Variant report

Variant	esv2761577
Chromosome Location	chr14:34792079-34839752
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:82)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:34800908..34801526-chr14:34966566..34967258,2	MCF-7	breast:
2	chr14:34822809..34824821-chr14:34835490..34838130,2	K562	blood:
3	chr14:34799049..34803588-chr14:34929796..34932817,6	MCF-7	breast:
4	chr14:34800896..34801407-chr14:34828851..34829746,2	K562	blood:
5	chr14:34831090..34836007-chr14:34929679..34932517,6	MCF-7	breast:
6	chr14:34791536..34796639-chr14:35020421..35025152,7	MCF-7	breast:
7	chr14:34829098..34830867-chr14:34930254..34932621,2	MCF-7	breast:
8	chr1:217756095..217757066-chr14:34793320..34794023,2	MCF-7	breast:
9	chr14:34836773..34839966-chr14:34841911..34844333,3	MCF-7	breast:
10	chr14:34824950..34826946-chr14:34829355..34831283,2	MCF-7	breast:
11	chr14:34796387..34803256-chr14:34929329..34933926,13	MCF-7	breast:
12	chr14:34800539..34802093-chr14:34803618..34805977,2	K562	blood:
13	chr14:34792278..34794857-chr14:34811344..34812872,2	MCF-7	breast:
14	chr14:34800941..34803201-chr14:34806783..34809053,3	MCF-7	breast:
15	chr14:34318412..34319090-chr14:34793606..34794148,2	MCF-7	breast:
16	chr14:33945041..33945678-chr14:34793627..34794184,2	MCF-7	breast:
17	chr14:34792278..34794857-chr14:34811344..34812872,2	MCF-7	breast:
18	chr14:34817224..34820374-chr14:35020993..35024037,3	K562	blood:
19	chr14:34792427..34794155-chr14:35007082..35008607,2	MCF-7	breast:
20	chr14:34799658..34804397-chr14:34825720..34832179,6	MCF-7	breast:
21	chr14:34801000..34803505-chr14:35018421..35020509,2	K562	blood:
22	chr14:34794253..34796297-chr14:34798522..34800555,2	K562	blood:
23	chr14:34815903..34818513-chr14:35017360..35019871,2	K562	blood:
24	chr14:34823585..34826193-chr14:34929383..34932329,3	MCF-7	breast:
25	chr14:34799600..34803505-chr14:35015683..35020657,6	K562	blood:
26	chr14:34824940..34827795-chr14:34843775..34845840,2	K562	blood:
27	chr14:34834264..34835188-chr14:34967046..34968623,5	MCF-7	breast:
28	chr14:34793250..34796297-chr14:34798067..34800555,3	K562	blood:
29	chr14:34799303..34801132-chr14:34842337..34843937,2	MCF-7	breast:
30	chr14:34800581..34801486-chr14:34967721..34968650,2	K562	blood:
31	chr14:34836485..34839521-chr14:34847849..34850157,3	MCF-7	breast:
32	chr14:34794253..34796297-chr14:34798522..34800555,2	K562	blood:
33	chr14:34822809..34824821-chr14:34835490..34838130,2	K562	blood:
34	chr14:34800459..34801447-chr14:34834475..34835043,2	MCF-7	breast:
35	chr14:34827197..34829438-chr14:34832825..34835803,3	MCF-7	breast:
36	chr14:33057590..33058492-chr14:34793659..34794562,2	K562	blood:
37	chr14:34833069..34836111-chr14:35024176..35025897,3	K562	blood:
38	chr14:34823851..34826767-chr14:34832124..34834268,2	MCF-7	breast:
39	chr14:34802933..34804617-chr14:34805863..34807929,2	MCF-7	breast:
40	chr14:34800459..34801447-chr14:34834475..34835043,2	MCF-7	breast:
41	chr14:34797417..34799654-chr14:35017218..35018796,2	K562	blood:
42	chr14:34827657..34830476-chr14:34890573..34892159,2	MCF-7	breast:
43	chr14:34807683..34809486-chr14:34968759..34971565,2	K562	blood:
44	chr14:34805162..34808153-chr14:35022968..35024996,2	K562	blood:
45	chr14:34800539..34802093-chr14:34803618..34805977,2	K562	blood:
46	chr14:34799658..34804397-chr14:34825720..34832179,6	MCF-7	breast:
47	chr14:34800941..34803201-chr14:34806783..34809053,3	MCF-7	breast:
48	chr14:34799146..34802383-chr14:35022565..35025550,6	K562	blood:
49	chr14:34800393..34801534-chr14:34967736..34968695,6	MCF-7	breast:
50	chr14:34827197..34829438-chr14:34832825..34835803,3	MCF-7	breast:

No data

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

Extended variants
information (count: 1819 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1819 , 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	rs577603233	chr14:34792418-34792419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35393186	chr14:34792423-34792424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184441447	chr14:34792425-34792426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112259102	chr14:34792426-34792427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188801622	chr14:34792443-34792444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181126787	chr14:34792473-34792474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541088686	chr14:34792480-34792481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150604909	chr14:34792512-34792513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139694318	chr14:34792612-34792613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113257103	chr14:34792617-34792618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186054025	chr14:34792670-34792671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563275659	chr14:34792730-34792731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112507920	chr14:34792739-34792740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552175620	chr14:34792746-34792747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565701044	chr14:34792754-34792755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534816916	chr14:34792764-34792765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548617399	chr14:34792771-34792772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568459540	chr14:34792780-34792781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189281523	chr14:34792831-34792832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375956035	chr14:34792879-34792880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557574818	chr14:34792915-34792916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145550889	chr14:34792923-34792924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147729762	chr14:34792932-34792933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535690684	chr14:34792965-34792966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139515616	chr14:34793035-34793036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147439966	chr14:34793076-34793077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553519629	chr14:34793085-34793086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147552750	chr14:34793086-34793087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79549469	chr14:34793096-34793097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11156837	chr14:34793102-34793103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540664899	chr14:34793118-34793119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561076477	chr14:34793143-34793144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182168970	chr14:34793175-34793176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543238668	chr14:34793183-34793184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563113878	chr14:34793189-34793190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113937292	chr14:34793190-34793191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10146683	chr14:34793191-34793192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557420751	chr14:34793199-34793200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552012725	chr14:34793298-34793299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559324260	chr14:34793332-34793333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528534673	chr14:34793333-34793334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548281138	chr14:34793342-34793343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377163271	chr14:34793359-34793360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568576375	chr14:34793394-34793395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112924693	chr14:34793410-34793411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551220220	chr14:34793415-34793416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191959424	chr14:34793480-34793481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182985212	chr14:34793486-34793487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553658354	chr14:34793496-34793497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145133704	chr14:34793507-34793508	Enhancers Weak transcription	n/a	n/a	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:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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

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