Variant report

Variant	esv1838776
Chromosome Location	chr7:4152089-4167991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:794)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:4164281-4164504	HepG2	liver:	n/a	chr7:4164348-4164359 chr7:4164347-4164358
2	CEBPB	chr7:4164261-4164462	A549	lung:	n/a	chr7:4164348-4164359 chr7:4164347-4164358
3	FOS	chr7:4162868-4163863	HUVEC	blood vessel:	n/a	chr7:4163664-4163675
4	GATA2	chr7:4163439-4163848	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr7:4158468-4158558	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:4159828-4160145	SH-SY5Y	brain:	n/a	n/a
7	KAP1	chr7:4159892-4160147	HEK293	kidney:	n/a	n/a
8	MAFK	chr7:4164315-4164391	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:4153040-4153045	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:4155998-4156107	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:4156016-4156040	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:4153839-4153914	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:4156289-4156301	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:4161319-4161334	MCF10A-Er-Src	breast:	n/a	n/a
15	SETDB1	chr7:4159532-4160223	U2OS	brain:	n/a	n/a
16	SRF	chr7:4156931-4157043	GM12878	blood:	n/a	n/a
17	STAT3	chr7:4156561-4156696	MCF10A-Er-Src	breast:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4153732-4153782	PrEC	prostate:	n/a
2	chr7:4153732-4153782	PrEC	prostate:	n/a
3	chr7:4153732-4153782	CMK	blood:	n/a
4	chr7:4167809-4167859	AG10803	skin:	n/a
5	chr7:4167882-4167932	HEEpiC	esophagus:	n/a
6	chr7:4152953-4153003	HMEC	breast:	n/a
7	chr7:4167607-4167657	AG10803	skin:	n/a
8	chr7:4167411-4167461	Hepatocyte	liver:	n/a
9	chr7:4157691-4157741	SK-N-MC	brain:	n/a
10	chr7:4153919-4153969	MCF10A-Er-Src	breast:	n/a
11	chr7:4153732-4153782	SK-N-MC	brain:	n/a
12	chr7:4167943-4167993	CMK	blood:	n/a
13	chr7:4153707-4153757	HNPCEpiC	eye:	n/a
14	chr7:4153868-4153918	AG10803	skin:	n/a
15	chr7:4167607-4167657	HEK293	kidney:	embryo
16	chr7:4153868-4153918	AG04450	lung:	fetal
17	chr7:4153707-4153757	HAEpiC	amniotic membrane:	n/a
18	chr7:4153732-4153782	MCF10A-Er-Src	breast:	n/a
19	chr7:4153767-4153817	NHDF-neo	bronchial:	n/a
20	chr7:4153868-4153918	U87	brain:	n/a
21	chr7:4152953-4153003	NHBE	bronchial:	n/a
22	chr7:4153732-4153782	NT2-D1	testis:	n/a
23	chr7:4152976-4153026	Hepatocyte	liver:	n/a
24	chr7:4152976-4153026	HCF	heart:	n/a
25	chr7:4152953-4153003	NHDF-neo	bronchial:	n/a
26	chr7:4152953-4153003	NH-A	brain:	n/a
27	chr7:4167607-4167657	NT2-D1	testis:	n/a
28	chr7:4167809-4167859	HCT-116	colon:	n/a
29	chr7:4153732-4153782	ovcar-3	ovarian:	n/a
30	chr7:4167411-4167461	HepG2	liver:	n/a
31	chr7:4153732-4153782	ECC-1	luminal epithelium:	n/a
32	chr7:4152976-4153026	HRE	kidney:	n/a
33	chr7:4157691-4157741	AG10803	skin:	n/a
34	chr7:4157691-4157741	Hela-S3	cervix:	n/a
35	chr7:4152953-4153003	HRCEpiC	kidney:	n/a
36	chr7:4167809-4167859	AG09309	skin:	n/a
37	chr7:4167943-4167993	GM12891	blood:	n/a
38	chr7:4152976-4153026	AG09309	skin:	n/a
39	chr7:4167943-4167993	HepG2	liver:	n/a
40	chr7:4153707-4153757	ovcar-3	ovarian:	n/a
41	chr7:4153868-4153918	SK-N-SH_RA	brain:	n/a
42	chr7:4167882-4167932	K562	blood:	n/a
43	chr7:4153732-4153782	SAEC	small airway:	n/a
44	chr7:4153919-4153969	NHDF-neo	bronchial:	n/a
45	chr7:4167411-4167461	PFSK-1	brain:	n/a
46	chr7:4152976-4153026	AG04449	skin:	fetal
47	chr7:4152976-4153026	SK-N-SH	brain:	n/a
48	chr7:4152953-4153003	MCF-7	breast:	n/a
49	chr7:4153919-4153969	LNCaP	prostate:	n/a
50	chr7:4153732-4153782	AG09319	gingival:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4159770..4161422-chr7:4162793..4165151,2	K562	blood:
2	chr7:4149016..4150999-chr7:4154652..4156380,2	K562	blood:
3	chr7:4159770..4161422-chr7:4162793..4165151,2	K562	blood:

