Variant report

Variant	esv3389121
Chromosome Location	chr7:6858977-6861275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6859375-6859510	HUVEC	blood vessel:	n/a	n/a
2	USF1	chr7:6859437-6859551	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CCZ1B	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549773418	chr7:6859007-6859008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568049447	chr7:6859022-6859023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535732404	chr7:6859032-6859033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2711264	chr7:6859033-6859034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548117509	chr7:6859039-6859040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566122875	chr7:6859043-6859044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540061996	chr7:6859059-6859060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557948109	chr7:6859075-6859076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62441820	chr7:6859101-6859102	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2711266	chr7:6859117-6859118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537151576	chr7:6859177-6859178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2711267	chr7:6859181-6859182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555303034	chr7:6859215-6859216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191799991	chr7:6859225-6859226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568960930	chr7:6859298-6859299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541754337	chr7:6859320-6859321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554061994	chr7:6859352-6859353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572131751	chr7:6859354-6859355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200142817	chr7:6859373-6859374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564292531	chr7:6859377-6859378	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531384498	chr7:6859380-6859381	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs202113645	chr7:6859384-6859385	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200223833	chr7:6859402-6859403	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543550013	chr7:6859410-6859411	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561516697	chr7:6859433-6859434	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145992513	chr7:6859453-6859454	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547759668	chr7:6859466-6859467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368977002	chr7:6859473-6859474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373449751	chr7:6859475-6859476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142195264	chr7:6859544-6859545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374231089	chr7:6859549-6859550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147354374	chr7:6859561-6859562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139495126	chr7:6859562-6859563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551512683	chr7:6859575-6859576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373060036	chr7:6859579-6859580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537139277	chr7:6859587-6859588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555878336	chr7:6859594-6859595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376072888	chr7:6859603-6859604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183463031	chr7:6859653-6859654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535052034	chr7:6859655-6859656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553107553	chr7:6859671-6859672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139989154	chr7:6859681-6859682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187545595	chr7:6859694-6859695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546119692	chr7:6859709-6859710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557942746	chr7:6859710-6859711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115640779	chr7:6859720-6859721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78514418	chr7:6859727-6859728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543523917	chr7:6859751-6859752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71010918	chr7:6859772-6859773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67243118	chr7:6859773-6859774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6832000-6864600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:6832000-6864800	Weak transcription	Fetal Thymus	thymus
3	chr7:6832200-6860800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:6832400-6864600	Weak transcription	Fetal Lung	lung
5	chr7:6832600-6861000	Weak transcription	HUVEC	blood vessel
6	chr7:6832600-6864600	Weak transcription	NHLF	lung
7	chr7:6833000-6865200	Weak transcription	Left Ventricle	heart
8	chr7:6833000-6865200	Weak transcription	Ovary	ovary
9	chr7:6833200-6865200	Weak transcription	Pancreas	Pancrea
10	chr7:6833600-6864600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:6833600-6865200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:6834000-6866000	Weak transcription	Gastric	stomach
13	chr7:6840000-6865200	Weak transcription	Colonic Mucosa	Colon
14	chr7:6846600-6864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:6847400-6864600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:6847800-6864800	Weak transcription	NH-A	brain
17	chr7:6848200-6860600	Weak transcription	Aorta	Aorta
18	chr7:6848200-6864600	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:6848400-6864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:6848800-6863400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6849000-6863200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:6849000-6863200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:6849000-6864600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:6849400-6862800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:6849400-6863000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:6849600-6863400	Strong transcription	Fetal Stomach	stomach
27	chr7:6849800-6864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:6850000-6861800	Strong transcription	Adipose Nuclei	Adipose
29	chr7:6850000-6863200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:6850400-6860400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:6850400-6865200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:6850400-6866000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:6850600-6863400	Strong transcription	Fetal Intestine Small	intestine
34	chr7:6851400-6861000	Weak transcription	NHEK	skin
35	chr7:6851400-6864600	Weak transcription	GM12878-XiMat	blood
36	chr7:6851400-6864800	Weak transcription	K562	blood
37	chr7:6851600-6861200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:6851600-6864600	Weak transcription	Primary B cells from cord blood	blood
39	chr7:6851600-6864800	Weak transcription	A549	lung
40	chr7:6851800-6861000	Weak transcription	Osteobl	bone
41	chr7:6851800-6863200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:6851800-6864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:6851800-6864800	Weak transcription	Right Ventricle	heart
44	chr7:6852000-6864600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:6852800-6864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:6853000-6859000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:6853200-6865200	Weak transcription	Esophagus	oesophagus
48	chr7:6853400-6864000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:6853400-6864800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:6853400-6865200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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