Variant report

Variant	nsv969350
Chromosome Location	chr6:13517777-13522974
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	ARID3A	chr6:13517443-13517812	HepG2	liver:	n/a	n/a
2	BCL3	chr6:13518956-13519406	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:13517345-13517893	MCF-7	breast:	n/a	chr6:13517619-13517630
4	CEBPB	chr6:13517441-13517804	HepG2	liver:	n/a	chr6:13517619-13517630
5	E2F4	chr6:13522934-13523274	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr6:13522806-13523381	SK-N-SH	brain:	n/a	chr6:13523150-13523164
7	FOS	chr6:13521832-13522033	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:13522870-13523295	MCF10A-Er-Src	breast:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
9	FOS	chr6:13522900-13523229	MCF10A-Er-Src	breast:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
10	FOS	chr6:13522792-13523280	MCF10A-Er-Src	breast:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
11	FOS	chr6:13521893-13521975	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:13522429-13523298	HUVEC	blood vessel:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
13	FOS	chr6:13522793-13523288	MCF10A-Er-Src	breast:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
14	FOSL2	chr6:13522729-13523377	SK-N-SH	brain:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
15	GATA2	chr6:13522815-13523383	HUVEC	blood vessel:	n/a	n/a
16	GATA3	chr6:13522781-13523363	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr6:13517072-13517933	MCF-7	breast:	n/a	n/a
18	GATA3	chr6:13522711-13523398	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr6:13517157-13517901	MCF-7	breast:	n/a	n/a
20	JUN	chr6:13521881-13522008	HepG2	liver:	n/a	n/a
21	JUN	chr6:13520334-13520459	HepG2	liver:	n/a	chr6:13520348-13520361
22	JUN	chr6:13522823-13523276	HUVEC	blood vessel:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
23	JUND	chr6:13522824-13523327	SK-N-SH	brain:	n/a	chr6:13523087-13523095 chr6:13523087-13523094
24	JUND	chr6:13521804-13522004	HepG2	liver:	n/a	chr6:13521908-13521919
25	NR2F2	chr6:13517276-13517824	MCF-7	breast:	n/a	n/a
26	PBX3	chr6:13522724-13523339	SK-N-SH	brain:	n/a	n/a
27	PBX3	chr6:13517272-13517848	SK-N-SH	brain:	n/a	n/a
28	PBX3	chr6:13522847-13523329	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr6:13522755-13523267	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr6:13522719-13523230	HUVEC	blood vessel:	n/a	n/a
31	STAT3	chr6:13522809-13523255	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:13519541-13519585	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:13522841-13523277	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:13522883-13523243	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr6:13522898-13523243	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF12	chr6:13522699-13523397	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13522682..13524760-chr6:13529345..13531013,2	MCF-7	breast:
2	chr6:13485719..13487951-chr6:13517533..13519891,2	MCF-7	breast:
3	chr6:13509314..13512710-chr6:13515099..13518078,3	MCF-7	breast:

Variant related genes	Relation type
RPS4XP7	TF binding region
ENSG00000187461	chromatin interactions
ENSG00000145990	chromatin interactions
ENSG00000237786	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138299836	chr6:13517788-13517789	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs199600986	chr6:13517793-13517794	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs562609192	chr6:13517847-13517848	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs192949184	chr6:13517885-13517886	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs9474387	chr6:13517912-13517913	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144281029	chr6:13517974-13517975	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532089165	chr6:13518056-13518057	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562668717	chr6:13518067-13518068	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531518827	chr6:13518082-13518083	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs115862948	chr6:13518125-13518126	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72826990	chr6:13518131-13518132	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368283389	chr6:13518152-13518153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548895909	chr6:13518153-13518154	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs143215389	chr6:13518159-13518160	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs147500551	chr6:13518161-13518162	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs59696155	chr6:13518174-13518175	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570818682	chr6:13518190-13518191	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs185148800	chr6:13518192-13518193	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs553499844	chr6:13518213-13518214	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs189368248	chr6:13518289-13518290	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs62385844	chr6:13518318-13518319	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200501370	chr6:13518320-13518321	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs554722187	chr6:13518340-13518341	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376341051	chr6:13518360-13518361	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564228085	chr6:13518395-13518396	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150940710	chr6:13518422-13518423	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs562988342	chr6:13518423-13518424	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113666417	chr6:13518453-13518454	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs10948735	chr6:13518499-13518500	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73372879	chr6:13518529-13518530	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528151813	chr6:13518553-13518554	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs368783464	chr6:13518584-13518585	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373177311	chr6:13518644-13518645	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548517222	chr6:13518645-13518646	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568590623	chr6:13518675-13518676	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4715379	chr6:13518729-13518730	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149705827	chr6:13518732-13518733	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs113891646	chr6:13518736-13518737	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs569427575	chr6:13518743-13518744	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs181735264	chr6:13518767-13518768	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76835409	chr6:13518769-13518770	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539465330	chr6:13518780-13518781	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs186254743	chr6:13518788-13518789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs4715380	chr6:13518789-13518790	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113935796	chr6:13518869-13518870	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574569194	chr6:13518888-13518889	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543362534	chr6:13518921-13518922	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12204301	chr6:13518929-13518930	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs201810722	chr6:13518945-13518946	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs149118700	chr6:13518961-13518962	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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	21448237	CNVD
Autism	22495311	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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13513000-13527200	Weak transcription	Right Atrium	heart
2	chr6:13514400-13524400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:13516800-13517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:13517000-13517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:13517000-13517800	Enhancers	HUVEC	blood vessel
6	chr6:13517000-13518000	Enhancers	NHEK	skin
7	chr6:13517200-13517800	Bivalent Enhancer	HepG2	liver
8	chr6:13517200-13517800	Enhancers	HMEC	breast
9	chr6:13517200-13524000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:13517400-13518000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:13517800-13521600	Weak transcription	HUVEC	blood vessel
12	chr6:13517800-13524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:13518000-13521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:13519200-13519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:13519400-13523200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:13521600-13523400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:13521600-13523400	Enhancers	NHEK	skin
18	chr6:13521600-13529200	Enhancers	HUVEC	blood vessel
19	chr6:13521800-13522200	Enhancers	Spleen	Spleen
20	chr6:13522200-13524000	Weak transcription	Spleen	Spleen
21	chr6:13522200-13524400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:13522600-13522800	Enhancers	Fetal Brain Male	brain
23	chr6:13522600-13523400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:13522800-13523400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:13522800-13523400	Enhancers	Osteobl	bone
26	chr6:13522800-13525000	Weak transcription	Fetal Brain Male	brain
27	chr6:13522800-13527200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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