Variant report

Variant	rs72555717
Chromosome Location	chr7:33102656-33102657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr7:33102598-33102910	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:33101062-33103342	MCF10A-Er-Src	breast:	n/a	n/a
3	BCL3	chr7:33102469-33103085	A549	lung:	n/a	chr7:33102865-33102878 chr7:33102511-33102524
4	REST	chr7:33102524-33102996	K562	blood:	n/a	chr7:33102585-33102598
5	POLR2A	chr7:33101988-33103150	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr7:33101793-33103205	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr7:33101640-33103304	K562	blood:	n/a	n/a
8	POLR2A	chr7:33102105-33103070	HepG2	liver:	n/a	n/a
9	TEAD4	chr7:33101539-33103023	K562	blood:	n/a	n/a
10	POLR2A	chr7:33101867-33103192	PFSK-1	brain:	n/a	n/a
11	PML	chr7:33101717-33103183	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:33101743-33103099	HEK293	kidney:	n/a	n/a
13	TBP	chr7:33102236-33103176	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:33101794-33103093	GM18526	blood:	n/a	n/a
15	POLR2A	chr7:33102039-33103064	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:33101925-33103114	GM12878	blood:	n/a	n/a
17	MAX	chr7:33102603-33102923	H1-hESC	embryonic stem cell:	n/a	n/a
18	WRNIP1	chr7:33102654-33102955	GM12878	blood:	n/a	n/a
19	EP300	chr7:33102547-33102890	HepG2	liver:	n/a	n/a
20	MXI1	chr7:33100937-33103082	GM12878	blood:	n/a	chr7:33101819-33101828
21	POLR2A	chr7:33101611-33103076	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr7:33102159-33102942	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:33101958-33103151	U87	brain:	n/a	n/a
24	NFIC	chr7:33102447-33103028	HepG2	liver:	n/a	n/a
25	MYC	chr7:33101927-33102956	MCF-7	breast:	n/a	n/a
26	SP1	chr7:33101993-33103036	A549	lung:	n/a	chr7:33102662-33102672 chr7:33102475-33102485 chr7:33102520-33102530 chr7:33102663-33102672 chr7:33102662-33102671 chr7:33102475-33102485 chr7:33102661-33102673 chr7:33102847-33102856 chr7:33102662-33102671 chr7:33102520-33102530 chr7:33102661-33102673
27	ZNF143	chr7:33102343-33103045	H1-hESC	embryonic stem cell:	n/a	chr7:33102742-33102760
28	SIN3AK20	chr7:33102581-33103038	A549	lung:	n/a	n/a
29	TAF1	chr7:33102142-33103019	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr7:33101626-33103105	NB4	blood:	n/a	n/a
31	HEY1	chr7:33102043-33103013	HepG2	liver:	n/a	chr7:33102862-33102877
32	SIX5	chr7:33102412-33102976	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:33102096-33103104	HCT-116	colon:	n/a	n/a
34	POLR2A	chr7:33101676-33103030	Hela-S3	cervix:	n/a	n/a
35	FOXM1	chr7:33101921-33103213	GM12878	blood:	n/a	n/a
36	HEY1	chr7:33101972-33103070	K562	blood:	n/a	chr7:33102862-33102877
37	MAX	chr7:33101518-33103117	MCF-7	breast:	n/a	n/a
38	SIN3A	chr7:33102568-33103039	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:33102091-33103021	GM12891	blood:	n/a	n/a
40	MAX	chr7:33101673-33103205	K562	blood:	n/a	n/a
41	MBD4	chr7:33102413-33102831	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:33101855-33103147	GM19099	blood:	n/a	n/a
43	E2F6	chr7:33101655-33102856	K562	blood:	n/a	chr7:33101788-33101800
44	POLR2A	chr7:33101945-33103063	HepG2	liver:	n/a	n/a
45	NR2F2	chr7:33102435-33102838	K562	blood:	n/a	n/a
46	E2F6	chr7:33102273-33102905	A549	lung:	n/a	n/a
47	ETS1	chr7:33102292-33103018	K562	blood:	n/a	chr7:33102740-33102753 chr7:33102872-33102881
48	TAF1	chr7:33102218-33103022	K562	blood:	n/a	n/a
49	CHD2	chr7:33102229-33102983	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:33102225-33103111	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:33102655-33102705	Jurkat	blood:	n/a
