Variant report

Variant	esv5934
Chromosome Location	chr7:21450149-21451243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21449603..21452420-chr7:21469416..21471792,2	K562	blood:
2	chr7:21442032..21444961-chr7:21451178..21453639,2	K562	blood:
3	chr7:21448504..21451103-chr7:21469416..21470988,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182730541	chr7:21450171-21450172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571877254	chr7:21450221-21450222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188148551	chr7:21450259-21450260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554598440	chr7:21450260-21450261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560053128	chr7:21450273-21450274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192627641	chr7:21450358-21450359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563659775	chr7:21450374-21450375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116870133	chr7:21450380-21450381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557298756	chr7:21450414-21450415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553070049	chr7:21450422-21450423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145925091	chr7:21450467-21450468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80353404	chr7:21450469-21450470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528730403	chr7:21450475-21450476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548778057	chr7:21450502-21450503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568707057	chr7:21450506-21450507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367856849	chr7:21450510-21450511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116055090	chr7:21450524-21450525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549518419	chr7:21450526-21450527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373683395	chr7:21450532-21450533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182974340	chr7:21450590-21450591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138772720	chr7:21450602-21450603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78681530	chr7:21450654-21450655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187561710	chr7:21450710-21450711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564910093	chr7:21450754-21450755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534556317	chr7:21450819-21450820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192681842	chr7:21450826-21450827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17144407	chr7:21450834-21450835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs116366356	chr7:21450915-21450916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557100214	chr7:21450924-21450925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs253426	chr7:21450925-21450926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141816870	chr7:21450927-21450928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567254659	chr7:21450935-21450936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559913784	chr7:21450936-21450937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs253427	chr7:21450943-21450944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184558483	chr7:21451024-21451025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546497396	chr7:21451109-21451110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562266813	chr7:21451120-21451121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148872727	chr7:21451142-21451143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376967545	chr7:21451149-21451150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs253428	chr7:21451151-21451152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377117327	chr7:21451157-21451158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551225588	chr7:21451183-21451184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571043293	chr7:21451216-21451217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532010501	chr7:21451240-21451241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Endometrioid adenocarcinoma	16974079	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21450000-21450200	Enhancers	Small Intestine	intestine
2	chr7:21450000-21451800	Enhancers	Thymus	Thymus
3	chr7:21450000-21454200	Enhancers	Fetal Thymus	thymus
4	chr7:21450200-21451800	Weak transcription	Small Intestine	intestine
5	chr7:21450400-21454400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:21450600-21454000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:21451000-21453400	Enhancers	Primary T cells from cord blood	blood
8	chr7:21451000-21453800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:21451200-21453200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:21451200-21453800	Enhancers	GM12878-XiMat	blood

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