Variant report

Variant	rs73697401
Chromosome Location	chr7:63386791-63386792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr7:63385957-63387047	SK-N-SH	brain:	n/a	n/a
2	MAX	chr7:63385504-63387649	MCF-7	breast:	n/a	chr7:63385721-63385728 chr7:63386200-63386210 chr7:63385718-63385729
3	MYC	chr7:63385983-63387499	MCF-7	breast:	n/a	chr7:63386200-63386210
4	FOXA1	chr7:63386371-63386909	T-47D	breast:	n/a	n/a
5	CTCF	chr7:63386756-63386911	Kidney_OC	kidney:	n/a	n/a
6	EP300	chr7:63386518-63386954	T-47D	breast:	n/a	n/a
7	MYC	chr7:63386309-63387010	K562	blood:	n/a	n/a
8	SIX5	chr7:63386302-63386931	K562	blood:	n/a	n/a
9	MAX	chr7:63385475-63387520	SK-N-SH	brain:	n/a	chr7:63385721-63385728 chr7:63386200-63386210 chr7:63385718-63385729
10	MAX	chr7:63385853-63387639	MCF-7	breast:	n/a	chr7:63386200-63386210
11	ELF1	chr7:63386033-63387026	SK-N-SH	brain:	n/a	n/a
12	YY1	chr7:63385731-63387240	SK-N-SH_RA	brain:	n/a	chr7:63386199-63386208
13	MXI1	chr7:63384040-63387855	SK-N-SH	brain:	n/a	n/a
14	USF1	chr7:63386620-63386921	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:63386766-63386877	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:63385688-63387601	MCF-7	breast:	n/a	n/a
17	ETS1	chr7:63386472-63386856	K562	blood:	n/a	n/a
18	ESR1	chr7:63386607-63386841	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr7:63386745-63386887	Lung_OC	lung:	n/a	n/a
20	EP300	chr7:63386530-63387006	SK-N-SH_RA	brain:	n/a	n/a
21	SIN3AK20	chr7:63385550-63387631	MCF-7	breast:	n/a	n/a
22	MAZ	chr7:63386308-63387056	K562	blood:	n/a	n/a
23	CTCF	chr7:63386743-63386901	Spleen_OC	spleen:	n/a	n/a
24	IRF1	chr7:63386638-63386963	K562	blood:	n/a	n/a
25	TBL1XR1	chr7:63386447-63386879	K562	blood:	n/a	n/a
26	MYC	chr7:63386598-63386911	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:63385675-63387503	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:63386780-63386930	SK-N-SH_RA	brain:	n/a	n/a
29	HA-E2F1	chr7:63386357-63387687	MCF-7	breast:	n/a	n/a
30	GABPA	chr7:63385950-63387216	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:63386751-63387174	ProgFib	skin:	n/a	n/a
32	SIX5	chr7:63386545-63386873	GM12878	blood:	n/a	n/a
33	TCF7L2	chr7:63386285-63386855	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr7:63385766-63387245	PANC-1	pancreas:	n/a	n/a
35	YY1	chr7:63385774-63387301	SK-N-SH	brain:	n/a	chr7:63386199-63386208
36	TBP	chr7:63386578-63386874	K562	blood:	n/a	n/a
37	CTCF	chr7:63386720-63386870	MCF-7	breast:	n/a	n/a
38	CREB1	chr7:63386611-63386917	GM12878	blood:	n/a	n/a
39	ELF1	chr7:63385712-63387580	MCF-7	breast:	n/a	chr7:63387073-63387085
40	USF1	chr7:63386564-63386934	SK-N-SH_RA	brain:	n/a	n/a
41	ETS1	chr7:63386636-63386820	K562	blood:	n/a	n/a
42	POLR2A	chr7:63385604-63387427	SK-N-SH	brain:	n/a	n/a
43	ZNF143	chr7:63386256-63387112	K562	blood:	n/a	n/a
44	ZNF143	chr7:63386456-63387016	GM12878	blood:	n/a	n/a
45	MYC	chr7:63385923-63387041	MCF-7	breast:	n/a	chr7:63386200-63386210
46	ELF1	chr7:63386191-63387135	MCF-7	breast:	n/a	chr7:63387073-63387085
47	HMGN3	chr7:63386639-63387103	K562	blood:	n/a	n/a
48	CTCF	chr7:63386730-63386895	MCF-7	breast:	n/a	n/a
49	HCFC1	chr7:63386253-63387045	K562	blood:	n/a	n/a
50	NRF1	chr7:63385762-63387773	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63386748-63386798	IMR90	lung:	fetal
2	chr7:63386748-63386798	LNCaP	prostate:	n/a
3	chr7:63386748-63386798	NB4	blood:	n/a
4	chr7:63386748-63386798	HCPEpiC	choroid plexus:	n/a
5	chr7:63386748-63386798	HIPEpiC	eye:	n/a
6	chr7:63386748-63386798	ovcar-3	ovarian:	n/a
