Variant report

Variant	esv3385095
Chromosome Location	chr14:104696699-104700097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000258913	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558321900	chr14:104696711-104696712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74087251	chr14:104696755-104696756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73362248	chr14:104696772-104696773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149199273	chr14:104696776-104696777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574339376	chr14:104696818-104696819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143339920	chr14:104696819-104696820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553854334	chr14:104696831-104696832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113523375	chr14:104696881-104696882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367809473	chr14:104696913-104696914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545666805	chr14:104696934-104696935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7142792	chr14:104696953-104696954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531268315	chr14:104697003-104697004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192794688	chr14:104697036-104697037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79446706	chr14:104697049-104697050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374987588	chr14:104697055-104697056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559535677	chr14:104697065-104697066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145442989	chr14:104697074-104697075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs36125573	chr14:104697075-104697076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566664993	chr14:104697143-104697144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532466241	chr14:104697172-104697173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183723834	chr14:104697185-104697186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551939897	chr14:104697202-104697203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571783794	chr14:104697236-104697237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188787523	chr14:104697263-104697264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73362249	chr14:104697278-104697279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556928071	chr14:104697299-104697300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554818401	chr14:104697310-104697311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576284774	chr14:104697347-104697348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143059433	chr14:104697427-104697428	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533739728	chr14:104697438-104697439	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537513675	chr14:104697454-104697455	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577044426	chr14:104697473-104697474	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539526960	chr14:104697555-104697556	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73362251	chr14:104697604-104697605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575767106	chr14:104697607-104697608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544582533	chr14:104697614-104697615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181349848	chr14:104697628-104697629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575022596	chr14:104697656-104697657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540668805	chr14:104697658-104697659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560092505	chr14:104697671-104697672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532503664	chr14:104697712-104697713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552216723	chr14:104697765-104697766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73362252	chr14:104697777-104697778	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185572927	chr14:104697847-104697848	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573877564	chr14:104697886-104697887	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373647236	chr14:104697903-104697904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190280910	chr14:104697916-104697917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533826325	chr14:104697944-104697945	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72717026	chr14:104697958-104697959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567816942	chr14:104698000-104698001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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:39 , 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	chr14:104694600-104696800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:104694800-104697600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:104695200-104696800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:104695200-104696800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr14:104696000-104697000	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:104696000-104697600	Enhancers	Fetal Heart	heart
13	chr14:104696000-104698200	Weak transcription	Gastric	stomach
14	chr14:104696000-104698800	Weak transcription	Spleen	Spleen
15	chr14:104696200-104696800	Enhancers	Colon Smooth Muscle	Colon
16	chr14:104696400-104697800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:104696400-104698200	Weak transcription	Pancreas	Pancrea
18	chr14:104696800-104697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:104696800-104698000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:104697000-104700200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:104697400-104697600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:104697400-104697600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr14:104697400-104697600	Strong transcription	Ovary	ovary
24	chr14:104697600-104697800	Weak transcription	Ovary	ovary
25	chr14:104697600-104698200	Weak transcription	Fetal Heart	heart
26	chr14:104697600-104699000	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:104697800-104698600	Strong transcription	Ovary	ovary
28	chr14:104697800-104699200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
29	chr14:104698000-104698400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr14:104698000-104698800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:104698000-104699000	ZNF genes & repeats	Fetal Kidney	kidney
32	chr14:104698000-104699000	ZNF genes & repeats	Fetal Lung	lung
33	chr14:104698200-104698400	ZNF genes & repeats	Fetal Heart	heart
34	chr14:104698200-104698600	ZNF genes & repeats	Gastric	stomach
35	chr14:104698200-104699000	ZNF genes & repeats	Fetal Brain Male	brain
36	chr14:104698200-104699400	ZNF genes & repeats	Pancreas	Pancrea
37	chr14:104698600-104699000	Weak transcription	Ovary	ovary
38	chr14:104698800-104704000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:104699200-104700200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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