Variant report

Variant	esv3393885
Chromosome Location	chr7:16337386-16338654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16332203..16333821-chr7:16335558..16338156,2	K562	blood:
2	chr7:16329621..16333476-chr7:16335490..16337666,4	K562	blood:
3	chr7:16338494..16340742-chr7:16343830..16346096,2	K562	blood:
4	chr7:16325178..16329293-chr7:16335508..16338297,3	K562	blood:
5	chr7:16328237..16331121-chr7:16335386..16337666,3	K562	blood:
6	chr7:16335290..16339651-chr7:16341311..16343633,4	K562	blood:
7	chr7:16333997..16336395-chr7:16337300..16340770,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 88 )

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	rs76048776	chr7:16337507-16337508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542479930	chr7:16337508-16337509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544147087	chr7:16337526-16337527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72506102	chr7:16337556-16337557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575890674	chr7:16337581-16337582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372427656	chr7:16337647-16337648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148999338	chr7:16337685-16337686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564969629	chr7:16337701-16337702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111847683	chr7:16337711-16337712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143034125	chr7:16337781-16337782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540778614	chr7:16337854-16337855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148182179	chr7:16337861-16337862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529679281	chr7:16337900-16337901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77857811	chr7:16337937-16337938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368050620	chr7:16337940-16337941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117624715	chr7:16337947-16337948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34527917	chr7:16337963-16337964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189288675	chr7:16337969-16337970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142753163	chr7:16337970-16337971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147377678	chr7:16338006-16338007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181964327	chr7:16338026-16338027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114870370	chr7:16338157-16338158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373281269	chr7:16338186-16338187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559847523	chr7:16338222-16338223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115996568	chr7:16338261-16338262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532085839	chr7:16338280-16338281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138149647	chr7:16338341-16338342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540448771	chr7:16338375-16338376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76297617	chr7:16338398-16338399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576054255	chr7:16338409-16338410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115740178	chr7:16338445-16338446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185197992	chr7:16338446-16338447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573492851	chr7:16338449-16338450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574224116	chr7:16338453-16338454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546113957	chr7:16338523-16338524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543147659	chr7:16338540-16338541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73298622	chr7:16338545-16338546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574360869	chr7:16338559-16338560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12533099	chr7:16338579-16338580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57026722	chr7:16338614-16338615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143611853	chr7:16338630-16338631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183205021	chr7:16338640-16338641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534224540	chr7:16338651-16338652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528301384	chr7:16338652-16338653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	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
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
3	chr7:16335400-16343800	Weak transcription	K562	blood
4	chr7:16335600-16340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:16336600-16339400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:16336800-16339200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:16337400-16338600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:16338400-16339600	Enhancers	Stomach Mucosa	stomach
9	chr7:16338600-16340200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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