Variant report

Variant	esv3478345
Chromosome Location	chr7:153170718-153171550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:153103693..153106480-chr7:153169343..153171365,2	K562	blood:
2	chr7:153119320..153121928-chr7:153170985..153172845,2	K562	blood:
3	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
4	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
5	chr7:153111734..153114146-chr7:153170231..153173109,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552127018	chr7:153170742-153170743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6464335	chr7:153170761-153170762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs59849267	chr7:153170837-153170838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559560079	chr7:153170865-153170866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6464336	chr7:153170869-153170870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535702559	chr7:153170886-153170887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554624183	chr7:153170941-153170942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6464337	chr7:153170985-153170986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71543530	chr7:153171045-153171046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146219425	chr7:153171052-153171053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187982780	chr7:153171072-153171073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529662850	chr7:153171086-153171087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57638955	chr7:153171088-153171089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541316476	chr7:153171105-153171106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146465794	chr7:153171149-153171150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184397659	chr7:153171199-153171200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187837545	chr7:153171279-153171280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541689146	chr7:153171282-153171283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571390609	chr7:153171288-153171289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192802451	chr7:153171309-153171310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530881304	chr7:153171327-153171328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4434538	chr7:153171348-153171349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570507112	chr7:153171367-153171368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528504809	chr7:153171368-153171369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547253966	chr7:153171375-153171376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138828514	chr7:153171386-153171387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114361380	chr7:153171401-153171402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112021133	chr7:153171455-153171456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553968148	chr7:153171489-153171490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569481835	chr7:153171513-153171514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184817175	chr7:153171536-153171537	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153170000-153170800	Enhancers	Colon Smooth Muscle	Colon
2	chr7:153170000-153171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:153170400-153171000	Enhancers	Ovary	ovary
4	chr7:153170600-153171400	Weak transcription	Fetal Kidney	kidney
5	chr7:153171400-153171600	Enhancers	Fetal Kidney	kidney
6	chr7:153171400-153171800	Enhancers	Fetal Muscle Leg	muscle

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