Variant report

Variant	esv3475253
Chromosome Location	chr7:16169827-16176025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16174593..16177204-chr7:16180297..16182169,2	K562	blood:
2	chr7:16163332..16166682-chr7:16168579..16171460,3	K562	blood:
3	chr7:16175890..16178369-chr7:16460107..16462203,3	K562	blood:
4	chr7:16175890..16178369-chr7:16460107..16461891,2	K562	blood:

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578117461	chr7:16169836-16169837	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534189574	chr7:16169841-16169842	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576503669	chr7:16169850-16169851	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544060294	chr7:16169881-16169882	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531563400	chr7:16169894-16169895	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377199457	chr7:16169936-16169937	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369207480	chr7:16169937-16169938	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188559805	chr7:16169969-16169970	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75872145	chr7:16169991-16169992	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190641793	chr7:16169996-16169997	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145324967	chr7:16170031-16170032	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66933521	chr7:16170048-16170049	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs59037948	chr7:16170094-16170095	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541774196	chr7:16170128-16170129	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141731494	chr7:16170174-16170175	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60982484	chr7:16170182-16170183	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556158952	chr7:16170197-16170198	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183243577	chr7:16170230-16170231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150601651	chr7:16170273-16170274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139599849	chr7:16170305-16170306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187943425	chr7:16170312-16170313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556032076	chr7:16170330-16170331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543080563	chr7:16170332-16170333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561046281	chr7:16170335-16170336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576523948	chr7:16170418-16170419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543433672	chr7:16170507-16170508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376352262	chr7:16170509-16170510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149354092	chr7:16170519-16170520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532420599	chr7:16170530-16170531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548072746	chr7:16170659-16170660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560097297	chr7:16170681-16170682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530270212	chr7:16170685-16170686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548846256	chr7:16170723-16170724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567240159	chr7:16170726-16170727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537974492	chr7:16170735-16170736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139846379	chr7:16170750-16170751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28386896	chr7:16170796-16170797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538257439	chr7:16170808-16170809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531442813	chr7:16170833-16170834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115661118	chr7:16170845-16170846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572057827	chr7:16170861-16170862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116144452	chr7:16170890-16170891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564587473	chr7:16170899-16170900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117227421	chr7:16170906-16170907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543868816	chr7:16170920-16170921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558796918	chr7:16170974-16170975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577126536	chr7:16171009-16171010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541438787	chr7:16171055-16171056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191306198	chr7:16171062-16171063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1358280	chr7:16171065-16171066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16158200-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:16167800-16170400	Weak transcription	Left Ventricle	heart
3	chr7:16168200-16170800	Enhancers	HSMM	muscle
4	chr7:16168400-16170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:16168600-16170000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr7:16168600-16170600	Enhancers	HMEC	breast
7	chr7:16168600-16171000	Enhancers	HUVEC	blood vessel
8	chr7:16168800-16170000	Flanking Active TSS	Osteobl	bone
9	chr7:16168800-16170600	Enhancers	NHLF	lung
10	chr7:16168800-16170800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:16169000-16170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:16169000-16170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:16169200-16170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:16169200-16170400	Weak transcription	Psoas Muscle	Psoas
15	chr7:16169400-16170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:16169400-16170400	Enhancers	Hela-S3	cervix
17	chr7:16169600-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:16169600-16170600	Enhancers	NH-A	brain
19	chr7:16169600-16171000	Enhancers	NHDF-Ad	bronchial
20	chr7:16169600-16171200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:16169800-16170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:16169800-16170200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:16169800-16170600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:16169800-16170800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:16169800-16170800	Enhancers	HSMMtube	muscle
26	chr7:16169800-16183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:16170000-16170400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:16170000-16170400	Enhancers	Osteobl	bone
29	chr7:16170000-16170600	Enhancers	Adipose Nuclei	Adipose
30	chr7:16170200-16170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:16170200-16170800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:16170200-16170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:16170200-16171200	Enhancers	Fetal Muscle Leg	muscle
34	chr7:16170400-16170600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:16170400-16170600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:16170400-16170600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:16170400-16170600	Flanking Active TSS	Osteobl	bone
38	chr7:16170400-16170800	Enhancers	Stomach Smooth Muscle	stomach
39	chr7:16170400-16171000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:16170400-16171200	Enhancers	Placenta	Placenta
41	chr7:16170400-16171200	Enhancers	Psoas Muscle	Psoas
42	chr7:16170400-16171200	Enhancers	Right Atrium	heart
43	chr7:16170400-16171600	Enhancers	Left Ventricle	heart
44	chr7:16170400-16171600	Enhancers	Right Ventricle	heart
45	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:16170600-16170800	Enhancers	Osteobl	bone
48	chr7:16170600-16171200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:16170600-16171400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:16170800-16174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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