Variant report

Variant	nsv981105
Chromosome Location	chr6:12319682-12320423
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	ZNF384	chr6:12320354-12320686	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12320054..12322576-chr6:12323490..12326394,2	MCF-7	breast:

Variant related genes	Relation type
SUMO2P12	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16872650	chr6:12319683-12319684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532068788	chr6:12319691-12319692	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576140341	chr6:12319692-12319693	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79131302	chr6:12319720-12319721	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565156233	chr6:12319724-12319725	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371370510	chr6:12319727-12319728	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188028237	chr6:12319739-12319740	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541178474	chr6:12319749-12319750	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151325323	chr6:12319761-12319762	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569451466	chr6:12319805-12319806	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140095954	chr6:12319819-12319820	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538464351	chr6:12319845-12319846	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549892818	chr6:12319855-12319856	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150286273	chr6:12319884-12319885	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137990386	chr6:12319934-12319935	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552175885	chr6:12319986-12319987	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566318011	chr6:12320013-12320014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192700208	chr6:12320021-12320022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149051392	chr6:12320043-12320044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554730647	chr6:12320094-12320095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376528073	chr6:12320105-12320106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115621100	chr6:12320135-12320136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185000831	chr6:12320188-12320189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200607828	chr6:12320204-12320205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187470234	chr6:12320211-12320212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145582526	chr6:12320221-12320222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80316794	chr6:12320256-12320257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12200712	chr6:12320276-12320277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145845910	chr6:12320277-12320278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558275620	chr6:12320281-12320282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370132733	chr6:12320319-12320320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9462666	chr6:12320327-12320328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561905561	chr6:12320351-12320352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561117335	chr6:12320355-12320356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576876084	chr6:12320376-12320377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202245346	chr6:12320380-12320381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369311020	chr6:12320381-12320382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200297996	chr6:12320388-12320389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78482247	chr6:12320389-12320390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4711655	chr6:12320393-12320394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12315200-12327800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:12317600-12320000	ZNF genes & repeats	A549	lung
3	chr6:12319000-12319800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:12319000-12320000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:12319200-12324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:12319400-12320200	Enhancers	GM12878-XiMat	blood
7	chr6:12319400-12324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:12319400-12324400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:12319400-12324400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:12319400-12325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:12319600-12324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:12319800-12324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:12320000-12321200	Weak transcription	A549	lung
14	chr6:12320000-12324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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