Variant report

Variant	esv3370353
Chromosome Location	chr7:16333649-16334141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
2	chr7:16328727..16330491-chr7:16332176..16334941,2	K562	blood:
3	chr7:16328904..16333802-chr7:16457982..16461920,4	K562	blood:
4	chr7:16332203..16333821-chr7:16335558..16338156,2	K562	blood:
5	chr7:16332474..16335082-chr7:16341108..16343730,3	K562	blood:
6	chr7:16333754..16335349-chr7:16345715..16348508,2	K562	blood:
7	chr7:16333997..16336395-chr7:16337300..16340770,3	K562	blood:

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138380718	chr7:16333657-16333658	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549381864	chr7:16333676-16333677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73065159	chr7:16333677-16333678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529069845	chr7:16333700-16333701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550543401	chr7:16333714-16333715	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569598003	chr7:16333721-16333722	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186842350	chr7:16333733-16333734	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17460152	chr7:16333755-16333756	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191687663	chr7:16333756-16333757	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73298620	chr7:16333783-16333784	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534209397	chr7:16333822-16333823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549634114	chr7:16333837-16333838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61666208	chr7:16333858-16333859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375162282	chr7:16333862-16333863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538429325	chr7:16333911-16333912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556432826	chr7:16333918-16333919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145162141	chr7:16333929-16333930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371739132	chr7:16333937-16333938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182306999	chr7:16333953-16333954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557453237	chr7:16333954-16333955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572482534	chr7:16333960-16333961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187356054	chr7:16334009-16334010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200075247	chr7:16334094-16334095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200645374	chr7:16334096-16334097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77777049	chr7:16334104-16334105	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16332800-16334000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:16332800-16334200	Enhancers	NHEK	skin
4	chr7:16333200-16334000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:16333400-16333800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:16333400-16334200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
8	chr7:16333600-16333800	Flanking Active TSS	HMEC	breast
9	chr7:16333600-16336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16333800-16334000	Enhancers	HMEC	breast

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