Variant report

Variant	esv2762579
Chromosome Location	chr6:14009619-14011791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14008164..14010446-chr6:14020010..14022121,2	K562	blood:
2	chr3:12382780..12383530-chr6:14010222..14010828,2	MCF-7	breast:
3	chr6:14009591..14012613-chr6:14015214..14017538,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4715861	chr6:14009619-14009620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs191351872	chr6:14009651-14009652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556591134	chr6:14009677-14009678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183227215	chr6:14009682-14009683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577885242	chr6:14009709-14009710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539020806	chr6:14009713-14009714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545361606	chr6:14009727-14009728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142894373	chr6:14009743-14009744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573463238	chr6:14009753-14009754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188235175	chr6:14009795-14009796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192925542	chr6:14009848-14009849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531059453	chr6:14009888-14009889	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76199940	chr6:14009904-14009905	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556114105	chr6:14010005-14010006	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564537234	chr6:14010026-14010027	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372825546	chr6:14010049-14010050	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375503815	chr6:14010052-14010053	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35722369	chr6:14010057-14010058	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374774923	chr6:14010105-14010106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546995599	chr6:14010116-14010117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566784363	chr6:14010117-14010118	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs742212	chr6:14010124-14010125	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10456193	chr6:14010156-14010157	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs35756346	chr6:14010178-14010179	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368096745	chr6:14010213-14010214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80214455	chr6:14010298-14010299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185100981	chr6:14010322-14010323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556755834	chr6:14010336-14010337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77955180	chr6:14010339-14010340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539178839	chr6:14010351-14010352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552918284	chr6:14010354-14010355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572792508	chr6:14010442-14010443	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146059345	chr6:14010480-14010481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79111828	chr6:14010504-14010505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs760767	chr6:14010519-14010520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116273298	chr6:14010543-14010544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564697306	chr6:14010544-14010545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533449997	chr6:14010571-14010572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540408760	chr6:14010599-14010600	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560532413	chr6:14010688-14010689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189413697	chr6:14010695-14010696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549366296	chr6:14010702-14010703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192362138	chr6:14010713-14010714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530737412	chr6:14010725-14010726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550341804	chr6:14010781-14010782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562946224	chr6:14010800-14010801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528607042	chr6:14010871-14010872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539138062	chr6:14010884-14010885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552839731	chr6:14010981-14010982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566566138	chr6:14011048-14011049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Autism	22495311	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
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14003000-14012800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:14008200-14011000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:14008400-14009800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:14008600-14010400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:14008600-14011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:14009000-14010600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:14009200-14010800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:14009200-14011000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:14009400-14009800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:14009400-14009800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:14009400-14010400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:14009400-14010400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:14009400-14010600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:14009600-14010000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:14009600-14010200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:14009600-14010600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:14009800-14010000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:14009800-14010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:14009800-14010200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:14010000-14010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:14010200-14011000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:14010400-14010600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:14010400-14012800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:14010400-14015800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:14011000-14012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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