Variant report

Variant	esv3345493
Chromosome Location	chr14:104696099-104700997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104689890..104692418-chr14:104695085..104697901,2	K562	blood:
2	chr14:104698677..104700498-chr14:104705265..104708074,2	MCF-7	breast:
3	chr14:104694371..104697146-chr14:104809063..104811864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258913	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs550946269	chr14:104696108-104696109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567703508	chr14:104696120-104696121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78788865	chr14:104696121-104696122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537625105	chr14:104696191-104696192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377738922	chr14:104696248-104696249	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552927592	chr14:104696249-104696250	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115264504	chr14:104696280-104696281	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192818762	chr14:104696296-104696297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558383998	chr14:104696360-104696361	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75287271	chr14:104696371-104696372	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117590845	chr14:104696380-104696381	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77829952	chr14:104696383-104696384	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551654820	chr14:104696386-104696387	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540305878	chr14:104696388-104696389	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185692015	chr14:104696393-104696394	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528665400	chr14:104696414-104696415	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111523239	chr14:104696452-104696453	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565620367	chr14:104696453-104696454	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190367140	chr14:104696468-104696469	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550728279	chr14:104696472-104696473	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112308978	chr14:104696489-104696490	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138319807	chr14:104696490-104696491	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547043849	chr14:104696503-104696504	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566333727	chr14:104696670-104696671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544820666	chr14:104696686-104696687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538406212	chr14:104696690-104696691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558321900	chr14:104696711-104696712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74087251	chr14:104696755-104696756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73362248	chr14:104696772-104696773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149199273	chr14:104696776-104696777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574339376	chr14:104696818-104696819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143339920	chr14:104696819-104696820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553854334	chr14:104696831-104696832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113523375	chr14:104696881-104696882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367809473	chr14:104696913-104696914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545666805	chr14:104696934-104696935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7142792	chr14:104696953-104696954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531268315	chr14:104697003-104697004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192794688	chr14:104697036-104697037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79446706	chr14:104697049-104697050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374987588	chr14:104697055-104697056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559535677	chr14:104697065-104697066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145442989	chr14:104697074-104697075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs36125573	chr14:104697075-104697076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566664993	chr14:104697143-104697144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532466241	chr14:104697172-104697173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183723834	chr14:104697185-104697186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551939897	chr14:104697202-104697203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571783794	chr14:104697236-104697237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188787523	chr14:104697263-104697264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104691000-104698200	Weak transcription	Fetal Brain Male	brain
2	chr14:104691600-104697400	Weak transcription	Ovary	ovary
3	chr14:104691600-104698000	Weak transcription	Fetal Lung	lung
4	chr14:104692200-104697000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:104692800-104698000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:104693000-104696800	Enhancers	Stomach Mucosa	stomach
7	chr14:104694000-104696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:104694600-104696800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:104694800-104697600	Enhancers	Fetal Muscle Leg	muscle
10	chr14:104695200-104696600	Enhancers	Colonic Mucosa	Colon
11	chr14:104695200-104696800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr14:104695200-104696800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr14:104695400-104696600	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:104695800-104696200	Enhancers	Fetal Stomach	stomach
15	chr14:104695800-104696600	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:104696000-104697000	Enhancers	Fetal Muscle Trunk	muscle
17	chr14:104696000-104697600	Enhancers	Fetal Heart	heart
18	chr14:104696000-104698200	Weak transcription	Gastric	stomach
19	chr14:104696000-104698800	Weak transcription	Spleen	Spleen
20	chr14:104696200-104696400	Enhancers	Pancreas	Pancrea
21	chr14:104696200-104696600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:104696200-104696800	Enhancers	Colon Smooth Muscle	Colon
23	chr14:104696400-104697800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:104696400-104698200	Weak transcription	Pancreas	Pancrea
25	chr14:104696800-104697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:104696800-104698000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:104697000-104700200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:104697400-104697600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:104697400-104697600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr14:104697400-104697600	Strong transcription	Ovary	ovary
31	chr14:104697600-104697800	Weak transcription	Ovary	ovary
32	chr14:104697600-104698200	Weak transcription	Fetal Heart	heart
33	chr14:104697600-104699000	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:104697800-104698600	Strong transcription	Ovary	ovary
35	chr14:104697800-104699200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr14:104698000-104698400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr14:104698000-104698800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:104698000-104699000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr14:104698000-104699000	ZNF genes & repeats	Fetal Lung	lung
40	chr14:104698200-104698400	ZNF genes & repeats	Fetal Heart	heart
41	chr14:104698200-104698600	ZNF genes & repeats	Gastric	stomach
42	chr14:104698200-104699000	ZNF genes & repeats	Fetal Brain Male	brain
43	chr14:104698200-104699400	ZNF genes & repeats	Pancreas	Pancrea
44	chr14:104698600-104699000	Weak transcription	Ovary	ovary
45	chr14:104698800-104704000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:104699200-104700200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:104700400-104703200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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