No data

Variant related genes	Relation type
SDK1	TF binding region
SDK1	CpG island

Extended variants
information (count: 910 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1062213	chr7:4152089-4152090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560176300	chr7:4152124-4152125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370936855	chr7:4152127-4152128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529070354	chr7:4152133-4152134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570717009	chr7:4152146-4152147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555868355	chr7:4152182-4152183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577791999	chr7:4152198-4152199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531488094	chr7:4152255-4152256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551135087	chr7:4152279-4152280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74610730	chr7:4152353-4152354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79669416	chr7:4152356-4152357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180710983	chr7:4152380-4152381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568469182	chr7:4152390-4152391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10637008	chr7:4152391-4152392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567338685	chr7:4152402-4152403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199815590	chr7:4152432-4152433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185130641	chr7:4152442-4152443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555979572	chr7:4152462-4152463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569610018	chr7:4152473-4152474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538529580	chr7:4152500-4152501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558122546	chr7:4152538-4152539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577979800	chr7:4152543-4152544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190771313	chr7:4152549-4152550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574045378	chr7:4152569-4152570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573775442	chr7:4152574-4152575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542449058	chr7:4152591-4152592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117032361	chr7:4152594-4152595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148464073	chr7:4152604-4152605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111240432	chr7:4152615-4152616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545297174	chr7:4152632-4152633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372159222	chr7:4152655-4152656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200780910	chr7:4152665-4152666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544428562	chr7:4152675-4152676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182223730	chr7:4152678-4152679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562727334	chr7:4152683-4152684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560997723	chr7:4152750-4152751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186894138	chr7:4152812-4152813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141742046	chr7:4152848-4152849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569478508	chr7:4152849-4152850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538016269	chr7:4152857-4152858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552069584	chr7:4152862-4152863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6956409	chr7:4152863-4152864	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374274539	chr7:4152891-4152892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368027991	chr7:4152892-4152893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529592028	chr7:4152897-4152898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113050866	chr7:4152904-4152905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112624190	chr7:4152907-4152908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371584777	chr7:4152909-4152910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199789474	chr7:4152943-4152944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147777906	chr7:4152962-4152963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4119400-4153000	Weak transcription	Gastric	stomach
2	chr7:4132400-4180200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:4142200-4153400	Weak transcription	Fetal Lung	lung
4	chr7:4142400-4158800	Weak transcription	Fetal Brain Female	brain
5	chr7:4144000-4153600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:4144800-4153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:4145200-4155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:4147000-4155200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:4147600-4153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:4147800-4156400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:4148200-4153200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:4148600-4158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:4148800-4153000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:4148800-4153600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4149200-4154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:4150000-4157000	Strong transcription	Pancreas	Pancrea
17	chr7:4150400-4154400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:4150600-4152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:4150600-4153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:4150600-4153000	Weak transcription	Spleen	Spleen
21	chr7:4150800-4152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:4150800-4152800	Weak transcription	Esophagus	oesophagus
23	chr7:4151000-4153600	Weak transcription	Aorta	Aorta
24	chr7:4151200-4153600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:4151200-4153600	Weak transcription	Fetal Stomach	stomach
26	chr7:4151200-4153600	Weak transcription	Thymus	Thymus
27	chr7:4151400-4158000	Weak transcription	Adipose Nuclei	Adipose
28	chr7:4151600-4153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:4151800-4158800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:4152000-4153800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:4152000-4162400	Weak transcription	Left Ventricle	heart
32	chr7:4152200-4155800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:4152400-4153600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:4152800-4154600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:4152800-4155000	Enhancers	Esophagus	oesophagus
36	chr7:4153000-4154400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:4153000-4154600	Strong transcription	Gastric	stomach
38	chr7:4153000-4154800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:4153000-4154800	Strong transcription	Spleen	Spleen
40	chr7:4153200-4153600	Enhancers	Fetal Muscle Leg	muscle
41	chr7:4153200-4153800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:4153400-4154600	Strong transcription	Fetal Lung	lung
43	chr7:4153600-4153800	Strong transcription	Fetal Intestine Small	intestine
44	chr7:4153600-4154000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:4153600-4154000	ZNF genes & repeats	Aorta	Aorta
46	chr7:4153600-4154000	ZNF genes & repeats	Thymus	Thymus
47	chr7:4153600-4154200	Strong transcription	Fetal Stomach	stomach
48	chr7:4153600-4154400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:4153600-4154400	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:4153600-4154600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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