Variant report

Variant	esv2754221
Chromosome Location	chr14:34783048-34838295
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:84)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:34800896..34801407-chr14:34828851..34829746,2	K562	blood:
2	chr14:34802933..34804617-chr14:34805863..34807929,2	MCF-7	breast:
3	chr14:34819663..34822326-chr14:34830340..34833228,3	MCF-7	breast:
4	chr14:33057590..33058492-chr14:34793659..34794562,2	K562	blood:
5	chr14:34792427..34794155-chr14:35007082..35008607,2	MCF-7	breast:
6	chr14:34836399..34839473-chr14:34930536..34933225,4	MCF-7	breast:
7	chr14:34800596..34801300-chr14:34965892..34967188,3	MCF-7	breast:
8	chr14:34797417..34799654-chr14:35017218..35018796,2	K562	blood:
9	chr14:34831090..34836007-chr14:34929679..34932517,6	MCF-7	breast:
10	chr14:34800085..34801493-chr14:34967404..34968713,17	MCF-7	breast:
11	chr14:34836739..34838554-chr14:35017235..35019391,2	MCF-7	breast:
12	chr14:34308546..34309057-chr14:34793267..34794118,2	MCF-7	breast:
13	chr14:34836857..34839880-chr14:35023528..35025416,3	MCF-7	breast:
14	chr1:217756095..217757066-chr14:34793320..34794023,2	MCF-7	breast:
15	chr14:34824950..34826946-chr14:34829355..34831283,2	MCF-7	breast:
16	chr14:34815903..34818513-chr14:35017360..35019871,2	K562	blood:
17	chr14:34800512..34802884-chr14:34930105..34932182,2	K562	blood:
18	chr14:34799146..34802383-chr14:35022565..35025550,6	K562	blood:
19	chr14:34835401..34839083-chr14:34893653..34895439,3	MCF-7	breast:
20	chr14:34792278..34794857-chr14:34811344..34812872,2	MCF-7	breast:
21	chr14:34836485..34839521-chr14:34847849..34850157,3	MCF-7	breast:
22	chr14:34696016..34698534-chr14:34789238..34791042,2	MCF-7	breast:
23	chr14:34786835..34788629-chr14:34790156..34792267,2	MCF-7	breast:
24	chr14:34836773..34839966-chr14:34841911..34844333,3	MCF-7	breast:
25	chr14:34786835..34788629-chr14:34790156..34792267,2	MCF-7	breast:
26	chr14:34800393..34801534-chr14:34967736..34968695,6	MCF-7	breast:
27	chr14:34802933..34804617-chr14:34805863..34807929,2	MCF-7	breast:
28	chr14:34799049..34803588-chr14:34929796..34932817,6	MCF-7	breast:
29	chr14:34800539..34802093-chr14:34803618..34805977,2	K562	blood:
30	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
31	chr14:34800896..34801407-chr14:34828851..34829746,2	K562	blood:
32	chr14:34824950..34826946-chr14:34829355..34831283,2	MCF-7	breast:
33	chr14:34827197..34829438-chr14:34832825..34835803,3	MCF-7	breast:
34	chr14:34800941..34803201-chr14:34806783..34809053,3	MCF-7	breast:
35	chr14:34821157..34825129-chr14:34928813..34932479,5	MCF-7	breast:
36	chr14:34830829..34832701-chr14:34965153..34968151,2	MCF-7	breast:
37	chr14:34799658..34804397-chr14:34825720..34832179,6	MCF-7	breast:
38	chr14:34823851..34826767-chr14:34832124..34834268,2	MCF-7	breast:
39	chr14:34823851..34826767-chr14:34832124..34834268,2	MCF-7	breast:
40	chr14:34800908..34801526-chr14:34966566..34967258,2	MCF-7	breast:
41	chr14:34801000..34803505-chr14:35018421..35020509,2	K562	blood:
42	chr14:34800554..34803623-chr14:34808126..34810131,3	K562	blood:
43	chr14:34794253..34796297-chr14:34798522..34800555,2	K562	blood:
44	chr14:34800941..34803201-chr14:34806783..34809053,3	MCF-7	breast:
45	chr14:34819663..34822326-chr14:34830340..34833228,3	MCF-7	breast:
46	chr14:34789681..34790201-chr14:93483516..93484132,2	MCF-7	breast:
47	chr14:34823585..34826193-chr14:34929383..34932329,3	MCF-7	breast:
48	chr14:34817224..34820374-chr14:35020993..35024037,3	K562	blood:
49	chr14:34801106..34802609-chr14:34842166..34844322,2	MCF-7	breast:
50	chr14:33045071..33045934-chr14:34791938..34792645,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129521	chromatin interactions
ENSG00000165389	chromatin interactions
ENSG00000206588	chromatin interactions
ENSG00000206596	chromatin interactions

