Variant report

Variant	esv2761840
Chromosome Location	chr14:66985253-67041635
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
2	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
3	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
4	chr14:66974103..66976751-chr14:66998338..67000349,2	MCF-7	breast:
5	chr14:66973828..66976621-chr14:66983168..66986678,3	MCF-7	breast:
6	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
7	chr14:66974580..66976543-chr14:66983199..66985930,3	MCF-7	breast:
8	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
9	chr14:66974208..66976195-chr14:67036443..67039003,2	MCF-7	breast:
10	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
11	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
12	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:
13	chr14:67013560..67014177-chr16:87123245..87123883,2	MCF-7	breast:
14	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
15	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:
16	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
17	chr14:66974791..66976543-chr14:66986687..66988455,2	MCF-7	breast:
18	chr14:66974018..66977412-chr14:66988835..66991120,3	MCF-7	breast:
19	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 2162 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2162 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111419040	chr14:66985293-66985294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368037284	chr14:66985318-66985319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6573680	chr14:66985327-66985328	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs78815437	chr14:66985396-66985397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548872739	chr14:66985397-66985398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150353624	chr14:66985409-66985410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537678437	chr14:66985445-66985446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557523783	chr14:66985457-66985458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570905146	chr14:66985491-66985492	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539872179	chr14:66985553-66985554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187616995	chr14:66985554-66985555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573154307	chr14:66985579-66985580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116031086	chr14:66985581-66985582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370040089	chr14:66985633-66985634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192239828	chr14:66985640-66985641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185137897	chr14:66985644-66985645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575612323	chr14:66985699-66985700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138018801	chr14:66985732-66985733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577675131	chr14:66985766-66985767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143604138	chr14:66985785-66985786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189598425	chr14:66985806-66985807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528924941	chr14:66985898-66985899	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs17103572	chr14:66985972-66985973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562410665	chr14:66986035-66986036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527611469	chr14:66986055-66986056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531230774	chr14:66986100-66986101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138716914	chr14:66986125-66986126	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192816269	chr14:66986136-66986137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539562801	chr14:66986142-66986143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1379413	chr14:66986144-66986145	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs569746784	chr14:66986220-66986221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560574066	chr14:66986231-66986232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76810366	chr14:66986282-66986283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555331554	chr14:66986300-66986301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554702110	chr14:66986322-66986323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575192356	chr14:66986432-66986433	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538103985	chr14:66986437-66986438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75373040	chr14:66986440-66986441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577739909	chr14:66986562-66986563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540032694	chr14:66986563-66986564	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560230592	chr14:66986572-66986573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7156737	chr14:66986613-66986614	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs542694073	chr14:66986614-66986615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184535029	chr14:66986638-66986639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79363280	chr14:66986655-66986656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115662816	chr14:66986656-66986657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370500505	chr14:66986657-66986658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564544433	chr14:66986691-66986692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189418615	chr14:66986692-66986693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181989733	chr14:66986697-66986698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66976600-66989800	Weak transcription	Aorta	Aorta
2	chr14:66977600-66997200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:66979600-66985400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:66981800-66989600	Weak transcription	Liver	Liver
5	chr14:66985400-66985600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:66989600-66990800	Enhancers	Liver	Liver
7	chr14:66990800-66993200	Weak transcription	Liver	Liver
8	chr14:66993200-66993800	Enhancers	Liver	Liver
9	chr14:66995400-66995600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:66995400-66996600	Weak transcription	Fetal Stomach	stomach
11	chr14:66995600-67003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:66996400-66997400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr14:66996400-66998000	Enhancers	Left Ventricle	heart
14	chr14:66996600-66997200	Strong transcription	Fetal Stomach	stomach
15	chr14:66996600-66997600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:66996800-66997600	Enhancers	Gastric	stomach
17	chr14:66996800-66997600	Enhancers	GM12878-XiMat	blood
18	chr14:66997000-66997400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:66997000-66997600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:66997000-66997600	Enhancers	Esophagus	oesophagus
21	chr14:66997000-66997600	Enhancers	Right Ventricle	heart
22	chr14:66997000-66997800	Enhancers	NHEK	skin
23	chr14:66997200-66997600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:66997200-66997600	Enhancers	Lung	lung
25	chr14:66997200-66997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:66997200-66998800	Weak transcription	Fetal Stomach	stomach
27	chr14:66997400-66997600	Enhancers	Spleen	Spleen
28	chr14:66997600-66997800	ZNF genes & repeats	GM12878-XiMat	blood
29	chr14:66997600-66998800	Weak transcription	Gastric	stomach
30	chr14:66997800-66998400	Weak transcription	GM12878-XiMat	blood
31	chr14:66997800-67014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:66998000-67005800	Weak transcription	Left Ventricle	heart
33	chr14:66998000-67009600	Weak transcription	Psoas Muscle	Psoas
34	chr14:66998400-66998600	Enhancers	GM12878-XiMat	blood
35	chr14:66999000-66999200	Enhancers	Gastric	stomach
36	chr14:67002200-67002600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:67003600-67004000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:67004000-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:67004400-67004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:67004600-67004800	Enhancers	Right Atrium	heart
41	chr14:67004600-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:67004800-67006800	Weak transcription	Right Atrium	heart
43	chr14:67005000-67006200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:67005200-67005800	Weak transcription	Liver	Liver
45	chr14:67005200-67005800	Enhancers	Dnd41	blood
46	chr14:67005400-67006000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:67005400-67006200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr14:67005600-67006000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:67005600-67006000	Enhancers	GM12878-XiMat	blood
50	chr14:67005600-67006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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