Variant report

Variant	esv2442723
Chromosome Location	chr7:18352014-18353376
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	chr7:18338973..18341007-chr7:18351398..18353885,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78366740	chr7:18352080-18352081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534061167	chr7:18352088-18352089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562960586	chr7:18352092-18352093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188125406	chr7:18352101-18352102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181324864	chr7:18352112-18352113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560143302	chr7:18352125-18352126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527327745	chr7:18352153-18352154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549087047	chr7:18352197-18352198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554071977	chr7:18352229-18352230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117243629	chr7:18352242-18352243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186390673	chr7:18352303-18352304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549916058	chr7:18352326-18352327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12668703	chr7:18352342-18352343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150712542	chr7:18352372-18352373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17418807	chr7:18352376-18352377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551886957	chr7:18352425-18352426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137953300	chr7:18352483-18352484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149536508	chr7:18352485-18352486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555419810	chr7:18352535-18352536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376543230	chr7:18352547-18352548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144148678	chr7:18352579-18352580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191697090	chr7:18352620-18352621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556676584	chr7:18352655-18352656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181815480	chr7:18352657-18352658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545711886	chr7:18352730-18352731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563191914	chr7:18352738-18352739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186452607	chr7:18352753-18352754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113018098	chr7:18352757-18352758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542671482	chr7:18352759-18352760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115226935	chr7:18352765-18352766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531924259	chr7:18352789-18352790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190914640	chr7:18352878-18352879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200457621	chr7:18352903-18352904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183102152	chr7:18352936-18352937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548359843	chr7:18352974-18352975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565665830	chr7:18353018-18353019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143395311	chr7:18353052-18353053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568346796	chr7:18353132-18353133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548930085	chr7:18353141-18353142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527904864	chr7:18353304-18353305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186710551	chr7:18353350-18353351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18337000-18355200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18339600-18355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:18346400-18352200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:18346600-18353000	Weak transcription	Fetal Heart	heart
5	chr7:18349200-18352800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:18349200-18355000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:18349200-18358600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:18349800-18352200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:18351200-18353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:18352000-18352400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:18352000-18352800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:18352200-18352600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:18352200-18352800	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:18352400-18353000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:18352400-18353000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:18352400-18353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:18352600-18359400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:18352800-18353600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:18352800-18359600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:18353000-18357200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:18353000-18358200	Enhancers	Fetal Heart	heart

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