Variant report

Variant	esv1837019
Chromosome Location	chr7:4158394-4167991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:307)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 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	chr7:4159828-4160145	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:4158468-4158558	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	chr7:4161319-4161334	MCF10A-Er-Src	breast:	n/a	n/a
10	SETDB1	chr7:4159532-4160223	U2OS	brain:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4167882-4167932	A549	lung:	n/a
2	chr7:4167882-4167932	GM12891	blood:	n/a
3	chr7:4167882-4167932	A549	lung:	n/a
4	chr7:4167882-4167932	GM12891	blood:	n/a
5	chr7:4167809-4167859	T-47D	breast:	n/a
6	chr7:4167943-4167993	NHBE	bronchial:	n/a
7	chr7:4167882-4167932	NH-A	brain:	n/a
8	chr7:4167943-4167993	PANC-1	pancreas:	n/a
9	chr7:4167809-4167859	GM12892	blood:	n/a
10	chr7:4167607-4167657	GM19239	blood:	n/a
11	chr7:4167882-4167932	HEK293	kidney:	embryo
12	chr7:4167607-4167657	HRE	kidney:	n/a
13	chr7:4167411-4167461	U87	brain:	n/a
14	chr7:4167607-4167657	HCT-116	colon:	n/a
15	chr7:4167411-4167461	AG09309	skin:	n/a
16	chr7:4167943-4167993	HL-60	blood:	n/a
17	chr7:4167882-4167932	PrEC	prostate:	n/a
18	chr7:4167943-4167993	ECC-1	luminal epithelium:	n/a
19	chr7:4167607-4167657	AG04449	skin:	fetal
20	chr7:4167411-4167461	AG04449	skin:	fetal
21	chr7:4167607-4167657	Jurkat	blood:	n/a
22	chr7:4167411-4167461	HRCEpiC	kidney:	n/a
23	chr7:4167607-4167657	NT2-D1	testis:	n/a
24	chr7:4167607-4167657	MCF-7	breast:	n/a
25	chr7:4167411-4167461	BE2_C	brain:	n/a
26	chr7:4167411-4167461	HCF	heart:	n/a
27	chr7:4167411-4167461	HepG2	liver:	n/a
28	chr7:4167607-4167657	HEEpiC	esophagus:	n/a
29	chr7:4167809-4167859	GM12878	blood:	n/a
30	chr7:4167809-4167859	ProgFib	skin:	n/a
31	chr7:4167809-4167859	HL-60	blood:	n/a
32	chr7:4167411-4167461	A549	lung:	n/a
33	chr7:4167943-4167993	Hepatocyte	liver:	n/a
34	chr7:4167943-4167993	GM06990	blood:	n/a
35	chr7:4167882-4167932	ProgFib	skin:	n/a
36	chr7:4167943-4167993	GM12878	blood:	n/a
37	chr7:4167809-4167859	BE2_C	brain:	n/a
38	chr7:4167809-4167859	HEEpiC	esophagus:	n/a
39	chr7:4167809-4167859	HCM	heart:	n/a
40	chr7:4167943-4167993	AoSMC	blood vessel:	n/a
41	chr7:4167882-4167932	HNPCEpiC	eye:	n/a
42	chr7:4167809-4167859	Caco-2	colon:	n/a
43	chr7:4167809-4167859	A549	lung:	n/a
44	chr7:4167882-4167932	NT2-D1	testis:	n/a
45	chr7:4167943-4167993	SK-N-SH_RA	brain:	n/a
46	chr7:4167882-4167932	HAEpiC	amniotic membrane:	n/a
47	chr7:4167607-4167657	AG09319	gingival:	n/a
48	chr7:4167882-4167932	AG09319	gingival:	n/a
49	chr7:4167809-4167859	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:4167943-4167993	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4159770..4161422-chr7:4162793..4165151,2	K562	blood:
2	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: 535 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552658207	chr7:4158472-4158473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184512469	chr7:4158495-4158496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561849135	chr7:4158497-4158498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190246461	chr7:4158527-4158528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548211992	chr7:4158556-4158557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568325314	chr7:4158559-4158560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536684942	chr7:4158570-4158571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs367972826	chr7:4158582-4158583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571269100	chr7:4158600-4158601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs34918937	chr7:4158607-4158608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556909741	chr7:4158609-4158610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs36007114	chr7:4158670-4158671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112769424	chr7:4158696-4158697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142988241	chr7:4158700-4158701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182501344	chr7:4158725-4158726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555744730	chr7:4158735-4158736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572325539	chr7:4158795-4158796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147320986	chr7:4158804-4158805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561456629	chr7:4158809-4158810	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575068041	chr7:4158818-4158819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543498501	chr7:4158902-4158903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563704158	chr7:4158905-4158906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532509323	chr7:4158906-4158907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs59451942	chr7:4158941-4158942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552721562	chr7:4158943-4158944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559858198	chr7:4158973-4158974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528325304	chr7:4159003-4159004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs548351545	chr7:4159020-4159021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186032993	