Variant report

Variant	nsv456298
Chromosome Location	chr14:47344432-47405064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:47354745-47355139	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:47354811-47355132	K562	blood:	n/a	n/a
3	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
4	BATF	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
5	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
6	CEBPB	chr14:47393718-47394047	IMR90	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
7	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
8	CEBPB	chr14:47380994-47381232	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:47404933-47405117	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:47404877-47405212	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
13	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
14	CEBPB	chr14:47404882-47405242	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
16	CEBPB	chr14:47393713-47394028	HepG2	liver:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
17	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
18	CEBPB	chr14:47393758-47394044	A549	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
19	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
20	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
21	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
22	CEBPB	chr14:47393770-47394030	H1-hESC	embryonic stem cell:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
23	CTCF	chr14:47389880-47390030	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr14:47389920-47390070	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr14:47389840-47389990	HEK293	kidney:	n/a	n/a
26	CTCF	chr14:47389860-47390010	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr14:47389840-47389990	BE2_C	brain:	n/a	n/a
28	CTCF	chr14:47393000-47393150	HCPEpiC	choroid plexus:	n/a	chr14:47393063-47393084
29	CTCF	chr14:47392989-47393116	Medullo	brain:	n/a	chr14:47393063-47393084
30	CTCF	chr14:47389880-47390030	GM12864	blood:	n/a	n/a
31	CTCF	chr14:47389840-47389990	HL-60	blood:	n/a	n/a
32	CTCF	chr14:47389740-47389890	HAc	cerebellar:	n/a	n/a
33	CTCF	chr14:47404360-47404510	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr14:47389820-47389970	GM12874	blood:	n/a	n/a
35	CTCF	chr14:47389800-47389950	GM12873	blood:	n/a	n/a
36	CTCF	chr14:47393059-47393085	HUVEC	blood vessel:	n/a	chr14:47393063-47393084
37	CTCF	chr14:47389980-47390130	HMF	breast:	n/a	n/a
38	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
39	CTCF	chr14:47389900-47390050	HRE	kidney:	n/a	n/a
40	CTCF	chr14:47381169-47381171	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:47389940-47390090	GM12866	blood:	n/a	n/a
42	CTCF	chr14:47389920-47390070	GM12872	blood:	n/a	n/a
43	CTCF	chr14:47389920-47390070	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:47385065-47385094	GM20000	blood:	n/a	n/a
45	CTCF	chr14:47389939-47389992	GM20000	blood:	n/a	n/a
46	CTCF	chr14:47389940-47390090	RPTEC	kidney:	n/a	n/a
47	CTCF	chr14:47393020-47393170	BE2_C	brain:	n/a	chr14:47393063-47393084
48	CTCF	chr14:47389880-47390030	RPTEC	kidney:	n/a	n/a
49	CTCF	chr14:47389840-47389990	GM12875	blood:	n/a	n/a
50	CTCF	chr14:47389800-47389950	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:47401862..47402382-chr2:190007804..190008571,2	MCF-7	breast:

Variant related genes	Relation type
MDGA2	TF binding region

Extended variants
information (count: 828 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552741	chr14:47344432-47344433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186466713	chr14:47344502-47344503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577520201	chr14:47344524-47344525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561815181	chr14:47344530-47344531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28450910	chr14:47344559-47344560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563684361	chr14:47344604-47344605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375494994	chr14:47344640-47344641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142271533	chr14:47344704-47344705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542932334	chr14:47344750-47344751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577751323	chr14:47344823-47344824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71418119	chr14:47344831-47344832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528320639	chr14:47344869-47344870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546454607	chr14:47344926-47344927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190601116	chr14:47344954-47344955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553695221	chr14:47344960-47344961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573507351	chr14:47344977-47344978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550221100	chr14:47344986-47344987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182846436	chr14:47345109-47345110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535838724	chr14:47345116-47345117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549685273	chr14:47345130-47345131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567843131	chr14:47345179-47345180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371342728	chr14:47345237-47345238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535270369	chr14:47345264-47345265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187749838	chr14:47345357-47345358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146031266	chr14:47345386-47345387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578188620	chr14:47345387-47345388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73252349	chr14:47345405-47345406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562125731	chr14:47345466-47345467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139954247	chr14:47345498-47345499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143401370	chr14:47345596-47345597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192886368	chr14:47345609-47345610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561262090	chr14:47345610-47345611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112714927	chr14:47345657-47345658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544695322	chr14:47345689-47345690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540461074	chr14:47345703-47345704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146735162	chr14:47345711-47345712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532127876	chr14:47345731-47345732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550282503	chr14:47345736-47345737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562229659	chr14:47345823-47345824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182640309	chr14:47345831-47345832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547875630	chr14:47345859-47345860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532164662	chr14:47345908-47345909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35355047	chr14:47345909-47345910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551998704	chr14:47345912-47345913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140281997	chr14:47345913-47345914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187285210	chr14:47345916-47345917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397853229	chr14:47345917-47345918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192146688	chr14:47345933-47345934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149915982	chr14:47345990-47345991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539203262	chr14:47346027-47346028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47339800-47348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47348600-47349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:47349200-47349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:47349600-47353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:47353400-47355200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:47363800-47366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:47371800-47372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:47371800-47372600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:47372200-47372600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:47372400-47376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:47372600-47376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:47376800-47377400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:47376800-47377400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:47376800-47377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:47376800-47377400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:47384800-47385200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:47391400-47392000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:47391600-47393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:47404400-47405000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links