2	chr7:33102655-33102705	GM19239	blood:	n/a
3	chr7:33102655-33102705	AG09319	gingival:	n/a
4	chr7:33102655-33102705	HEK293	kidney:	embryo
5	chr7:33102655-33102705	Hepatocyte	liver:	n/a
6	chr7:33102655-33102705	GM12878	blood:	n/a
7	chr7:33102655-33102705	HNPCEpiC	eye:	n/a
8	chr7:33102655-33102705	HRCEpiC	kidney:	n/a
9	chr7:33102655-33102705	MCF-7	breast:	n/a
10	chr7:33102655-33102705	LNCaP	prostate:	n/a
11	chr7:33102655-33102705	A549	lung:	n/a
12	chr7:33102655-33102705	HCF	heart:	n/a
13	chr7:33102655-33102705	ovcar-3	ovarian:	n/a
14	chr7:33102655-33102705	PANC-1	pancreas:	n/a
15	chr7:33102655-33102705	NHBE	bronchial:	n/a
16	chr7:33102655-33102705	AoSMC	blood vessel:	n/a
17	chr7:33102655-33102705	SK-N-SH	brain:	n/a
18	chr7:33102655-33102705	GM12892	blood:	n/a
19	chr7:33102655-33102705	NB4	blood:	n/a
20	chr7:33102655-33102705	ECC-1	luminal epithelium:	n/a
21	chr7:33102655-33102705	K562	blood:	n/a
22	chr7:33102655-33102705	HepG2	liver:	n/a
23	chr7:33102655-33102705	NHDF-neo	bronchial:	n/a
24	chr7:33102655-33102705	HUVEC	blood vessel:	n/a
25	chr7:33102655-33102705	U87	brain:	n/a
26	chr7:33102655-33102705	AG04450	lung:	fetal
27	chr7:33102655-33102705	GM06990	blood:	n/a
28	chr7:33102655-33102705	SK-N-SH_RA	brain:	n/a
29	chr7:33102655-33102705	RPTEC	kidney:	n/a
30	chr7:33102655-33102705	T-47D	breast:	n/a
31	chr7:33102655-33102705	IMR90	lung:	fetal
32	chr7:33102655-33102705	CMK	blood:	n/a
33	chr7:33102655-33102705	SK-N-MC	brain:	n/a
34	chr7:33102655-33102705	HRE	kidney:	n/a
35	chr7:33102655-33102705	HAEpiC	amniotic membrane:	n/a
36	chr7:33102655-33102705	HCPEpiC	choroid plexus:	n/a
37	chr7:33102655-33102705	ProgFib	skin:	n/a
38	chr7:33102655-33102705	BJ	skin:	n/a
39	chr7:33102655-33102705	MCF10A-Er-Src	breast:	n/a
40	chr7:33102655-33102705	NT2-D1	testis:	n/a
41	chr7:33102655-33102705	PFSK-1	brain:	n/a
42	chr7:33102655-33102705	AG10803	skin:	n/a
43	chr7:33102655-33102705	PrEC	prostate:	n/a
44	chr7:33102655-33102705	HMEC	breast:	n/a
45	chr7:33102655-33102705	H1-hESC	embryonic stem cell:	embryo
46	chr7:33102655-33102705	HEEpiC	esophagus:	n/a
47	chr7:33102655-33102705	HCM	heart:	n/a
48	chr7:33102655-33102705	BE2_C	brain:	n/a
49	chr7:33102655-33102705	GM12891	blood:	n/a
50	chr7:33102655-33102705	Caco-2	colon:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10875465..10876365-chr7:33101971..33102799,2	NB4	blood:
2	chr1:173991349..173992097-chr7:33102107..33102993,2	Hela-S3	cervix:
3	chr19:33462734..33463246-chr7:33101987..33102859,2	HCT-116	colon:
4	chr7:32931143..32934134-chr7:33099467..33103532,3	MCF-7	breast:
5	chr10:102759176..102759720-chr7:33102303..33102826,2	HCT-116	colon:
6	chr7:32930611..32935175-chr7:33099257..33103988,8	MCF-7	breast:
7	chr7:32995362..32998530-chr7:33097317..33102837,7	MCF-7	breast:
8	chr7:33100859..33104943-chr7:33146945..33149986,6	MCF-7	breast:
9	chr7:33101766..33103971-chr7:33147720..33150417,2	K562	blood:
10	chr7:32981117..32983868-chr7:33100044..33104533,5	K562	blood:
11	chr7:33101689..33103789-chr7:33147448..33149100,2	MCF-7	breast:
12	chr7:33101592..33103439-chr7:33148174..33150339,2	K562	blood:

No data

Variant related genes	Relation type
NT5C3A	TF binding region
NT5C3A	CpG island
ENSG00000164610	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000122642	Chromatin interaction
ENSG00000107816	Chromatin interaction
ENSG00000121289	Chromatin interaction
ENSG00000131944	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000060138	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6462452	1.00[AMR][1000 genomes]
rs6462457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953386	1.00[AMR][1000 genomes]
