Variant report

Variant	esv3417738
Chromosome Location	chr7:56241108-56244206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:550)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:56243620-56243770	HepG2	liver:	n/a	n/a
2	CTCF	chr7:56243600-56243750	HRE	kidney:	n/a	n/a
3	CTCF	chr7:56243540-56243690	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr7:56243580-56243730	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr7:56243620-56243770	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr7:56243560-56243710	HRE	kidney:	n/a	n/a
7	EGR1	chr7:56242712-56242884	K562	blood:	n/a	chr7:56242766-56242775 chr7:56242875-56242884
8	ELF1	chr7:56242371-56242625	K562	blood:	n/a	n/a
9	GATA3	chr7:56243375-56243802	T-47D	breast:	n/a	n/a
10	HMGN3	chr7:56242531-56242740	K562	blood:	n/a	n/a
11	MAX	chr7:56242770-56243228	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr7:56242941-56242991	K562	blood:	n/a	n/a
13	REST	chr7:56243613-56243896	SK-N-SH	brain:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56242142-56242192	Jurkat	blood:	n/a
2	chr7:56242142-56242192	Jurkat	blood:	n/a
3	chr7:56242801-56242851	HEK293	kidney:	embryo
4	chr7:56242142-56242192	HCF	heart:	n/a
5	chr7:56242142-56242192	HCPEpiC	choroid plexus:	n/a
6	chr7:56242554-56242604	MCF-7	breast:	n/a
7	chr7:56243297-56243347	NH-A	brain:	n/a
8	chr7:56241697-56241747	NHBE	bronchial:	n/a
9	chr7:56242554-56242604	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:56242181-56242231	AG10803	skin:	n/a
11	chr7:56242407-56242457	AG10803	skin:	n/a
12	chr7:56243524-56243574	RPTEC	kidney:	n/a
13	chr7:56242072-56242122	HCT-116	colon:	n/a
14	chr7:56243524-56243574	SAEC	small airway:	n/a
15	chr7:56243297-56243347	NHBE	bronchial:	n/a
16	chr7:56242181-56242231	HIPEpiC	eye:	n/a
17	chr7:56242554-56242604	A549	lung:	n/a
18	chr7:56242142-56242192	BE2_C	brain:	n/a
19	chr7:56242554-56242604	HMEC	breast:	n/a
20	chr7:56242072-56242122	Jurkat	blood:	n/a
21	chr7:56243524-56243574	AG04450	lung:	fetal
22	chr7:56243524-56243574	Jurkat	blood:	n/a
23	chr7:56242801-56242851	LNCaP	prostate:	n/a
24	chr7:56242142-56242192	HRE	kidney:	n/a
25	chr7:56242072-56242122	Hela-S3	cervix:	n/a
26	chr7:56242554-56242604	NHBE	bronchial:	n/a
27	chr7:56241697-56241747	NB4	blood:	n/a
28	chr7:56242554-56242604	HAEpiC	amniotic membrane:	n/a
29	chr7:56242072-56242122	IMR90	lung:	fetal
30	chr7:56242181-56242231	HL-60	blood:	n/a
31	chr7:56242142-56242192	SAEC	small airway:	n/a
32	chr7:56241697-56241747	SK-N-SH	brain:	n/a
33	chr7:56242142-56242192	BJ	skin:	n/a
34	chr7:56242554-56242604	NH-A	brain:	n/a
35	chr7:56242407-56242457	SK-N-MC	brain:	n/a
36	chr7:56242554-56242604	PrEC	prostate:	n/a
37	chr7:56243524-56243574	IMR90	lung:	fetal
38	chr7:56242142-56242192	AG04450	lung:	fetal
39	chr7:56242181-56242231	HCPEpiC	choroid plexus:	n/a
40	chr7:56243524-56243574	A549	lung:	n/a
41	chr7:56241697-56241747	U87	brain:	n/a
42	chr7:56242554-56242604	HNPCEpiC	eye:	n/a
43	chr7:56242554-56242604	RPTEC	kidney:	n/a
44	chr7:56242072-56242122	GM06990	blood:	n/a
45	chr7:56242554-56242604	PANC-1	pancreas:	n/a
46	chr7:56242407-56242457	T-47D	breast:	n/a
47	chr7:56242554-56242604	HEEpiC	esophagus:	n/a
48	chr7:56242554-56242604	SK-N-MC	brain:	n/a
49	chr7:56243524-56243574	HAEpiC	amniotic membrane:	n/a
50	chr7:56242554-56242604	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-9	chr7:56243327-56244105	NONHSAT120737

