Variant report

Variant	nsv2216
Chromosome Location	chr18:14776359-14841989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14780275-14780305	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr18:14781806-14781817	GM20000	blood:	n/a	n/a
3	CTCF	chr18:14815184-14815219	GM13977	blood:	n/a	n/a
4	CTCF	chr18:14791645-14791680	Lung_OC	lung:	n/a	n/a
5	CTCF	chr18:14841354-14841383	GM13976	blood:	n/a	n/a
6	CTCF	chr18:14828865-14828959	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr18:14798303-14798342	Medullo	brain:	n/a	n/a
8	CTCF	chr18:14803342-14803401	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr18:14802629-14802717	GM20000	blood:	n/a	n/a
10	CTCF	chr18:14781785-14781801	GM20000	blood:	n/a	n/a
11	CTCF	chr18:14783033-14783063	GM20000	blood:	n/a	n/a
12	CTCF	chr18:14840799-14840888	Medullo	brain:	n/a	n/a
13	CTCF	chr18:14776486-14776537	GM13976	blood:	n/a	n/a
14	CTCF	chr18:14792167-14792246	GM13977	blood:	n/a	n/a
15	EP300	chr18:14784033-14784461	MCF-7	breast:	n/a	n/a
16	EP300	chr18:14783901-14784744	T-47D	breast:	n/a	n/a
17	EP300	chr18:14798417-14798722	T-47D	breast:	n/a	n/a
18	EP300	chr18:14784022-14784514	T-47D	breast:	n/a	n/a
19	EP300	chr18:14781715-14782251	T-47D	breast:	n/a	n/a
20	EP300	chr18:14809353-14809653	T-47D	breast:	n/a	n/a
21	EP300	chr18:14796773-14797189	T-47D	breast:	n/a	n/a
22	EP300	chr18:14797960-14798337	T-47D	breast:	n/a	n/a
23	EP300	chr18:14798390-14798776	T-47D	breast:	n/a	n/a
24	ESR1	chr18:14781684-14782220	T-47D	breast:	n/a	n/a
25	ESR1	chr18:14784031-14784543	T-47D	breast:	n/a	n/a
26	ESR1	chr18:14784014-14784667	T-47D	breast:	n/a	n/a
27	ESR1	chr18:14781747-14782158	T-47D	breast:	n/a	n/a
28	ESR1	chr18:14783973-14784464	T-47D	breast:	n/a	n/a
29	ESR1	chr18:14784070-14784449	T-47D	breast:	n/a	n/a
30	FOS	chr18:14827066-14827423	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr18:14826963-14827427	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr18:14827083-14827425	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr18:14826950-14827427	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr18:14798442-14798693	T-47D	breast:	n/a	n/a
35	FOXA1	chr18:14783972-14784676	T-47D	breast:	n/a	chr18:14784187-14784199 chr18:14784289-14784304
36	FOXA1	chr18:14780903-14781119	T-47D	breast:	n/a	n/a
37	FOXA1	chr18:14784021-14784549	T-47D	breast:	n/a	chr18:14784187-14784199 chr18:14784289-14784304
38	FOXA1	chr18:14781616-14782140	T-47D	breast:	n/a	n/a
39	FOXA1	chr18:14781625-14782119	T-47D	breast:	n/a	n/a
40	FOXA1	chr18:14781613-14782100	HepG2	liver:	n/a	n/a
41	FOXA1	chr18:14798036-14798240	T-47D	breast:	n/a	n/a
42	FOXA2	chr18:14822857-14823231	A549	lung:	n/a	n/a
43	FOXA2	chr18:14822873-14823017	A549	lung:	n/a	n/a
44	FOXM1	chr18:14784144-14784389	MCF-7	breast:	n/a	n/a
45	GATA3	chr18:14796551-14796859	T-47D	breast:	n/a	n/a
46	GATA3	chr18:14783899-14784707	T-47D	breast:	n/a	n/a
47	GATA3	chr18:14796856-14797184	T-47D	breast:	n/a	n/a
48	GATA3	chr18:14783984-14784530	MCF-7	breast:	n/a	n/a
49	GATA3	chr18:14797953-14798300	T-47D	breast:	n/a	chr18:14798027-14798048
50	GATA3	chr18:14798140-14798921	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-2	chr18:14816150-14816636	ENSG00000265737.1
2	lnc-ANKRD30B-8	chr18:14797660-14797688	NONHSAT058529
3	lnc-POTEC-2	chr18:14825150-14825248	ENSG00000265737.1
4	lnc-ANKRD30B-8	chr18:14808671-14808730	NONHSAT058529
5	lnc-ANKRD30B-8	chr18:14808550-14808578	NONHSAT058529
6	lnc-ANKRD30B-8	chr18:14797781-14797853	NONHSAT058529