chr7:4159043-4159044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140985242	chr7:4159067-4159068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550557690	chr7:4159103-4159104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs115794102	chr7:4159107-4159108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539017425	chr7:4159126-4159127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74521160	chr7:4159129-4159130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566212660	chr7:4159132-4159133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144843976	chr7:4159142-4159143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147917247	chr7:4159162-4159163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs140205423	chr7:4159195-4159196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7777312	chr7:4159206-4159207	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115904062	chr7:4159218-4159219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149902266	chr7:4159228-4159229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189237418	chr7:4159266-4159267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557338007	chr7:4159310-4159311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577332905	chr7:4159314-4159315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144917928	chr7:4159357-4159358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559922263	chr7:4159374-4159375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181275127	chr7:4159389-4159390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149029148	chr7:4159403-4159404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185528787	chr7:4159440-4159441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143009651	chr7:4159452-4159453	Weak transcription ZNF genes & repeats	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4132400-4180200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:4142400-4158800	Weak transcription	Fetal Brain Female	brain
3	chr7:4148600-4158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:4151800-4158800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:4152000-4162400	Weak transcription	Left Ventricle	heart
6	chr7:4154000-4158800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:4154000-4159600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:4154400-4159000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:4154600-4158800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:4154600-4159800	Weak transcription	Fetal Lung	lung
11	chr7:4154600-4191600	Weak transcription	Gastric	stomach
12	chr7:4155200-4163600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:4156600-4158800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:4156600-4174000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:4156800-4167000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:4157200-4159200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr7:4157400-4167400	Weak transcription	Pancreas	Pancrea
18	chr7:4157400-4169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4157600-4163400	Weak transcription	Spleen	Spleen
20	chr7:4157600-4165600	Weak transcription	Aorta	Aorta
21	chr7:4158400-4158600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:4158800-4159600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:4159800-4160000	ZNF genes & repeats	Fetal Lung	lung
24	chr7:4162000-4162400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:4162200-4167800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:4162200-4170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:4162600-4163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:4162600-4164800	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:4162800-4164800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:4163000-4164200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:4163000-4164200	Enhancers	HSMM	muscle
32	chr7:4163400-4163800	Active TSS	Spleen	Spleen
33	chr7:4163400-4164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:4163400-4164600	Enhancers	HSMMtube	muscle
35	chr7:4163600-4164000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:4163600-4164000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:4163600-4164200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:4163800-4167200	Weak transcription	Spleen	Spleen
39	chr7:4164000-4184000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:4164200-4165200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:4164600-4166400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:4164800-4165200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:4164800-4165200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:4165200-4165400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:4165200-4168400	Enhancers	Primary hematopoietic stem cells	blood
46	chr7:4165200-4169600	Weak transcription	Fetal Intestine Large	intestine
47	chr7:4165400-4166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:4165400-4167200	Weak transcription	Fetal Stomach	stomach
49	chr7:4165600-4165800	Strong transcription	Aorta	Aorta
50	chr7:4165600-4166800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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