Variant report

Variant	nsv456169
Chromosome Location	chr14:25270335-25288227
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:25275145..25275846-chr14:25601792..25602797,3	K562	blood:
2	chr14:25286732..25287686-chr14:25511790..25512486,5	MCF-7	breast:
3	chr14:25275252..25276232-chr14:25706794..25707562,4	MCF-7	breast:
4	chr14:25275205..25275993-chr14:25619860..25620768,3	MCF-7	breast:
5	chr14:25286771..25287566-chr14:25619855..25620690,2	MCF-7	breast:
6	chr14:25275628..25276165-chr14:25620088..25620783,2	MCF-7	breast:
7	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:
8	chr14:25275483..25276064-chr4:145324301..145324821,2	MCF-7	breast:
9	chr14:25275348..25276037-chr14:25510991..25511724,2	MCF-7	breast:
10	chr14:25275176..25276196-chr14:25601801..25602663,4	MCF-7	breast:
11	chr14:25274769..25276064-chr14:25511769..25512775,13	MCF-7	breast:
12	chr14:25275376..25275994-chr4:145324301..145324822,2	MCF-7	breast:
13	chr14:25275544..25276429-chr14:25600109..25600712,2	MCF-7	breast:
14	chr14:25275324..25276030-chr14:25620025..25620602,2	K562	blood:
15	chr14:25286776..25287734-chr14:25601846..25602711,3	MCF-7	breast:
16	chr14:25278755..25280361-chr14:25308783..25311776,2	MCF-7	breast:
17	chr14:25279193..25282609-chr14:25287302..25290092,3	MCF-7	breast:
18	chr14:25179637..25180289-chr14:25275151..25276052,2	MCF-7	breast:
19	chr14:25286870..25287678-chr14:25619872..25620704,2	MCF-7	breast:
20	chr14:25286735..25287246-chr14:25511793..25512726,2	MCF-7	breast:
21	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168952	chromatin interactions

Extended variants
information (count: 702 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854380	chr14:25270335-25270336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570442461	chr14:25270354-25270355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539467707	chr14:25270464-25270465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556176331	chr14:25270468-25270469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs854381	chr14:25270483-25270484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538588965	chr14:25270514-25270515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535252020	chr14:25270528-25270529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181787103	chr14:25270529-25270530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372172355	chr14:25270536-25270537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574560175	chr14:25270555-25270556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540316340	chr14:25270590-25270591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560239432	chr14:25270597-25270598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371508442	chr14:25270605-25270606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138552334	chr14:25270646-25270647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546216137	chr14:25270647-25270648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562997614	chr14:25270677-25270678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532035212	chr14:25270722-25270723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376489560	chr14:25270734-25270735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564434944	chr14:25270747-25270748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368884482	chr14:25270778-25270779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141380119	chr14:25270811-25270812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527920759	chr14:25270894-25270895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs854382	chr14:25270903-25270904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186812101	chr14:25270907-25270908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539024492	chr14:25270926-25270927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75863955	chr14:25270971-25270972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569825648	chr14:25271006-25271007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190253557	chr14:25271076-25271077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555278172	chr14:25271157-25271158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10483287	chr14:25271175-25271176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182666268	chr14:25271201-25271202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145168323	chr14:25271265-25271266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577274544	chr14:25271301-25271302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs854383	chr14:25271349-25271350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72681093	chr14:25271350-25271351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576625903	chr14:25271398-25271399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542524136	chr14:25271486-25271487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs854384	chr14:25271520-25271521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
39	rs527879881	chr14:25271542-25271543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548020372	chr14:25271590-25271591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564123668	chr14:25271614-25271615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533072286	chr14:25271632-25271633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549479845	chr14:25271638-25271639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148342569	chr14:25271642-25271643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565505600	chr14:25271656-25271657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76283422	chr14:25271682-25271683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370348315	chr14:25271691-25271692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186942531	chr14:25271708-25271709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534466789	chr14:25271729-25271730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116390480	chr14:25271813-25271814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25266600-25273800	Weak transcription	Stomach Mucosa	stomach
2	chr14:25268600-25273400	Weak transcription	Lung	lung
3	chr14:25268800-25273400	Weak transcription	Fetal Lung	lung
4	chr14:25269200-25272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:25269600-25270800	Enhancers	HepG2	liver
6	chr14:25269600-25273000	Weak transcription	Right Ventricle	heart
7	chr14:25270800-25271000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:25270800-25273400	Weak transcription	HepG2	liver
9	chr14:25271000-25273200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:25272200-25272400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:25272200-25275400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:25272400-25273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:25272400-25283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:25273000-25273400	Enhancers	Pancreas	Pancrea
15	chr14:25273000-25274000	Enhancers	Right Ventricle	heart
16	chr14:25273200-25276800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:25273400-25274600	Enhancers	Lung	lung
18	chr14:25273400-25275200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:25273400-25276200	Enhancers	Fetal Lung	lung
20	chr14:25273400-25276200	Enhancers	HepG2	liver
21	chr14:25273400-25277600	Enhancers	Fetal Intestine Small	intestine
22	chr14:25273400-25277600	Weak transcription	Pancreas	Pancrea
23	chr14:25273400-25278200	Enhancers	Fetal Intestine Large	intestine
24	chr14:25273800-25274000	Enhancers	Gastric	stomach
25	chr14:25273800-25276000	Enhancers	Stomach Mucosa	stomach
26	chr14:25274000-25274600	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:25274000-25275400	Weak transcription	Right Ventricle	heart
28	chr14:25274000-25283000	Weak transcription	Gastric	stomach
29	chr14:25274200-25274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:25274400-25274600	Enhancers	Left Ventricle	heart
31	chr14:25274400-25275600	Enhancers	Fetal Muscle Leg	muscle
32	chr14:25274600-25274800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:25274600-25275200	Weak transcription	Lung	lung
34	chr14:25274600-25275400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:25274600-25275400	Weak transcription	Left Ventricle	heart
36	chr14:25275000-25275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:25275000-25276600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr14:25275000-25279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:25275200-25275400	Enhancers	Lung	lung
40	chr14:25275200-25275600	Enhancers	Brain Hippocampus Middle	brain
41	chr14:25275200-25275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:25275200-25276000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr14:25275200-25276000	Enhancers	Brain Substantia Nigra	brain
44	chr14:25275200-25276000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr14:25275200-25276200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:25275200-25276600	Enhancers	Fetal Heart	heart
47	chr14:25275200-25276600	Enhancers	Right Atrium	heart
48	chr14:25275200-25285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:25275400-25275800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:25275400-25275800	Enhancers	Fetal Kidney	kidney

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