Variant report

Variant	esv3353498
Chromosome Location	chr7:33402877-33404875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12536596	chr7:33402923-33402924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190246026	chr7:33402998-33402999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541441040	chr7:33403001-33403002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376459035	chr7:33403031-33403032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114410300	chr7:33403126-33403127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528810664	chr7:33403175-33403176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540816856	chr7:33403235-33403236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370030377	chr7:33403238-33403239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373909371	chr7:33403284-33403285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115060488	chr7:33403372-33403373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532758599	chr7:33403396-33403397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117324247	chr7:33403422-33403423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562986195	chr7:33403423-33403424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183540069	chr7:33403484-33403485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568547309	chr7:33403486-33403487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548324377	chr7:33403497-33403498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376807479	chr7:33403507-33403508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368865085	chr7:33403545-33403546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200787842	chr7:33403547-33403548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201635069	chr7:33403548-33403549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566757771	chr7:33403550-33403551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148075545	chr7:33403551-33403552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200128641	chr7:33403552-33403553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201046483	chr7:33403553-33403554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371014209	chr7:33403564-33403565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372808735	chr7:33403632-33403633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530077345	chr7:33403709-33403710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113317212	chr7:33403781-33403782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374042417	chr7:33403803-33403804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112862957	chr7:33403835-33403836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188464167	chr7:33403839-33403840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574226456	chr7:33403850-33403851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535407621	chr7:33403857-33403858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553532951	chr7:33403858-33403859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572018117	chr7:33403859-33403860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77625171	chr7:33403891-33403892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565599898	chr7:33404012-33404013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193213296	chr7:33404091-33404092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76963503	chr7:33404099-33404100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562951302	chr7:33404104-33404105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28867676	chr7:33404255-33404256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530266321	chr7:33404301-33404302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377476848	chr7:33404304-33404305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548555490	chr7:33404337-33404338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183825166	chr7:33404339-33404340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188073297	chr7:33404354-33404355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11769334	chr7:33404394-33404395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191335248	chr7:33404466-33404467	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533875009	chr7:33404560-33404561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549593571	chr7:33404561-33404562	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Melanoma	18172304	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
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
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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33355200-33419600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:33362200-33404400	Weak transcription	Ovary	ovary
3	chr7:33362200-33404800	Weak transcription	Fetal Lung	lung
4	chr7:33377600-33404800	Weak transcription	Left Ventricle	heart
5	chr7:33378200-33404400	Weak transcription	Aorta	Aorta
6	chr7:33380000-33404400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:33380600-33404800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:33381400-33407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:33384000-33425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:33385800-33407000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:33386000-33407400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:33386400-33408200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:33387000-33425200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:33388800-33404800	Weak transcription	Lung	lung
15	chr7:33389000-33437400	Weak transcription	Liver	Liver
16	chr7:33391600-33407400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:33392600-33423000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:33393600-33419600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:33394200-33419400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:33394200-33419600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:33394400-33427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:33395000-33407400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:33395400-33405000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:33396600-33420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:33396600-33422000	Weak transcription	Small Intestine	intestine
26	chr7:33402600-33419600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:33403000-33427400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:33403200-33404800	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:33403400-33405000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:33403400-33437800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:33403800-33419600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:33403800-33430400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:33404000-33404400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:33404000-33404400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:33404000-33419800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:33404000-33433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:33404200-33404400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:33404200-33407400	Weak transcription	Fetal Brain Male	brain
39	chr7:33404400-33404600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:33404400-33405200	ZNF genes & repeats	Aorta	Aorta
41	chr7:33404400-33405200	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr7:33404400-33405200	Strong transcription	Ovary	ovary
43	chr7:33404400-33405400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr7:33404400-33406000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr7:33404600-33404800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr7:33404600-33419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:33404600-33419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:33404800-33405000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:33404800-33405400	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr7:33404800-33405400	ZNF genes & repeats	Left Ventricle	heart

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