7	chr7:63386748-63386798	HEK293	kidney:	embryo
8	chr7:63386748-63386798	PANC-1	pancreas:	n/a
9	chr7:63386748-63386798	BJ	skin:	n/a
10	chr7:63386748-63386798	HL-60	blood:	n/a
11	chr7:63386748-63386798	GM12878	blood:	n/a
12	chr7:63386748-63386798	NT2-D1	testis:	n/a
13	chr7:63386748-63386798	K562	blood:	n/a
14	chr7:63386748-63386798	ProgFib	skin:	n/a
15	chr7:63386748-63386798	HUVEC	blood vessel:	n/a
16	chr7:63386748-63386798	HCM	heart:	n/a
17	chr7:63386748-63386798	GM12892	blood:	n/a
18	chr7:63386748-63386798	BE2_C	brain:	n/a
19	chr7:63386748-63386798	SK-N-SH	brain:	n/a
20	chr7:63386748-63386798	HCT-116	colon:	n/a
21	chr7:63386748-63386798	SKMC	muscle:	n/a
22	chr7:63386748-63386798	Caco-2	colon:	n/a
23	chr7:63386748-63386798	GM06990	blood:	n/a
24	chr7:63386748-63386798	SK-N-MC	brain:	n/a
25	chr7:63386748-63386798	NHBE	bronchial:	n/a
26	chr7:63386748-63386798	Jurkat	blood:	n/a
27	chr7:63386748-63386798	Hepatocyte	liver:	n/a
28	chr7:63386748-63386798	NHDF-neo	bronchial:	n/a
29	chr7:63386748-63386798	HRCEpiC	kidney:	n/a
30	chr7:63386748-63386798	MCF-7	breast:	n/a
31	chr7:63386748-63386798	T-47D	breast:	n/a
32	chr7:63386748-63386798	HEEpiC	esophagus:	n/a
33	chr7:63386748-63386798	HNPCEpiC	eye:	n/a
34	chr7:63386748-63386798	GM12891	blood:	n/a
35	chr7:63386748-63386798	AG10803	skin:	n/a
36	chr7:63386748-63386798	AG09309	skin:	n/a
37	chr7:63386748-63386798	NH-A	brain:	n/a
38	chr7:63386748-63386798	HepG2	liver:	n/a
39	chr7:63386748-63386798	AoSMC	blood vessel:	n/a
40	chr7:63386748-63386798	HMEC	breast:	n/a
41	chr7:63386748-63386798	AG09319	gingival:	n/a
42	chr7:63386748-63386798	HCF	heart:	n/a
43	chr7:63386748-63386798	AG04449	skin:	fetal
44	chr7:63386748-63386798	HAEpiC	amniotic membrane:	n/a
45	chr7:63386748-63386798	H1-hESC	embryonic stem cell:	embryo
46	chr7:63386748-63386798	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:63386748-63386798	CMK	blood:	n/a
48	chr7:63386748-63386798	GM19239	blood:	n/a
49	chr7:63386748-63386798	RPTEC	kidney:	n/a
50	chr7:63386748-63386798	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63360688..63363246-chr7:63384808..63387419,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227910	TF binding region
ENSG00000265017	TF binding region
SLC25A1P3	TF binding region
ENSG00000265017	CpG island
SLC25A1P3	CpG island
ENSG00000227910	CpG island
ENSG00000263891	Chromatin interaction
ENSG00000226581	Chromatin interaction
ENSG00000236299	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10227110	0.89[AMR][1000 genomes]
rs10231140	0.89[AFR][1000 genomes]
rs10234872	0.88[AFR][1000 genomes]
rs10248861	0.83[AFR][1000 genomes]
rs10256598	0.89[AFR][1000 genomes]
rs10260831	0.96[AFR][1000 genomes]
rs10263526	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267402	0.89[AFR][1000 genomes]
rs10269997	0.88[AFR][1000 genomes]
rs10271537	0.87[AFR][1000 genomes]
rs10271841	0.84[AFR][1000 genomes]
rs10276713	0.89[AFR][1000 genomes]
rs28602599	0.87[AFR][1000 genomes]
rs28647499	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55860679	0.96[AFR][1000 genomes]
rs55876824	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55957720	0.86[AFR][1000 genomes]
rs73697390	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	esv3365963	chr7:63367092-63587809	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	esv3496812	chr7:63367459-63649196	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3496813	chr7:63367459-63649196	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv3336155	chr7:63368772-63650552	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv966816	chr7:63376622-63390937	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