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3156-5p	chr18:14830173-14830194	MIMAT0015030_1
hsa-miR-3156-3p	chr18:14830214-14830234	MIMAT0019209_1

No data

Variant related genes	Relation type
MIR3156-2	TF binding region
ANKRD30B	TF binding region
ENSG00000265737	TF binding region
GNS	miRNA target sites
GOLGA3	miRNA target sites
GNPTAB	miRNA target sites

Extended variants
information (count: 2576 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2576 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576180217	chr18:14776389-14776390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545001428	chr18:14776392-14776393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375393692	chr18:14776393-14776394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577798989	chr18:14776394-14776395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189998266	chr18:14776395-14776396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527547126	chr18:14776413-14776414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144599494	chr18:14776433-14776434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73959405	chr18:14776496-14776497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369830574	chr18:14776521-14776522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530143634	chr18:14776553-14776554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550240101	chr18:14776658-14776659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570201914	chr18:14776676-14776677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532719477	chr18:14776681-14776682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115689346	chr18:14776682-14776683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201133048	chr18:14776732-14776733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192646094	chr18:14776750-14776751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575353652	chr18:14776751-14776752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184422781	chr18:14776754-14776755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542598644	chr18:14776758-14776759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553809446	chr18:14776779-14776780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574471818	chr18:14776802-14776803	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567259304	chr18:14776856-14776857	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536007040	chr18:14776899-14776900	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372405150	chr18:14776902-14776903	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564358160	chr18:14776913-14776914	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556200078	chr18:14776928-14776929	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11875716	chr18:14776933-14776934	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377548676	chr18:14776952-14776953	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545203152	chr18:14776973-14776974	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145402295	chr18:14777001-14777002	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189031913	chr18:14777023-14777024	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374789752	chr18:14777028-14777029	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540887125	chr18:14777044-14777045	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560988814	chr18:14777045-14777046	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145253861	chr18:14777058-14777059	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148874600	chr18:14777064-14777065	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563789674	chr18:14777095-14777096	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532468362	chr18:14777114-14777115	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561155267	chr18:14777146-14777147	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181431088	chr18:14777200-14777201	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184749514	chr18:14777210-14777211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190203688	chr18:14777255-14777256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140849030	chr18:14777297-14777298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62086411	chr18:14777298-14777299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547021046	chr18:14777300-14777301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143576188	chr18:14777332-14777333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533394120	chr18:14777348-14777349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536226576	chr18:14777354-14777355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549475766	chr18:14777406-14777407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151004515	chr18:14777448-14777449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14769400-14778400	Weak transcription	Osteobl	bone
2	chr18:14776200-14776800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14776200-14777400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr18:14776800-14777200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14777200-14777600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:14778400-14779400	Enhancers	Osteobl	bone
7	chr18:14779400-14796600	Weak transcription	Osteobl	bone
8	chr18:14781600-14781800	Enhancers	Colonic Mucosa	Colon
9	chr18:14782000-14782400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr18:14796600-14798200	ZNF genes & repeats	Osteobl	bone
11	chr18:14797000-14797400	Enhancers	Placenta	Placenta
12	chr18:14797400-14798600	Weak transcription	Placenta	Placenta
13	chr18:14798200-14817600	Weak transcription	Osteobl	bone
14	chr18:14798600-14799000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:14798600-14799000	Enhancers	Placenta	Placenta
16	chr18:14799000-14817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:14817600-14817800	Enhancers	Osteobl	bone
18	chr18:14817800-14818000	Weak transcription	Osteobl	bone
19	chr18:14825200-14825400	Enhancers	Spleen	Spleen
20	chr18:14826400-14828600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:14827000-14827800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:14827000-14828200	Enhancers	Osteobl	bone
23	chr18:14828200-14838800	Weak transcription	Osteobl	bone
24	chr18:14838800-14839600	Enhancers	Osteobl	bone
25	chr18:14839000-14841800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:14839400-14841800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:14839600-14840400	Weak transcription	Osteobl	bone
28	chr18:14840200-14841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:14840400-14841800	Enhancers	Osteobl	bone
30	chr18:14841800-14842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:14841800-14852000	Weak transcription	Osteobl	bone

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