Extended variants
information (count: 1833 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7143582	chr14:34783048-34783049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529266579	chr14:34783171-34783172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549504578	chr14:34783172-34783173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563048063	chr14:34783198-34783199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139641250	chr14:34789239-34789240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575302313	chr14:34789249-34789250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144192243	chr14:34789266-34789267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558131304	chr14:34789303-34789304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113162249	chr14:34789360-34789361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77680310	chr14:34789418-34789419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372788912	chr14:34789425-34789426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146076328	chr14:34789450-34789451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373158603	chr14:34789451-34789452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185864817	chr14:34789490-34789491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375864845	chr14:34789492-34789493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148795400	chr14:34789534-34789535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190241157	chr14:34789557-34789558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561620477	chr14:34789563-34789564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112376089	chr14:34789575-34789576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370503159	chr14:34789597-34789598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571650996	chr14:34789614-34789615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374141836	chr14:34789670-34789671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535182941	chr14:34789680-34789681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370568811	chr14:34789709-34789710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556670095	chr14:34789727-34789728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527964890	chr14:34789991-34789992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376757299	chr14:34790155-34790156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553529405	chr14:34790185-34790186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117079902	chr14:34790216-34790217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566308536	chr14:34790237-34790238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535545116	chr14:34790238-34790239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548753318	chr14:34790248-34790249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7154369	chr14:34790249-34790250	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs71419983	chr14:34790250-34790251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs66824922	chr14:34790256-34790257	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35288053	chr14:34790257-34790258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185263628	chr14:34790268-34790269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114110615	chr14:34790304-34790305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534051180	chr14:34790329-34790330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554224143	chr14:34790332-34790333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4982164	chr14:34790349-34790350	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563740236	chr14:34790368-34790369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74046022	chr14:34790384-34790385	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575564996	chr14:34790415-34790416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192004847	chr14:34790422-34790423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576474859	chr14:34790423-34790424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76392966	chr14:34790441-34790442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183930745	chr14:34790527-34790528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527991725	chr14:34790533-34790534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528033193	chr14:34790567-34790568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34780800-34783200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr14:34792400-34792600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:34792400-34792600	Enhancers	HepG2	liver
4	chr14:34792600-34793200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:34792600-34793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:34792600-34793800	Weak transcription	HepG2	liver
7	chr14:34793200-34793600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:34793400-34795000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:34793400-34795200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr14:34793400-34795200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr14:34793600-34794000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:34793600-34795200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr14:34793800-34794000	Enhancers	Gastric	stomach
14	chr14:34793800-34794000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:34793800-34794200	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:34793800-34794800	Enhancers	Stomach Mucosa	stomach
17	chr14:34793800-34795200	Enhancers	HepG2	liver
18	chr14:34794000-34794800	Enhancers	Colonic Mucosa	Colon
19	chr14:34794000-34801200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:34794200-34795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:34794200-34797400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:34794600-34794800	Enhancers	Gastric	stomach
23	chr14:34794800-34795000	Enhancers	A549	lung
24	chr14:34795000-34800200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:34795200-34800200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:34795200-34800400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:34796000-34796800	Enhancers	Fetal Brain Female	brain
28	chr14:34796800-34797200	Weak transcription	Fetal Brain Female	brain
29	chr14:34797200-34798000	Enhancers	Colon Smooth Muscle	Colon
30	chr14:34797200-34798000	Enhancers	Fetal Brain Female	brain
31	chr14:34797400-34797800	Enhancers	Rectal Smooth Muscle	rectum
32	chr14:34797400-34798000	Enhancers	Fetal Lung	lung
33	chr14:34797400-34798600	Enhancers	Fetal Stomach	stomach
34	chr14:34797400-34799400	Enhancers	Stomach Smooth Muscle	stomach
35	chr14:34797600-34797800	Enhancers	Ovary	ovary
36	chr14:34797600-34798000	Enhancers	Fetal Brain Male	brain
37	chr14:34797800-34800000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:34798000-34800400	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:34798200-34799200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:34799200-34800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:34799400-34799800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:34799800-34800400	Enhancers	Stomach Smooth Muscle	stomach
43	chr14:34800000-34800600	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:34800200-34800400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:34800200-34800400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:34800200-34801000	Enhancers	GM12878-XiMat	blood
47	chr14:34800200-34801200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr14:34800200-34801600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:34800400-34800800	Enhancers	HepG2	liver
50	chr14:34800400-34801000	Enhancers	Rectal Mucosa Donor 29	rectum

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