Variant report

Variant	esv2759994
Chromosome Location	chr14:65254465-65271780
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
2	chr14:65268763..65270591-chr14:65452749..65454968,2	MCF-7	breast:
3	chr14:65258140..65260514-chr14:65261209..65262960,2	K562	blood:
4	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
5	chr14:65263037..65265900-chr14:65453092..65455357,2	MCF-7	breast:
6	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
7	chr14:65263442..65265552-chr14:65270691..65273167,2	K562	blood:
8	chr14:65258140..65260514-chr14:65261209..65262960,2	K562	blood:
9	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
10	chr14:65268349..65269036-chr14:65289885..65290600,4	MCF-7	breast:
11	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
12	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:
13	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
14	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
15	chr14:65268004..65268870-chr14:65450202..65451035,3	K562	blood:
16	chr14:65263268..65264769-chr14:65377543..65379077,2	K562	blood:
17	chr14:65248996..65250592-chr14:65267178..65268809,2	MCF-7	breast:
18	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
19	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
20	chr14:65263442..65265552-chr14:65270691..65273167,2	K562	blood:
21	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
22	chr14:65137892..65138874-chr14:65266647..65267635,2	MCF-7	breast:
23	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
24	chr14:65270920..65271571-chr14:65289735..65290545,2	K562	blood:
25	chr14:65250375..65252086-chr14:65255128..65257379,2	K562	blood:
26	chr14:65254966..65256507-chr14:65486443..65488468,2	K562	blood:
27	chr14:65269057..65270107-chr14:65289880..65290862,3	MCF-7	breast:
28	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
29	chr14:65138116..65138837-chr14:65266518..65267321,3	MCF-7	breast:
30	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:
31	chr14:65228573..65229471-chr14:65266358..65267017,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	chromatin interactions
ENSG00000257365	chromatin interactions

Extended variants
information (count: 845 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:845 , 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	rs2269303	chr14:65254465-65254466	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183962641	chr14:65254476-65254477	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563676656	chr14:65254494-65254495	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370404341	chr14:65254503-65254504	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532645896	chr14:65254508-65254509	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188568656	chr14:65254523-65254524	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191723158	chr14:65254525-65254526	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139886933	chr14:65254526-65254527	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376821064	chr14:65254551-65254552	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534726550	chr14:65254600-65254601	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs229630	chr14:65254643-65254644	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371255475	chr14:65254710-65254711	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183234779	chr14:65254718-65254719	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143277127	chr14:65254765-65254766	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556973235	chr14:65254802-65254803	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577254970	chr14:65254807-65254808	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188160776	chr14:65254819-65254820	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17245565	chr14:65254850-65254851	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572902948	chr14:65254869-65254870	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541539109	chr14:65254879-65254880	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561013743	chr14:65254880-65254881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567375835	chr14:65254899-65254900	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372061670	chr14:65254956-65254957	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1875053	chr14:65255018-65255019	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs571298700	chr14:65255063-65255064	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1875054	chr14:65255066-65255067	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373855101	chr14:65255076-65255077	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552555929	chr14:65255135-65255136	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553630636	chr14:65255177-65255178	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367686887	chr14:65255179-65255180	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559901979	chr14:65255220-65255221	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8012640	chr14:65255236-65255237	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs56009634	chr14:65255307-65255308	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs229629	chr14:65255308-65255309	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568188774	chr14:65255309-65255310	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537140487	chr14:65255420-65255421	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550634106	chr14:65255477-65255478	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570418635	chr14:65255510-65255511	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146657038	chr14:65255513-65255514	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140243650	chr14:65255531-65255532	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191817862	chr14:65255584-65255585	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183669115	chr14:65255611-65255612	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556059964	chr14:65255630-65255631	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555124604	chr14:65255638-65255639	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150267046	chr14:65255641-65255642	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543501689	chr14:65255658-65255659	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78748209	chr14:65255676-65255677	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577117650	chr14:65255685-65255686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375413597	chr14:65255686-65255687	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145880845	chr14:65255724-65255725	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
8	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
12	chr14:65251400-65254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:65251400-65257200	Weak transcription	Right Ventricle	heart
14	chr14:65251400-65257400	Weak transcription	Brain Germinal Matrix	brain
15	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain
16	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
17	chr14:65251800-65258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
19	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:65252800-65256600	Weak transcription	Left Ventricle	heart
21	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
22	chr14:65253000-65255600	Enhancers	HUVEC	blood vessel
23	chr14:65253400-65255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65253600-65254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:65253600-65254800	Weak transcription	HMEC	breast
26	chr14:65253600-65256600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:65253800-65254800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:65253800-65255200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:65253800-65255200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:65253800-65255200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr14:65253800-65257800	Weak transcription	Fetal Stomach	stomach
32	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
33	chr14:65254200-65254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:65254200-65255800	Strong transcription	K562	blood
35	chr14:65254400-65254600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:65254400-65255600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:65254600-65255200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:65254600-65257400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:65254800-65255000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:65254800-65255600	Enhancers	NHDF-Ad	bronchial
41	chr14:65254800-65256400	Enhancers	A549	lung
42	chr14:65254800-65256800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:65254800-65257800	Enhancers	HMEC	breast
44	chr14:65254800-65259800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:65255000-65255200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:65255000-65255600	Enhancers	NH-A	brain
47	chr14:65255000-65256000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:65255000-65256000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:65255000-65256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:65255000-65256800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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