Variant report

Variant	esv3416499
Chromosome Location	chr4:175700801-175744305
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175704753..175706331-chr4:176045956..176047741,2	MCF-7	breast:
2	chr4:175741383..175744501-chr4:175747246..175749375,3	MCF-7	breast:
3	chr4:175732826..175734634-chr4:175741566..175744026,2	K562	blood:
4	chr4:175270741..175272762-chr4:175708411..175710972,2	K562	blood:
5	chr4:175730873..175733814-chr4:175736376..175738792,2	MCF-7	breast:
6	chr4:175732826..175734634-chr4:175741566..175744026,2	K562	blood:
7	chr4:175715901..175718406-chr4:175720738..175723252,2	K562	blood:
8	chr4:175722667..175724604-chr4:175731422..175734130,2	MCF-7	breast:
9	chr4:175730873..175733814-chr4:175736376..175738792,2	MCF-7	breast:
10	chr4:175715901..175718406-chr4:175720738..175723252,2	K562	blood:
11	chr4:175722667..175724604-chr4:175731422..175734130,2	MCF-7	breast:

No data

Extended variants
information (count: 77 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10000921	chr4:175715439-175715440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201737705	chr4:175715462-175715463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574514646	chr4:175715469-175715470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537363657	chr4:175715483-175715484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548165921	chr4:175715540-175715541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556931408	chr4:175715574-175715575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576427800	chr4:175715592-175715593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544990054	chr4:175715612-175715613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67481417	chr4:175715622-175715623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572185321	chr4:175715631-175715632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548402199	chr4:175715632-175715633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143972548	chr4:175715636-175715637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189322860	chr4:175715669-175715670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148634501	chr4:175715724-175715725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533961269	chr4:175715749-175715750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553862246	chr4:175731206-175731207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567007893	chr4:175731249-175731250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28664890	chr4:175731369-175731370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72708276	chr4:175731450-175731451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540853729	chr4:175731476-175731477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114497219	chr4:175731491-175731492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535721816	chr4:175731494-175731495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548586145	chr4:175731550-175731551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568475251	chr4:175731555-175731556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560682285	chr4:175731564-175731565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575786567	chr4:175731565-175731566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6816364	chr4:175731572-175731573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376658505	chr4:175731737-175731738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557555771	chr4:175731742-175731743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577799938	chr4:175731766-175731767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533722692	chr4:175731768-175731769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553981127	chr4:175731868-175731869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184791749	chr4:175731869-175731870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573999889	chr4:175731882-175731883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539585273	chr4:175731883-175731884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558543272	chr4:175731933-175731934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542902475	chr4:175731950-175731951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76897840	chr4:175731968-175731969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575708170	chr4:175731971-175731972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188163671	chr4:175732025-175732026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564409093	chr4:175732056-175732057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533605571	chr4:175732079-175732080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546902423	chr4:175732087-175732088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79834472	chr4:175732112-175732113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529554699	chr4:175732131-175732132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78127666	chr4:175732198-175732199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34393605	chr4:175732238-175732239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367625302	chr4:175732249-175732250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557862758	chr4:175732265-175732266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143695330	chr4:175732266-175732267	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175715400-175715800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:175715400-175715800	Enhancers	A549	lung
3	chr4:175715400-175715800	Enhancers	Hela-S3	cervix
4	chr4:175731200-175731400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:175731200-175732200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:175731400-175732000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:175731800-175732600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:175732000-175732400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:175732000-175732800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:175732000-175732800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:175732000-175732800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:175732200-175732800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:175732200-175732800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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