Variant report

Variant	nsv516231
Chromosome Location	chr16:74873513-74875946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:74875936-74876280	K562	blood:	n/a	n/a
2	CEBPB	chr16:74874704-74874904	HepG2	liver:	n/a	chr16:74874833-74874844
3	CEBPB	chr16:74873527-74873554	A549	lung:	n/a	n/a
4	CEBPB	chr16:74874804-74874902	K562	blood:	n/a	chr16:74874833-74874844
5	CTCF	chr16:74874761-74874827	GM10248	blood:	n/a	n/a
6	POLR2A	chr16:74874227-74874339	ProgFib	skin:	n/a	n/a
7	SPI1	chr16:74874336-74874508	K562	blood:	n/a	n/a
8	SPI1	chr16:74874311-74874565	K562	blood:	n/a	n/a
9	SPI1	chr16:74874359-74874598	HL-60	blood:	n/a	n/a
10	SPI1	chr16:74874360-74874578	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74859894..74862181-chr16:74872505..74874523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261458	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs725710	chr16:74873513-74873514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547054822	chr16:74873527-74873528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370568664	chr16:74873528-74873529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs725709	chr16:74873574-74873575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150462157	chr16:74873583-74873584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555886261	chr16:74873600-74873601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138421243	chr16:74873624-74873625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183475539	chr16:74873627-74873628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186616492	chr16:74873654-74873655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572238948	chr16:74873678-74873679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533284038	chr16:74873686-74873687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541241310	chr16:74873698-74873699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148847991	chr16:74873709-74873710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143522057	chr16:74873747-74873748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs137871222	chr16:74873759-74873760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563523002	chr16:74873773-74873774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529291904	chr16:74873820-74873821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192736501	chr16:74873850-74873851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs929883	chr16:74873867-74873868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs929882	chr16:74873913-74873914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551540951	chr16:74873924-74873925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7190905	chr16:74873927-74873928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs532878126	chr16:74873928-74873929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142387511	chr16:74873934-74873935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569501380	chr16:74873966-74873967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202116795	chr16:74873967-74873968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377541542	chr16:74874070-74874071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555663373	chr16:74874076-74874077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112272677	chr16:74874077-74874078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58075393	chr16:74874078-74874079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7191282	chr16:74874079-74874080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534944310	chr16:74874081-74874082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113958720	chr16:74874116-74874117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71378711	chr16:74874125-74874126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35903582	chr16:74874128-74874129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59459547	chr16:74874146-74874147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543510736	chr16:74874159-74874160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141693151	chr16:74874270-74874271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12923955	chr16:74874293-74874294	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573665552	chr16:74874329-74874330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150774791	chr16:74874348-74874349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188251939	chr16:74874361-74874362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545726412	chr16:74874377-74874378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546200016	chr16:74874431-74874432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs531139219	chr16:74874492-74874493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9925233	chr16:74874522-74874523	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs563408838	chr16:74874546-74874547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs8048847	chr16:74874621-74874622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370450592	chr16:74874640-74874641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558436132	chr16:74874684-74874685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Epilepsy	20502679	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74864800-74877200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:74870600-74877000	Weak transcription	Esophagus	oesophagus
3	chr16:74871400-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:74871600-74875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:74871600-74875800	Weak transcription	NHEK	skin
6	chr16:74871600-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:74871600-74876000	Weak transcription	HMEC	breast
8	chr16:74872600-74877000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:74872800-74877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:74873400-74875200	Weak transcription	Placenta	Placenta
11	chr16:74875200-74875400	Enhancers	Placenta	Placenta
12	chr16:74875400-74875800	Weak transcription	Placenta	Placenta
13	chr16:74875800-74876200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:74875800-74877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:74875800-74877000	Enhancers	Dnd41	blood
16	chr16:74875800-74878400	Enhancers	NHEK	skin
17	chr16:74875800-74879400	Enhancers	Placenta	Placenta

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