Variant report

Variant	esv2760861
Chromosome Location	chr4:86241278-86324115
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:86286749..86288574-chr4:86295386..86298068,2	K562	blood:
2	chr4:86164928..86165741-chr4:86291153..86292328,4	MCF-7	breast:
3	chr4:86310843..86313430-chr4:86339747..86342570,2	K562	blood:
4	chr4:86258169..86261616-chr4:86269942..86273254,3	MCF-7	breast:
5	chr4:86234301..86236109-chr4:86239273..86242093,2	K562	blood:
6	chr4:86258169..86261616-chr4:86269942..86273254,3	MCF-7	breast:
7	chr4:86286749..86288574-chr4:86295386..86298068,2	K562	blood:
8	chr4:86320129..86322866-chr4:86332900..86334770,2	K562	blood:
9	chr4:86317452..86319452-chr4:86408462..86411289,2	MCF-7	breast:
10	chr4:86068352..86069122-chr4:86291595..86292351,2	MCF-7	breast:

No data

Extended variants
information (count: 1355 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546314414	chr4:86242204-86242205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546936148	chr4:86242238-86242239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567846305	chr4:86242240-86242241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145400158	chr4:86242246-86242247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs425023	chr4:86242270-86242271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575781677	chr4:86242288-86242289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147725428	chr4:86242315-86242316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538844081	chr4:86242334-86242335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142502832	chr4:86242338-86242339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118067930	chr4:86242339-86242340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540596740	chr4:86242341-86242342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146738207	chr4:86242353-86242354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147964852	chr4:86242383-86242384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140603775	chr4:86242413-86242414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72955767	chr4:86242425-86242426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185971578	chr4:86242433-86242434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72955769	chr4:86242444-86242445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564381375	chr4:86242459-86242460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528093955	chr4:86242467-86242468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546214145	chr4:86242495-86242496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567714101	chr4:86242501-86242502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150308522	chr4:86242513-86242514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190430685	chr4:86242517-86242518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183166739	chr4:86242543-86242544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373654152	chr4:86242567-86242568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116813303	chr4:86242613-86242614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371020447	chr4:86242644-86242645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558183471	chr4:86242646-86242647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs429596	chr4:86242706-86242707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188243205	chr4:86242724-86242725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72654008	chr4:86242732-86242733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114946215	chr4:86242775-86242776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145115	chr4:86242776-86242777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375483248	chr4:86245288-86245289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113031276	chr4:86245296-86245297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566774999	chr4:86245313-86245314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556139404	chr4:86245322-86245323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140795530	chr4:86245345-86245346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369042783	chr4:86245350-86245351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75992588	chr4:86245354-86245355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532494799	chr4:86245373-86245374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144873847	chr4:86245393-86245394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375905	chr4:86245394-86245395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542732831	chr4:86245419-86245420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561473455	chr4:86245428-86245429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569062359	chr4:86245523-86245524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76250769	chr4:86245543-86245544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145809822	chr4:86245559-86245560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149007157	chr4:86245593-86245594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543182023	chr4:86254214-86254215	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86242200-86242600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:86242200-86242800	Enhancers	HMEC	breast
3	chr4:86245200-86245600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:86245200-86245600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:86254200-86254600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:86259000-86260000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:86259000-86260000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:86259200-86259800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:86259400-86259800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:86276000-86281000	Weak transcription	Psoas Muscle	Psoas
11	chr4:86279400-86281000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:86279800-86280600	Enhancers	HMEC	breast
13	chr4:86282000-86284000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:86283800-86284000	Enhancers	Pancreas	Pancrea
15	chr4:86284000-86284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:86284000-86291200	Weak transcription	Pancreas	Pancrea
17	chr4:86284600-86286000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:86286000-86287400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:86286600-86286800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:86286800-86288800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:86287000-86287200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:86287200-86288200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:86287400-86290800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:86288200-86291800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:86288400-86289200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:86288600-86289800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:86288600-86289800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:86288600-86290000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:86288600-86290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:86288600-86292000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:86288800-86289000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:86288800-86292000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:86289000-86290000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:86289000-86290200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:86289000-86291000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:86289200-86289400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:86289200-86289600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr4:86289200-86289800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:86289400-86289600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:86289400-86289600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:86289400-86290400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:86289400-86292000	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:86289600-86289800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:86289600-86290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:86289600-86291400	Enhancers	Primary B cells from cord blood	blood
46	chr4:86289600-86291800	Enhancers	Adipose Nuclei	Adipose
47	chr4:86289800-86291000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:86289800-86291200	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:86289800-86291800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:86290000-86290400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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