No data

Variant related genes	Relation type
ENSG00000233028	TF binding region
ENSG00000233028	CpG island

Extended variants
information (count: 99 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558754412	chr7:56241164-56241165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577352520	chr7:56241182-56241183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537970822	chr7:56241213-56241214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139098270	chr7:56241230-56241231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140817962	chr7:56241256-56241257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2462386	chr7:56241277-56241278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113881767	chr7:56241283-56241284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560488619	chr7:56241304-56241305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370903347	chr7:56241326-56241327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574148684	chr7:56241334-56241335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565089264	chr7:56241390-56241391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535617912	chr7:56241393-56241394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532304086	chr7:56241412-56241413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373754283	chr7:56241413-56241414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182610494	chr7:56241471-56241472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562561824	chr7:56241472-56241473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73347839	chr7:56241474-56241475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201873527	chr7:56241480-56241481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149892574	chr7:56241504-56241505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112085942	chr7:56241532-56241533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1965521	chr7:56241623-56241624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370151544	chr7:56241626-56241627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1965522	chr7:56241632-56241633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570980373	chr7:56241653-56241654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191611195	chr7:56241671-56241672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556393099	chr7:56241703-56241704	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs1640579	chr7:56241713-56241714	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1640578	chr7:56241718-56241719	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369082567	chr7:56241736-56241737	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs10227354	chr7:56241762-56241763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2110260	chr7:56241800-56241801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs3070469	chr7:56241868-56241869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397838281	chr7:56241870-56241871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114399330	chr7:56241903-56241904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112308130	chr7:56241960-56241961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370465861	chr7:56242046-56242047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540552251	chr7:56242070-56242071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184472872	chr7:56242170-56242171	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs62459310	chr7:56242182-56242183	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188363029	chr7:56242246-56242247	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562538119	chr7:56242310-56242311	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529824954	chr7:56242314-56242315	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547865168	chr7:56242325-56242326	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2430222	chr7:56242442-56242443	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545269379	chr7:56242443-56242444	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs527239935	chr7:56242444-56242445	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs77973440	chr7:56242463-56242464	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111786194	chr7:56242478-56242479	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571089907	chr7:56242531-56242532	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2430223	chr7:56242584-56242585	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56239200-56242000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:56241000-56242200	Weak transcription	Adipose Nuclei	Adipose
3	chr7:56242000-56242600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr7:56242000-56243800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56242200-56242400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr7:56242200-56242400	Enhancers	Adipose Nuclei	Adipose
7	chr7:56242200-56243000	Enhancers	Pancreas	Pancrea
8	chr7:56242200-56243400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:56242200-56243400	ZNF genes & repeats	Lung	lung
10	chr7:56242200-56243600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:56242200-56244000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:56242400-56242600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:56242400-56242600	Enhancers	Ovary	ovary
14	chr7:56242400-56242800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:56242400-56242800	Flanking Active TSS	Right Ventricle	heart
16	chr7:56242400-56243000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr7:56242400-56243000	Active TSS	Right Atrium	heart
18	chr7:56242400-56243000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:56242400-56243200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:56242400-56243400	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr7:56242400-56243400	Active TSS	Gastric	stomach
22	chr7:56242400-56243600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr7:56242400-56243600	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:56242400-56243800	Active TSS	Aorta	Aorta
25	chr7:56242400-56243800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr7:56242400-56243800	ZNF genes & repeats	Spleen	Spleen
27	chr7:56242400-56244000	Active TSS	Colon Smooth Muscle	Colon
28	chr7:56242400-56244000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Placenta	Placenta
35	chr7:56242600-56242800	Flanking Active TSS	Ovary	ovary
36	chr7:56242600-56242800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
37	chr7:56242600-56243000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr7:56242600-56243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:56242600-56243000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:56242600-56243400	ZNF genes & repeats	Esophagus	oesophagus
41	chr7:56242600-56243400	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr7:56242600-56243400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
43	chr7:56242600-56243600	Active TSS	Brain Cingulate Gyrus	brain
44	chr7:56242600-56243800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr7:56242600-56243800	Active TSS	Brain Substantia Nigra	brain
46	chr7:56242600-56243800	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr7:56242600-56243800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:56242600-56243800	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr7:56242600-56243800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:56242600-56243800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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