12	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63385200-63387200	Active TSS	Primary hematopoietic stem cells	blood
2	chr7:63385400-63387200	Active TSS	Brain Hippocampus Middle	brain
3	chr7:63385400-63387400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr7:63385400-63387400	Active TSS	Brain Anterior Caudate	brain
5	chr7:63385400-63387400	Active TSS	Brain Substantia Nigra	brain
6	chr7:63385400-63387400	Active TSS	Ovary	ovary
7	chr7:63385400-63387400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:63385400-63387600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:63385400-63387800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:63385400-63387800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:63385400-63388000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr7:63385600-63387200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:63385600-63387200	Active TSS	Esophagus	oesophagus
14	chr7:63385600-63387200	Active TSS	Pancreas	Pancrea
15	chr7:63385600-63387200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:63385600-63387400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:63385600-63387400	Active TSS	Primary T cells from cord blood	blood
18	chr7:63385600-63387400	Active TSS	Colon Smooth Muscle	Colon
19	chr7:63385600-63387400	Active TSS	Duodenum Mucosa	Duodenum
20	chr7:63385600-63387400	Active TSS	Gastric	stomach
21	chr7:63385600-63387400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:63385600-63387400	Active TSS	K562	blood
23	chr7:63385600-63387600	Active TSS	Colonic Mucosa	Colon
24	chr7:63385600-63387600	Active TSS	Left Ventricle	heart
25	chr7:63385600-63387600	Active TSS	Right Atrium	heart
26	chr7:63385600-63387800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:63385600-63387800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:63385600-63387800	ZNF genes & repeats	Fetal Stomach	stomach
29	chr7:63385600-63387800	Active TSS	Rectal Smooth Muscle	rectum
30	chr7:63385600-63388000	ZNF genes & repeats	Fetal Thymus	thymus
31	chr7:63385800-63387000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:63385800-63387400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:63385800-63387400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:63385800-63387400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:63385800-63387400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:63385800-63387400	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr7:63385800-63387400	ZNF genes & repeats	Thymus	Thymus
38	chr7:63385800-63387600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:63385800-63387600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:63385800-63387600	Active TSS	Aorta	Aorta
41	chr7:63385800-63387600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:63385800-63387600	Active TSS	Lung	lung
43	chr7:63385800-63387600	Active TSS	Psoas Muscle	Psoas
44	chr7:63385800-63387600	Active TSS	NHEK	skin
45	chr7:63386000-63387200	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:63386000-63387200	Active TSS	Primary B cells from cord blood	blood
47	chr7:63386000-63387200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr7:63386000-63387200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:63386000-63387200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:63386000-63387200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links