Variant report

Variant	esv3355621
Chromosome Location	chr14:104653899-104658197
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104652967..104655075-chr14:105050050..105051684,2	MCF-7	breast:
2	chr14:104654038..104657382-chr14:104659420..104664106,7	MCF-7	breast:
3	chr14:104651310..104653934-chr14:104676245..104678161,2	MCF-7	breast:
4	chr14:104602083..104606800-chr14:104649678..104656936,9	MCF-7	breast:
5	chr14:104655728..104658058-chr14:104665902..104667845,2	MCF-7	breast:
6	chr14:104648873..104651309-chr14:104652979..104655035,2	MCF-7	breast:
7	chr14:104654764..104655392-chr14:104812527..104813058,2	MCF-7	breast:
8	chr14:104648128..104650382-chr14:104654649..104656553,2	K562	blood:
9	chr14:104637580..104639264-chr14:104654137..104656969,2	MCF-7	breast:
10	chr14:104649230..104653061-chr14:104657794..104660199,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258748	chromatin interactions
ENSG00000066735	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550463047	chr14:104653926-104653927	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560830055	chr14:104653937-104653938	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529802484	chr14:104653938-104653939	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557840952	chr14:104653951-104653952	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546426230	chr14:104653954-104653955	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568883031	chr14:104653956-104653957	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188054824	chr14:104653958-104653959	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528714838	chr14:104653964-104653965	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192478136	chr14:104653965-104653966	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539464315	chr14:104653983-104653984	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571630389	chr14:104654018-104654019	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537313071	chr14:104654019-104654020	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556945831	chr14:104654034-104654035	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567501640	chr14:104654041-104654042	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536645969	chr14:104654065-104654066	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553230081	chr14:104654069-104654070	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12890592	chr14:104654129-104654130	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs367866146	chr14:104654185-104654186	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111795333	chr14:104654196-104654197	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538482578	chr14:104654197-104654198	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36037630	chr14:104654214-104654215	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557010820	chr14:104654225-104654226	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575622474	chr14:104654231-104654232	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544474885	chr14:104654234-104654235	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561166631	chr14:104654255-104654256	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574392487	chr14:104654265-104654266	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183898953	chr14:104654286-104654287	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560018778	chr14:104654290-104654291	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs532206260	chr14:104654323-104654324	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551573998	chr14:104654384-104654385	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565095108	chr14:104654395-104654396	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77554731	chr14:104654402-104654403	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550908386	chr14:104654432-104654433	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542531714	chr14:104654438-104654439	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34283281	chr14:104654464-104654465	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73360268	chr14:104654488-104654489	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139771227	chr14:104654533-104654534	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145282228	chr14:104654537-104654538	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs9324074	chr14:104654551-104654552	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12891461	chr14:104654564-104654565	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539097378	chr14:104654592-104654593	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377100215	chr14:104654636-104654637	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34620087	chr14:104654644-104654645	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188382680	chr14:104654670-104654671	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191300362	chr14:104654689-104654690	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371674218	chr14:104654697-104654698	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369271462	chr14:104654706-104654707	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574655627	chr14:104654724-104654725	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375819883	chr14:104654746-104654747	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531912819	chr14:104654794-104654795	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104643800-104662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104645400-104655000	Weak transcription	Gastric	stomach
3	chr14:104648200-104655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:104648400-104654400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:104651600-104654200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:104651600-104655000	Weak transcription	Fetal Intestine Small	intestine
7	chr14:104652200-104654400	Enhancers	Hela-S3	cervix
8	chr14:104652400-104655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:104652600-104660400	Weak transcription	Spleen	Spleen
10	chr14:104653000-104654000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:104653400-104654400	Weak transcription	Esophagus	oesophagus
12	chr14:104653400-104655400	Bivalent Enhancer	Placenta	Placenta
13	chr14:104653600-104654400	Enhancers	Fetal Brain Male	brain
14	chr14:104653600-104655000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:104653600-104656200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104653800-104654800	Bivalent Enhancer	NHEK	skin
17	chr14:104653800-104655000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:104653800-104655400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:104654000-104654200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:104654000-104655000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:104654000-104655200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr14:104654200-104655000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr14:104654400-104654600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr14:104654400-104654800	Weak transcription	Fetal Brain Male	brain
25	chr14:104654400-104655200	Enhancers	Brain Germinal Matrix	brain
26	chr14:104654400-104655400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr14:104654400-104655400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:104654600-104654800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr14:104654600-104654800	Enhancers	Esophagus	oesophagus
30	chr14:104654600-104654800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr14:104654600-104655600	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr14:104654800-104655000	Enhancers	Fetal Brain Male	brain
33	chr14:104655000-104655200	Enhancers	Fetal Intestine Small	intestine
34	chr14:104655000-104655400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:104655000-104655400	Enhancers	Gastric	stomach
36	chr14:104655000-104661400	Weak transcription	Fetal Brain Male	brain
37	chr14:104655400-104655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:104655600-104656200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:104655800-104656200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:104656000-104656200	Bivalent Enhancer	Fetal Kidney	kidney
41	chr14:104656200-104658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:104656200-104662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:104656200-104669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:104657200-104665400	Weak transcription	Fetal Brain Female	brain
45	chr14:104657400-104657800	Enhancers	Liver	Liver
46	chr14:104658000-104658200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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