Variant report

Variant	esv3354803
Chromosome Location	chr7:64411417-64415915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64404479..64405993-chr7:64410374..64412300,2	K562	blood:
2	chr7:64415881..64418431-chr7:64455784..64458339,2	K562	blood:
3	chr7:64411695..64412275-chr7:64772412..64772922,2	K562	blood:
4	chr7:64414429..64416798-chr7:64452211..64454777,2	MCF-7	breast:
5	chr7:64407101..64409765-chr7:64410479..64412336,2	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6978473	chr7:64411470-64411471	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566783226	chr7:64411478-64411479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532141086	chr7:64411514-64411515	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs376146618	chr7:64411533-64411534	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs144846824	chr7:64411613-64411614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192205063	chr7:64411626-64411627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184368809	chr7:64411664-64411665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188764195	chr7:64411728-64411729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113981714	chr7:64411730-64411731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79753110	chr7:64411796-64411797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534131910	chr7:64411806-64411807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534933302	chr7:64411881-64411882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77455903	chr7:64411919-64411920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577167127	chr7:64411923-64411924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545784936	chr7:64411939-64411940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114885485	chr7:64411966-64411967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62455631	chr7:64411993-64411994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541930345	chr7:64412046-64412047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559984371	chr7:64412051-64412052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562227237	chr7:64412066-64412067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200120807	chr7:64412162-64412163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529811781	chr7:64412173-64412174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62455632	chr7:64412239-64412240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148574672	chr7:64412241-64412242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142796940	chr7:64412252-64412253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74657877	chr7:64412322-64412323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150626353	chr7:64412323-64412324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531350822	chr7:64412348-64412349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558545636	chr7:64412364-64412365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547934801	chr7:64412404-64412405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568149170	chr7:64412405-64412406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534125215	chr7:64412416-64412417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553988254	chr7:64412445-64412446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570797119	chr7:64412450-64412451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191665432	chr7:64412472-64412473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556838257	chr7:64412527-64412528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572285573	chr7:64412556-64412557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538823219	chr7:64412591-64412592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576323837	chr7:64412594-64412595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542217558	chr7:64412595-64412596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76517163	chr7:64412632-64412633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184689077	chr7:64412643-64412644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140017435	chr7:64412663-64412664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577885082	chr7:64412667-64412668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7781025	chr7:64412711-64412712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189574630	chr7:64412743-64412744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577133455	chr7:64412800-64412801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540905278	chr7:64412831-64412832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143728183	chr7:64412914-64412915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562807794	chr7:64412917-64412918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64408800-64412800	Weak transcription	HepG2	liver
2	chr7:64409200-64412800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:64411200-64412000	Enhancers	Adipose Nuclei	Adipose
4	chr7:64411400-64411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:64411400-64411600	Enhancers	Fetal Heart	heart
6	chr7:64411400-64411600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr7:64411400-64419000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:64411600-64411800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:64411800-64412000	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:64412000-64412800	Weak transcription	Adipose Nuclei	Adipose
11	chr7:64412800-64413000	Enhancers	Adipose Nuclei	Adipose
12	chr7:64412800-64413200	Enhancers	HepG2	liver
13	chr7:64412800-64413400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:64413000-64419800	Weak transcription	Adipose Nuclei	Adipose

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