Variant report

Variant	nsv974739
Chromosome Location	chr16:72168968-72170290
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	chr16:72164371..72166445-chr16:72168033..72170206,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139699043	chr16:72168969-72168970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562356636	chr16:72168991-72168992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17603936	chr16:72169002-72169003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3852782	chr16:72169023-72169024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs189092823	chr16:72169053-72169054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3852783	chr16:72169076-72169077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117191519	chr16:72169079-72169080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569853974	chr16:72169105-72169106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182481392	chr16:72169142-72169143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548996487	chr16:72169151-72169152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567502850	chr16:72169168-72169169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534785113	chr16:72169192-72169193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554326298	chr16:72169212-72169213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200488023	chr16:72169244-72169245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150324485	chr16:72169245-72169246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77030780	chr16:72169258-72169259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373323912	chr16:72169259-72169260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563423693	chr16:72169260-72169261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56215253	chr16:72169261-72169262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142710267	chr16:72169262-72169263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375996121	chr16:72169264-72169265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368698050	chr16:72169272-72169273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12925881	chr16:72169275-72169276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368867022	chr16:72169278-72169279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556451349	chr16:72169284-72169285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80153338	chr16:72169289-72169290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372241308	chr16:72169290-72169291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544138922	chr16:72169306-72169307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113792984	chr16:72169319-72169320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370311011	chr16:72169396-72169397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541199643	chr16:72169411-72169412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148396642	chr16:72169415-72169416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576591964	chr16:72169445-72169446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551183943	chr16:72169460-72169461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548255391	chr16:72169488-72169489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142527864	chr16:72169523-72169524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113936792	chr16:72169537-72169538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549284556	chr16:72169579-72169580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567537298	chr16:72169613-72169614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398042285	chr16:72169637-72169638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12930035	chr16:72169638-72169639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12929244	chr16:72169639-72169640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56995463	chr16:72169663-72169664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528308972	chr16:72169713-72169714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546774725	chr16:72169732-72169733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566183339	chr16:72169747-72169748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539972399	chr16:72169755-72169756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572465988	chr16:72169804-72169805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530809698	chr16:72169828-72169829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147715156	chr16:72169838-72169839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72147000-72172200	Weak transcription	Dnd41	blood
2	chr16:72147800-72170000	Weak transcription	Thymus	Thymus
3	chr16:72159400-72170200	Weak transcription	Fetal Stomach	stomach
4	chr16:72159800-72169800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr16:72160000-72172400	Weak transcription	Fetal Intestine Small	intestine
6	chr16:72160000-72173400	Weak transcription	Pancreas	Pancrea
7	chr16:72160600-72171400	Weak transcription	HepG2	liver
8	chr16:72160600-72171600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:72165400-72169200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:72166800-72171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:72169800-72170800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr16:72170000-72170800	Strong transcription	Thymus	Thymus
13	chr16:72170200-72170800	Strong transcription	Fetal Stomach	stomach

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