Variant report

Variant	nsv901868
Chromosome Location	chr14:46825242-46903272
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	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
2	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:

Extended variants
information (count: 1365 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551487175	chr14:46836820-46836821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117622471	chr14:46836825-46836826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561051698	chr14:46836830-46836831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147027899	chr14:46836842-46836843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554956857	chr14:46836868-46836869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192764279	chr14:46836877-46836878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536192403	chr14:46836878-46836879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554063139	chr14:46836937-46836938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151228300	chr14:46836965-46836966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111978601	chr14:46836967-46836968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564547480	chr14:46836969-46836970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565575295	chr14:46836995-46836996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190779901	chr14:46836996-46836997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8022274	chr14:46837024-46837025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140355827	chr14:46837080-46837081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562065074	chr14:46837106-46837107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2415974	chr14:46837112-46837113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182018179	chr14:46837129-46837130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2415975	chr14:46837139-46837140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533180374	chr14:46837170-46837171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551308689	chr14:46837174-46837175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533875556	chr14:46837210-46837211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113394157	chr14:46837216-46837217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184684426	chr14:46837219-46837220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370871954	chr14:46837225-46837226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562925073	chr14:46837230-46837231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548568004	chr14:46837268-46837269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566966076	chr14:46837291-46837292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535758110	chr14:46837296-46837297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs8022654	chr14:46837297-46837298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554478999	chr14:46837319-46837320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572674322	chr14:46837343-46837344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539990945	chr14:46837346-46837347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532309459	chr14:46837431-46837432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533762170	chr14:46837434-46837435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150373326	chr14:46837448-46837449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372147905	chr14:46837450-46837451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374911714	chr14:46837471-46837472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59346212	chr14:46837477-46837478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543977505	chr14:46837494-46837495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536651580	chr14:46837495-46837496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555787517	chr14:46837520-46837521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8003189	chr14:46837530-46837531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115118705	chr14:46837544-46837545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138057861	chr14:46837552-46837553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142533972	chr14:46837575-46837576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189097828	chr14:46837614-46837615	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111325447	chr14:46837620-46837621	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181437980	chr14:46837624-46837625	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369614460	chr14:46837627-46837628	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46836800-46838000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:46837400-46839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:46837600-46838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:46838000-46838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:46838200-46838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:46838800-46839000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:46838800-46839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:46844800-46845000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:46845600-46847600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:46846200-46846400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr14:46846200-46846800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:46846200-46846800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:46846200-46847200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr14:46846200-46847200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:46846400-46846800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:46846400-46847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:46846400-46847200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:46846400-46847200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:46846600-46850800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:46846800-46848000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:46847200-46847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:46847200-46850400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:46847200-46850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:46847600-46847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:46847600-46850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:46847800-46850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:46850400-46851000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:46850400-46851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:46850400-46851600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:46850400-46852000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:46850600-46851400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:46850600-46851400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:46850800-46851200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:46850800-46851200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr14:46850800-46851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:46851600-46854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:46852000-46855000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:46854800-46855200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:46855000-46855400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:46866400-46866600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:46866400-46867200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:46866800-46868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:46867200-46868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:46868400-46868800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr14:46868400-46869200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:46868400-46869200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:46868400-46869800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:46868600-46869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:46869000-46869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:46869200-46871000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links