Variant report

Variant	nsv85157
Chromosome Location	chr14:68499620-68503211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68500366..68502626-chr14:68506216..68509390,3	MCF-7	breast:
2	chr14:68497334..68499807-chr14:68504444..68506718,2	K562	blood:
3	chr14:68492413..68494672-chr14:68501248..68502997,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75225862	chr14:68499732-68499733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536899795	chr14:68499758-68499759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554983950	chr14:68499792-68499793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114875718	chr14:68499816-68499817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540500449	chr14:68499864-68499865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559397665	chr14:68499901-68499902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574506080	chr14:68499929-68499930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541944187	chr14:68499942-68499943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182183939	chr14:68499958-68499959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369245988	chr14:68500098-68500099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34199443	chr14:68500135-68500136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2208596	chr14:68500164-68500165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs66765554	chr14:68500270-68500271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5809369	chr14:68500272-68500273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3070547	chr14:68500273-68500274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377264604	chr14:68500333-68500334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562900680	chr14:68500337-68500338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145947977	chr14:68500387-68500388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11621638	chr14:68500427-68500428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117003469	chr14:68500428-68500429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118050103	chr14:68500436-68500437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78171336	chr14:68500461-68500462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201359421	chr14:68500514-68500515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571701740	chr14:68500569-68500570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539095067	chr14:68500616-68500617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551097183	chr14:68500618-68500619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570953499	chr14:68500652-68500653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569246218	chr14:68500684-68500685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185518383	chr14:68500701-68500702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536659725	chr14:68500730-68500731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555223806	chr14:68500744-68500745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10132022	chr14:68500751-68500752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138869244	chr14:68500791-68500792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113721023	chr14:68500812-68500813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558843601	chr14:68500814-68500815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547474623	chr14:68500841-68500842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577029239	chr14:68500842-68500843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565793181	chr14:68500882-68500883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72725168	chr14:68500954-68500955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573859741	chr14:68500981-68500982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548523242	chr14:68500982-68500983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142877624	chr14:68501093-68501094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574880557	chr14:68501155-68501156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542284291	chr14:68501197-68501198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374378806	chr14:68501205-68501206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551652147	chr14:68501208-68501209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561231260	chr14:68501212-68501213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114182025	chr14:68501266-68501267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546879439	chr14:68501296-68501297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112055852	chr14:68501339-68501340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68494800-68506200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68495600-68500200	Weak transcription	Pancreas	Pancrea
3	chr14:68497400-68506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:68498600-68500000	Enhancers	Ovary	ovary
5	chr14:68498800-68499800	Enhancers	Fetal Intestine Small	intestine
6	chr14:68498800-68500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:68498800-68503600	Enhancers	Fetal Lung	lung
8	chr14:68499200-68499800	Enhancers	Colon Smooth Muscle	Colon
9	chr14:68499400-68502200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:68499400-68508400	Weak transcription	Fetal Kidney	kidney
11	chr14:68499600-68499800	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:68499600-68499800	Enhancers	Adipose Nuclei	Adipose
13	chr14:68499600-68503200	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:68499800-68501600	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:68499800-68501600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:68499800-68512600	Weak transcription	Adipose Nuclei	Adipose
17	chr14:68499800-68516200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:68500000-68500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:68500000-68500200	Weak transcription	Ovary	ovary
20	chr14:68500200-68500600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:68500200-68500600	Enhancers	Pancreas	Pancrea
22	chr14:68500200-68501200	Enhancers	Ovary	ovary
23	chr14:68500400-68500600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr14:68500400-68501200	Enhancers	Right Atrium	heart
25	chr14:68500600-68507400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:68501000-68501200	Enhancers	Fetal Muscle Leg	muscle
27	chr14:68501200-68507400	Weak transcription	Ovary	ovary
28	chr14:68501200-68508200	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:68501600-68502600	Enhancers	Colon Smooth Muscle	Colon
30	chr14:68501600-68503400	Enhancers	Fetal Intestine Small	intestine
31	chr14:68502000-68502800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:68502200-68503000	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:68502200-68503200	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:68502200-68503200	Enhancers	Fetal Intestine Large	intestine
35	chr14:68502400-68503000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:68502400-68503400	Enhancers	Stomach Mucosa	stomach
37	chr14:68502400-68503600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:68502400-68505600	Enhancers	Fetal Stomach	stomach
39	chr14:68502600-68503000	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr14:68502800-68503400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr14:68503000-68503200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:68503000-68503400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:68503000-68503400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:68503000-68503400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:68503000-68504400	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:68503000-68507600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:68503000-68508200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:68503200-68504200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:68503200-68506400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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