Variant report

Variant	esv3313400
Chromosome Location	chr16:72002790-72004585
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	chr16:72001943..72003668-chr16:72042372..72044249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102967	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369752440	chr16:72002805-72002806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577174634	chr16:72002863-72002864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180912186	chr16:72002892-72002893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577803764	chr16:72002918-72002919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185127483	chr16:72002929-72002930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34797924	chr16:72002936-72002937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565203587	chr16:72002940-72002941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551929949	chr16:72002954-72002955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576130759	chr16:72002991-72002992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543370735	chr16:72002993-72002994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561784345	chr16:72003022-72003023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371900838	chr16:72003045-72003046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574246016	chr16:72003065-72003066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138526434	chr16:72003077-72003078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541214662	chr16:72003079-72003080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149648673	chr16:72003100-72003101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144435798	chr16:72003112-72003113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552009371	chr16:72003204-72003205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573898151	chr16:72003205-72003206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375817681	chr16:72003213-72003214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563333626	chr16:72003264-72003265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10623320	chr16:72003267-72003268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs33916356	chr16:72003268-72003269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386385032	chr16:72003269-72003270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72523696	chr16:72003270-72003271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs397806893	chr16:72003271-72003272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111332412	chr16:72003272-72003273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112165952	chr16:72003273-72003274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530666262	chr16:72003280-72003281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376503172	chr16:72003284-72003285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548997014	chr16:72003307-72003308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11646078	chr16:72003317-72003318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377575941	chr16:72003370-72003371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71391427	chr16:72003390-72003391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34400689	chr16:72003454-72003455	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534598487	chr16:72003486-72003487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369744960	chr16:72003512-72003513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373477736	chr16:72003528-72003529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546840269	chr16:72003577-72003578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13332617	chr16:72003587-72003588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71391428	chr16:72003588-72003589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550520334	chr16:72003591-72003592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375654101	chr16:72003606-72003607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556747554	chr16:72003625-72003626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569805661	chr16:72003629-72003630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537192369	chr16:72003671-72003672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182056344	chr16:72003698-72003699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28629271	chr16:72003732-72003733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543315284	chr16:72003740-72003741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148391151	chr16:72003840-72003841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71999600-72010600	Weak transcription	Liver	Liver
2	chr16:71999800-72003200	Weak transcription	HepG2	liver
3	chr16:72003200-72003400	Enhancers	HepG2	liver

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