Variant report

Variant	esv3326794
Chromosome Location	chr7:122186590-122196256
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	chr7:122183722..122186145-chr7:122188778..122190571,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10701014	chr7:122186603-122186604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67820520	chr7:122186604-122186605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397795779	chr7:122186607-122186608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150502790	chr7:122186618-122186619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184606967	chr7:122186681-122186682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10238396	chr7:122186718-122186719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534900883	chr7:122186719-122186720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552088698	chr7:122186729-122186730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11763594	chr7:122186753-122186754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537071640	chr7:122186767-122186768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139533223	chr7:122186796-122186797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368308978	chr7:122186846-122186847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189073449	chr7:122186848-122186849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559767453	chr7:122186879-122186880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117558133	chr7:122186892-122186893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552790657	chr7:122186925-122186926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180754902	chr7:122186973-122186974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs740812	chr7:122186974-122186975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564866244	chr7:122186984-122186985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575170001	chr7:122187109-122187110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370602630	chr7:122187113-122187114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527729388	chr7:122187128-122187129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186398338	chr7:122187129-122187130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398006083	chr7:122187138-122187139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573663936	chr7:122187146-122187147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs740813	chr7:122187195-122187196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188523516	chr7:122187223-122187224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34467456	chr7:122187226-122187227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549501145	chr7:122187229-122187230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181615069	chr7:122187268-122187269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528715808	chr7:122187291-122187292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553602167	chr7:122187293-122187294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551660271	chr7:122187350-122187351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573621379	chr7:122187377-122187378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367920635	chr7:122187440-122187441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537705100	chr7:122187483-122187484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550603085	chr7:122187489-122187490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537494579	chr7:122187541-122187542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567318812	chr7:122187545-122187546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186092487	chr7:122187548-122187549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553067516	chr7:122187759-122187760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371576535	chr7:122187813-122187814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572831710	chr7:122187845-122187846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538851684	chr7:122187860-122187861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558297769	chr7:122187893-122187894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62474631	chr7:122187942-122187943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545725887	chr7:122187959-122187960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575183871	chr7:122187971-122187972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191204910	chr7:122187990-122187991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183815324	chr7:122188060-122188061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122183200-122192400	Weak transcription	Fetal Lung	lung
2	chr7:122184400-122226000	Weak transcription	Left Ventricle	heart
3	chr7:122184600-122197400	Weak transcription	Lung	lung
4	chr7:122184800-122186800	Weak transcription	Ovary	ovary
5	chr7:122184800-122197200	Weak transcription	Pancreas	Pancrea
6	chr7:122187600-122187800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:122187600-122188000	Enhancers	Brain Germinal Matrix	brain
8	chr7:122187800-122189800	Weak transcription	HepG2	liver
9	chr7:122187800-122196200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:122188200-122194000	Weak transcription	Liver	Liver
11	chr7:122188600-122188800	Enhancers	Colon Smooth Muscle	Colon
12	chr7:122188600-122189000	Enhancers	Fetal Heart	heart
13	chr7:122189000-122192400	Weak transcription	Fetal Heart	heart
14	chr7:122189000-122196600	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:122189800-122190400	Enhancers	HepG2	liver
16	chr7:122192400-122193200	Enhancers	Fetal Heart	heart
17	chr7:122192400-122194400	Strong transcription	Fetal Lung	lung
18	chr7:122192600-122196800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:122192800-122196600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:122193000-122193200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:122193200-122219200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:122193600-122194200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:122193600-122194200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:122193600-122194200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:122194000-122194200	Enhancers	Liver	Liver
26	chr7:122194200-122197000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:122194200-122197200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:122194400-122196600	Weak transcription	Fetal Lung	lung
29	chr7:122196000-122196200	Enhancers	HUES64 Cell Line	embryonic stem cell

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