blood vessel:	n/a	n/a
47	MAX	chr7:126987534-126988229	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr7:126987588-126988142	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:126987612-126988324	Hela-S3	cervix:	n/a	n/a
50	MAX	chr7:126987462-126988480	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
2	chr7:126986399..126988206-chr7:127024325..127027237,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126987461..126988081-chr7:127049072..127050341,3	MCF-7	breast:
5	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
6	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
7	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
8	chr7:126987395..126988347-chr7:127156521..127157053,2	K562	blood:
9	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
10	chr7:126987414..126988399-chr7:127154646..127155519,3	MCF-7	breast:
11	chr7:126986706..126988243-chr7:127024325..127027268,2	K562	blood:
12	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
13	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
14	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
15	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3418280	chr7:126987216-126989064	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126986400-126988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:126987000-126988200	Enhancers	Gastric	stomach
4	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:126987000-126988400	Enhancers	Placenta	Placenta
6	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:126987200-126995400	Weak transcription	Dnd41	blood
9	chr7:126987600-126987800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr7:126987600-126987800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:126987600-126987800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:126987600-126987800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:126987600-126987800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:126987600-126987800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr7:126987600-126987800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr7:126987600-126987800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
20	chr7:126987600-126987800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr7:126987600-126987800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:126987600-126987800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:126987600-126987800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr7:126987600-126987800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:126987600-126987800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:126987600-126987800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:126987600-126987800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:126987600-126987800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:126987600-126987800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:126987600-126987800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:126987600-126987800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:126987600-126987800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:126987600-126987800	Flanking Active TSS	Aorta	Aorta
37	chr7:126987600-126987800	Flanking Active TSS	Liver	Liver
38	chr7:126987600-126987800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr7:126987600-126987800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr7:126987600-126987800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr7:126987600-126987800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr7:126987600-126987800	Flanking Active TSS	Lung	lung
48	chr7:126987600-126987800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:126987600-126987800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:126987600-126987800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon

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