Variant report

Variant	esv3337612
Chromosome Location	chr6:39023843-39024430
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	chr6:39016886..39018824-chr6:39023068..39025617,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563142527	chr6:39023849-39023850	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10305434	chr6:39023903-39023904	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10305435	chr6:39023941-39023942	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145978508	chr6:39023973-39023974	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527820767	chr6:39024001-39024002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547866092	chr6:39024041-39024042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538282290	chr6:39024072-39024073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200116156	chr6:39024108-39024109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566357476	chr6:39024120-39024121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535253185	chr6:39024125-39024126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10305436	chr6:39024156-39024157	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375821449	chr6:39024191-39024192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148158586	chr6:39024198-39024199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142426070	chr6:39024199-39024200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200066279	chr6:39024208-39024209	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141990898	chr6:39024212-39024213	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200849157	chr6:39024213-39024214	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367903915	chr6:39024222-39024223	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201675748	chr6:39024224-39024225	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2295006	chr6:39024225-39024226	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs201231115	chr6:39024231-39024232	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150253529	chr6:39024237-39024238	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10305437	chr6:39024238-39024239	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201338954	chr6:39024252-39024253	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199816840	chr6:39024268-39024269	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200346220	chr6:39024302-39024303	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201343459	chr6:39024312-39024313	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113225507	chr6:39024329-39024330	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553816907	chr6:39024383-39024384	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574300951	chr6:39024420-39024421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39017200-39030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39017800-39026400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:39020000-39024000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:39020400-39025000	Weak transcription	Dnd41	blood
5	chr6:39021200-39072000	Weak transcription	Gastric	stomach
6	chr6:39022400-39025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:39022400-39026000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:39022400-39028000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:39022400-39028600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:39022600-39024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:39022800-39025600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:39022800-39026800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:39023000-39025000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:39023000-39026800	Weak transcription	Fetal Intestine Small	intestine
16	chr6:39023400-39025000	Weak transcription	Pancreas	Pancrea
17	chr6:39023400-39029200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:39023600-39024000	Enhancers	Right Atrium	heart
19	chr6:39023600-39024200	Enhancers	Left Ventricle	heart
20	chr6:39023800-39024000	Flanking Active TSS	Fetal Heart	heart
21	chr6:39023800-39025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:39023800-39025600	Enhancers	Right Ventricle	heart
23	chr6:39024000-39024200	Enhancers	Fetal Heart	heart
24	chr6:39024000-39024200	Strong transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:39024000-39027200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:39024000-39030000	Weak transcription	Right Atrium	heart
27	chr6:39024200-39024400	Flanking Active TSS	Fetal Heart	heart
28	chr6:39024200-39028400	Weak transcription	Left Ventricle	heart
29	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:39024400-39026200	Enhancers	Fetal Heart	heart

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