Variant report

Variant	esv1823824
Chromosome Location	chr6:32272310-32277479
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	chr6:32251349..32253695-chr6:32277418..32279197,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12660769	chr6:32272310-32272311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9268165	chr6:32272327-32272328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562540165	chr6:32272411-32272412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9268166	chr6:32272433-32272434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9268167	chr6:32272437-32272438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185663703	chr6:32272443-32272444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114240090	chr6:32272446-32272447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370441048	chr6:32272447-32272448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189344882	chr6:32272448-32272449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191343118	chr6:32272486-32272487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9268168	chr6:32272510-32272511	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs80273712	chr6:32272545-32272546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374613067	chr6:32272569-32272570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571685265	chr6:32272618-32272619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369462644	chr6:32272620-32272621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537734896	chr6:32272622-32272623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9268169	chr6:32272707-32272708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9268170	chr6:32272711-32272712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs572406332	chr6:32272769-32272770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551119890	chr6:32272778-32272779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183836877	chr6:32272788-32272789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148236499	chr6:32272815-32272816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576547410	chr6:32272934-32272935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544324394	chr6:32273020-32273021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543530222	chr6:32273069-32273070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386699274	chr6:32273077-32273078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9268172	chr6:32273085-32273086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560143473	chr6:32273141-32273142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6915879	chr6:32273198-32273199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561164359	chr6:32273208-32273209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114613584	chr6:32273317-32273318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549912191	chr6:32273348-32273349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571416267	chr6:32273384-32273385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532421009	chr6:32273469-32273470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7341270	chr6:32273487-32273488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188563020	chr6:32273492-32273493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150647708	chr6:32273493-32273494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554945233	chr6:32273526-32273527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570303012	chr6:32273557-32273558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537264443	chr6:32273564-32273565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559067927	chr6:32273566-32273567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577816695	chr6:32273606-32273607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115047793	chr6:32273716-32273717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553837934	chr6:32273751-32273752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6457536	chr6:32273765-32273766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542579784	chr6:32273799-32273800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561040582	chr6:32273808-32273809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118177105	chr6:32273836-32273837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543253638	chr6:32273863-32273864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138801475	chr6:32273938-32273939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32263800-32273400	Weak transcription	Ovary	ovary
2	chr6:32270400-32273000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:32270600-32273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:32271000-32273000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:32271000-32273000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:32271200-32274000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:32271400-32272800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:32273000-32274000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:32273400-32274000	Enhancers	Ovary	ovary
10	chr6:32274000-32274200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:32274000-32274200	Enhancers	Fetal Kidney	kidney
12	chr6:32274000-32274200	Flanking Active TSS	Ovary	ovary
13	chr6:32274000-32274400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:32274200-32274400	Active TSS	Ovary	ovary
15	chr6:32274400-32276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:32274400-32279200	Weak transcription	Ovary	ovary
17	chr6:32275800-32281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:32276800-32277000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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