Variant report

Variant	esv3399901
Chromosome Location	chr7:16444428-16445027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16443928..16446056-chr7:16453024..16455999,2	K562	blood:
2	chr7:16423814..16426314-chr7:16443888..16446431,2	K562	blood:
3	chr7:16444286..16446056-chr7:16454023..16455999,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532181202	chr7:16444465-16444466	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576356843	chr7:16444467-16444468	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10268957	chr7:16444499-16444500	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565640972	chr7:16444525-16444526	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186009387	chr7:16444543-16444544	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79027278	chr7:16444580-16444581	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536562565	chr7:16444583-16444584	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569547358	chr7:16444606-16444607	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs555301672	chr7:16444619-16444620	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs371339217	chr7:16444620-16444621	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs10950618	chr7:16444636-16444637	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559053254	chr7:16444663-16444664	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs577253874	chr7:16444677-16444678	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs78324032	chr7:16444716-16444717	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs553048138	chr7:16444717-16444718	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533084010	chr7:16444730-16444731	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs190863392	chr7:16444731-16444732	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs542507948	chr7:16444734-16444735	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs77762195	chr7:16444742-16444743	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs180876725	chr7:16444753-16444754	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs575938929	chr7:16444815-16444816	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs2389635	chr7:16444857-16444858	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541145966	chr7:16444864-16444865	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs565032191	chr7:16444867-16444868	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2389634	chr7:16444893-16444894	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547391709	chr7:16444920-16444921	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs149965182	chr7:16444985-16444986	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558887501	chr7:16445011-16445012	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16439800-16450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:16440000-16449000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:16440200-16452600	Weak transcription	Pancreas	Pancrea
5	chr7:16440400-16449000	Weak transcription	HSMM	muscle
6	chr7:16440400-16450000	Weak transcription	Fetal Stomach	stomach
7	chr7:16440400-16450400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:16440400-16452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:16440400-16452600	Weak transcription	Gastric	stomach
10	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:16441200-16445000	Weak transcription	Ovary	ovary
12	chr7:16442600-16449000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:16443400-16449400	Weak transcription	Brain Anterior Caudate	brain
14	chr7:16443400-16451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:16443400-16452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:16443600-16445200	Weak transcription	Fetal Lung	lung
17	chr7:16443600-16449000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16443600-16449600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:16443600-16450200	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:16443600-16450200	Weak transcription	Left Ventricle	heart
21	chr7:16443600-16456400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:16444000-16445200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr7:16444000-16450800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:16444200-16445000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr7:16444400-16444600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:16444400-16450000	Weak transcription	K562	blood

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