Variant report

Variant	esv3386929
Chromosome Location	chr3:50156348-50161346
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50158572..50161152-chr3:50232381..50234438,2	MCF-7	breast:
2	chr3:50159011..50159688-chr3:50191786..50192464,2	MCF-7	breast:
3	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:
4	chr3:50160874..50163640-chr3:50208443..50212191,3	MCF-7	breast:
5	chr3:50158625..50159212-chr3:50263622..50264247,2	K562	blood:
6	chr3:50159501..50162170-chr3:50213209..50216428,3	K562	blood:
7	chr3:50159863..50162699-chr3:50227102..50229015,2	MCF-7	breast:
8	chr3:50160633..50161384-chr3:50188351..50188921,2	MCF-7	breast:
9	chr3:50161160..50162683-chr3:50271555..50274143,2	MCF-7	breast:
10	chr3:50157579..50160318-chr3:50233509..50235124,2	MCF-7	breast:
11	chr3:50160721..50162724-chr3:50168795..50173383,5	K562	blood:
12	chr3:50157617..50159229-chr3:50261958..50264421,2	MCF-7	breast:
13	chr3:50157403..50159553-chr3:50273403..50275024,2	K562	blood:
14	chr3:50153410..50155870-chr3:50157177..50159023,3	K562	blood:
15	chr3:50159053..50159645-chr3:50263405..50264051,2	MCF-7	breast:
16	chr3:50154064..50156374-chr3:50184030..50185702,2	MCF-7	breast:
17	chr3:50158714..50160101-chr3:50225873..50227682,16	MCF-7	breast:
18	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
19	chr3:50159119..50159942-chr3:50191580..50192142,2	MCF-7	breast:
20	chr3:50158918..50160080-chr3:50361713..50362403,3	K562	blood:
21	chr3:50159634..50161938-chr3:50227980..50230309,2	K562	blood:
22	chr3:50158102..50159885-chr3:50296008..50298288,2	MCF-7	breast:
23	chr3:50159660..50164036-chr3:50192840..50194687,5	MCF-7	breast:
24	chr3:50161300..50163134-chr3:50195216..50197721,2	MCF-7	breast:
25	chr3:50160600..50163125-chr3:50165110..50166972,2	K562	blood:
26	chr3:50157801..50161419-chr3:50224013..50228566,6	MCF-7	breast:
27	chr3:50126403..50128325-chr3:50160017..50162244,2	K562	blood:
28	chr3:50160797..50162684-chr3:50168795..50170458,2	K562	blood:
29	chr3:50150753..50152851-chr3:50154115..50156768,2	K562	blood:
30	chr3:50158688..50160030-chr3:50191274..50192403,3	MCF-7	breast:
31	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
32	chr3:50131320..50133089-chr3:50157321..50159844,2	K562	blood:
33	chr3:50161158..50162921-chr3:50305977..50308672,2	MCF-7	breast:
34	chr3:50160236..50162661-chr3:50199284..50201968,2	MCF-7	breast:
35	chr3:50157983..50159948-chr3:50231806..50233770,3	K562	blood:
36	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
37	chr3:50158552..50159685-chr3:50226139..50227732,7	K562	blood:
38	chr3:50159116..50159819-chr3:50183361..50183915,2	MCF-7	breast:
39	chr3:50159456..50162319-chr3:50219571..50221770,3	K562	blood:
40	chr3:50157879..50160528-chr3:50162974..50166130,4	K562	blood:
41	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
42	chr3:50156913..50158492-chr3:50221059..50222752,2	K562	blood:
43	chr3:50158689..50159190-chr3:50263373..50264087,2	MCF-7	breast:
44	chr3:50126440..50128004-chr3:50161064..50162835,2	MCF-7	breast:
45	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:
46	chr3:50159501..50161676-chr3:50213209..50215105,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000003756	chromatin interactions
ENSG00000230454	chromatin interactions
ENSG00000235016	chromatin interactions
ENSG00000207922	chromatin interactions
ENSG00000001617	chromatin interactions
ENSG00000114349	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000114353	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs192731759	chr3:50156437-50156438	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544392021	chr3:50156500-50156501	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572562083	chr3:50156503-50156504	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562899199	chr3:50156562-50156563	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577719974	chr3:50156585-50156586	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538616932	chr3:50156601-50156602	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553826270	chr3:50156639-50156640	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530317440	chr3:50156683-50156684	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368757664	chr3:50156685-50156686	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373900309	chr3:50156688-50156689	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377551058	chr3:50156693-50156694	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2624829	chr3:50156695-50156696	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs560669892	chr3:50156731-50156732	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560762817	chr3:50156741-50156742	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575804757	chr3:50156746-50156747	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184853601	chr3:50156787-50156788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187780254	chr3:50156857-50156858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11715143	chr3:50156907-50156908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191355903	chr3:50156913-50156914	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547561244	chr3:50156935-50156936	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368001343	chr3:50156964-50156965	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551750244	chr3:50157015-50157016	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12636045	chr3:50157112-50157113	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138007174	chr3:50157129-50157130	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183657918	chr3:50157136-50157137	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567883798	