Variant report

Variant	esv3478312
Chromosome Location	chr7:99355781-99356675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99355786..99358236-chr7:99360607..99362683,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148317879	chr7:99355789-99355790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138550343	chr7:99355803-99355804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67666821	chr7:99355806-99355807	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374814627	chr7:99355827-99355828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60535349	chr7:99355836-99355837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28371761	chr7:99355843-99355844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141749477	chr7:99355852-99355853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59759247	chr7:99355865-99355866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375932085	chr7:99355869-99355870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34932363	chr7:99355870-99355871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34823876	chr7:99355907-99355908	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147972695	chr7:99355957-99355958	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3735451	chr7:99355975-99355976	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs533316116	chr7:99356092-99356093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551995950	chr7:99356095-99356096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141699118	chr7:99356137-99356138	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534538084	chr7:99356150-99356151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200746881	chr7:99356163-99356164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28988602	chr7:99356188-99356189	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567630881	chr7:99356199-99356200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182399898	chr7:99356209-99356210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556650624	chr7:99356260-99356261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17161886	chr7:99356324-99356325	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545671939	chr7:99356331-99356332	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34363031	chr7:99356342-99356343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28988601	chr7:99356437-99356438	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573030625	chr7:99356441-99356442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533756998	chr7:99356532-99356533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188034109	chr7:99356562-99356563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145961716	chr7:99356563-99356564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139943057	chr7:99356567-99356568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192700469	chr7:99356570-99356571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28988600	chr7:99356600-99356601	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146230959	chr7:99356647-99356648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562438914	chr7:99356672-99356673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99350800-99357600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:99350800-99359800	Weak transcription	Fetal Lung	lung
3	chr7:99350800-99369800	Weak transcription	Pancreas	Pancrea
4	chr7:99351000-99364000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:99355400-99365800	Strong transcription	Liver	Liver

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