Variant report

Variant	esv3394931
Chromosome Location	chr3:49189548-49193146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49189291..49191828-chr3:49198184..49200998,3	MCF-7	breast:
2	chr3:49187904..49189421-chr3:49189725..49191505,2	MCF-7	breast:
3	chr3:49057515..49059041-chr3:49190402..49192580,2	MCF-7	breast:
4	chr3:49192110..49194166-chr3:49199747..49201408,2	MCF-7	breast:
5	chr3:49189882..49192619-chr3:49194424..49197107,3	MCF-7	breast:
6	chr3:49191307..49193110-chr3:49202921..49204908,2	MCF-7	breast:
7	chr3:49130528..49132725-chr3:49190413..49192087,2	K562	blood:
8	chr3:49188624..49190754-chr3:49194222..49196176,2	K562	blood:
9	chr3:49189296..49192749-chr3:49200382..49204173,5	K562	blood:
10	chr3:49189254..49193305-chr3:49194676..49199783,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC71-1	chr3:49190292-49191834	NONHSAT089678

No data

Variant related genes	Relation type
ENSG00000207605	chromatin interactions
ENSG00000198218	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000270441	chromatin interactions
ENSG00000177352	chromatin interactions
ENSG00000199032	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187881040	chr3:49189550-49189551	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551043386	chr3:49189551-49189552	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191586186	chr3:49189562-49189563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35983267	chr3:49189611-49189612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28615670	chr3:49189612-49189613	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567458052	chr3:49189625-49189626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565687015	chr3:49189655-49189656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75443297	chr3:49189711-49189712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538110672	chr3:49189722-49189723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372494714	chr3:49189786-49189787	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569260371	chr3:49189797-49189798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573717423	chr3:49189836-49189837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539096365	chr3:49189869-49189870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192853926	chr3:49189892-49189893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184648291	chr3:49189934-49189935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544822734	chr3:49189935-49189936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573428181	chr3:49189938-49189939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563386333	chr3:49189939-49189940	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148053850	chr3:49189982-49189983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555884686	chr3:49190011-49190012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536260227	chr3:49190027-49190028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574014038	chr3:49190061-49190062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369958225	chr3:49190063-49190064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562176543	chr3:49190150-49190151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373453368	chr3:49190170-49190171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576714349	chr3:49190180-49190181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543601987	chr3:49190189-49190190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527338144	chr3:49190239-49190240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548906655	chr3:49190267-49190268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567421823	chr3:49190309-49190310	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs531671667	chr3:49190320-49190321	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs550077802	chr3:49190330-49190331	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs186766227	chr3:49190371-49190372	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs539834915	chr3:49190389-49190390	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs141737901	chr3:49190409-49190410	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs371104939	chr3:49190448-49190449	Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs566857139	chr3:49190449-49190450	Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs555551737	chr3:49190469-49190470	Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs150552153	chr3:49190548-49190549	Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs555696475	chr3:49190561-49190562	Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs36089774	chr3:49190651-49190652	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs117239217	chr3:49190654-49190655	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs191253874	chr3:49190732-49190733	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs559623214	chr3:49190758-49190759	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs139328619	chr3:49190830-49190831	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs556433856	chr3:49190926-49190927	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs577258293	chr3:49191054-49191055	Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs544686582	chr3:49191071-49191072	Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs80337825	chr3:49191075-49191076	Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs572063040	chr3:49191101-49191102	Weak transcription Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49172200-49200400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:49186000-49190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:49186000-49191200	Weak transcription	Gastric	stomach
4	chr3:49186200-49198800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:49186800-49198800	Weak transcription	Pancreas	Pancrea
6	chr3:49187800-49191200	Weak transcription	Esophagus	oesophagus
7	chr3:49189400-49189600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:49189600-49190600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:49190000-49195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:49190400-49190600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:49190600-49190800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:49190600-49191000	Enhancers	Ovary	ovary
13	chr3:49190800-49191000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:49190800-49191400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:49191000-49198800	Weak transcription	Ovary	ovary
16	chr3:49191000-49199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:49191200-49191400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:49191200-49191400	Enhancers	Gastric	stomach
19	chr3:49191200-49191600	Enhancers	Esophagus	oesophagus
20	chr3:49191400-49192000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:49191400-49198800	Weak transcription	Gastric	stomach
22	chr3:49191400-49199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:49191600-49200200	Weak transcription	Esophagus	oesophagus
24	chr3:49192000-49192200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:49192000-49198000	Weak transcription	Thymus	Thymus
26	chr3:49192200-49198600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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