chr3:50157137-50157138	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552653948	chr3:50157139-50157140	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189542235	chr3:50157146-50157147	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs17050922	chr3:50157235-50157236	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs571358975	chr3:50157333-50157334	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142013689	chr3:50157376-50157377	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553711021	chr3:50157411-50157412	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs377311034	chr3:50157449-50157450	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571911500	chr3:50157500-50157501	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs192355625	chr3:50157583-50157584	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs367544996	chr3:50157603-50157604	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs57706137	chr3:50157644-50157645	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs75991442	chr3:50157668-50157669	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs575841676	chr3:50157675-50157676	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538897328	chr3:50157712-50157713	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530748498	chr3:50157735-50157736	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185207190	chr3:50157769-50157770	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs543929268	chr3:50157798-50157799	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs556287161	chr3:50157893-50157894	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs12636232	chr3:50157895-50157896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs545108689	chr3:50157936-50157937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs529636426	chr3:50157984-50157985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs560552209	chr3:50158007-50158008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs71868847	chr3:50158047-50158048	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs527659288	chr3:50158049-50158050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50127800-50157800	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr3:50128000-50157800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:50128000-50158000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:50128000-50158000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:50128200-50158800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:50128400-50157800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:50128400-50158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:50128400-50158400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:50128400-50159000	Strong transcription	Lung	lung
10	chr3:50128600-50158000	Strong transcription	NH-A	brain
11	chr3:50128600-50158400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:50128600-50158400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:50128600-50158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:50128600-50158600	Strong transcription	Colonic Mucosa	Colon
15	chr3:50128600-50158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:50128600-50158800	Strong transcription	Brain Germinal Matrix	brain
17	chr3:50128600-50158800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr3:50128600-50159000	Strong transcription	Brain Angular Gyrus	brain
19	chr3:50128600-50159000	Strong transcription	Placenta	Placenta
20	chr3:50128600-50159000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:50128600-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:50128600-50159200	Strong transcription	Liver	Liver
23	chr3:50128600-50159200	Strong transcription	NHEK	skin
24	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
25	chr3:50128800-50156600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:50128800-50156600	Strong transcription	Brain Substantia Nigra	brain
27	chr3:50128800-50158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:50128800-50158600	Strong transcription	HMEC	breast
29	chr3:50128800-50159000	Strong transcription	Brain Anterior Caudate	brain
30	chr3:50129000-50158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:50129000-50158600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:50129000-50158800	Strong transcription	Fetal Intestine Large	intestine
33	chr3:50129000-50159000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:50129000-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:50129000-50159200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:50129000-50159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:50129000-50159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:50129000-50160000	Strong transcription	Fetal Stomach	stomach
39	chr3:50129000-50160000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:50129200-50157600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:50129200-50158600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:50129200-50158800	Strong transcription	Primary B cells from cord blood	blood
44	chr3:50129200-50158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:50129200-50158800	Strong transcription	Brain Hippocampus Middle	brain
46	chr3:50129200-50159000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:50129200-50159600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:50129200-50160000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:50129200-50160200	Strong transcription	Fetal Brain Female	brain
50	chr3:50129400-50158800	Strong transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links