rs6954660	1.00[AMR][1000 genomes]
rs6964996	1.00[AMR][1000 genomes]
rs6968844	1.00[AFR][1000 genomes]
rs72555741	1.00[AMR][1000 genomes]
rs7788623	1.00[AMR][1000 genomes]
rs7809021	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3443773	chr7:33101252-33103800	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:33100200-33103600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:33100400-33103000	Active TSS	GM12878-XiMat	blood
3	chr7:33100400-33103400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr7:33100400-33103400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:33100600-33103400	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:33100600-33103600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:33100600-33103600	Active TSS	NHLF	lung
8	chr7:33100800-33103200	Active TSS	Fetal Intestine Small	intestine
9	chr7:33100800-33103400	Active TSS	Fetal Intestine Large	intestine
10	chr7:33100800-33103400	Active TSS	Ovary	ovary
11	chr7:33100800-33103400	Active TSS	NHDF-Ad	bronchial
12	chr7:33100800-33103600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:33100800-33103800	Active TSS	K562	blood
14	chr7:33101000-33103000	Active TSS	Hela-S3	cervix
15	chr7:33101000-33103000	Active TSS	NHEK	skin
16	chr7:33101000-33103200	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:33101000-33103200	Active TSS	Aorta	Aorta
18	chr7:33101000-33103200	Active TSS	A549	lung
19	chr7:33101000-33103400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:33101000-33103400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:33101000-33103400	Active TSS	Colonic Mucosa	Colon
22	chr7:33101000-33103600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:33101000-33103600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:33101200-33102800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:33101200-33102800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:33101200-33102800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:33101200-33103000	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:33101200-33103000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr7:33101200-33103000	Active TSS	Fetal Brain Female	brain
30	chr7:33101200-33103000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:33101200-33103000	Active TSS	Thymus	Thymus
32	chr7:33101200-33103200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:33101200-33103200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:33101200-33103200	Active TSS	Fetal Muscle Leg	muscle
35	chr7:33101200-33103200	Active TSS	Fetal Stomach	stomach
36	chr7:33101200-33103200	Active TSS	Left Ventricle	heart
37	chr7:33101200-33103200	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:33101200-33103200	Bivalent/Poised TSS	HepG2	liver
39	chr7:33101200-33103200	Active TSS	HMEC	breast
40	chr7:33101200-33103400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:33101200-33103400	Active TSS	Fetal Muscle Trunk	muscle
42	chr7:33101200-33103400	Active TSS	Psoas Muscle	Psoas
43	chr7:33101200-33103400	Active TSS	Right Ventricle	heart
44	chr7:33101200-33103600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:33101200-33103600	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:33101200-33103600	Active TSS	Brain Germinal Matrix	brain
47	chr7:33101200-33103600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:33101200-33103800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:33101200-33104000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:33101400-33102800	Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links