Variant report

Variant	esv1826789
Chromosome Location	chr4:101074810-101101065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:101084718..101086912-chr4:101087632..101089284,2	K562	blood:
2	chr4:101084718..101086912-chr4:101087632..101089284,2	K562	blood:
3	chr4:101072313..101075181-chr4:101094898..101096788,2	MCF-7	breast:
4	chr4:101072313..101075181-chr4:101094898..101096788,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-4	chr4:101090659-101092643	l_2694_NR_002799

Extended variants
information (count: 712 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536443476	chr4:101078460-101078461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542912786	chr4:101078471-101078472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573046699	chr4:101078522-101078523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540167334	chr4:101078549-101078550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187335319	chr4:101078620-101078621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577976405	chr4:101078658-101078659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190086979	chr4:101078666-101078667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368843893	chr4:101078674-101078675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183091500	chr4:101078678-101078679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563425855	chr4:101078715-101078716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187421460	chr4:101078723-101078724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200722795	chr4:101078730-101078731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116432489	chr4:101078735-101078736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369082309	chr4:101078738-101078739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552416180	chr4:101078811-101078812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528740377	chr4:101078822-101078823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546990304	chr4:101078840-101078841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115797117	chr4:101078844-101078845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564825966	chr4:101078857-101078858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144298807	chr4:101078858-101078859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568971578	chr4:101078859-101078860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536358163	chr4:101078872-101078873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554765954	chr4:101078905-101078906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193066496	chr4:101078918-101078919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534065173	chr4:101078936-101078937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78611700	chr4:101078979-101078980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577101475	chr4:101078999-101079000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547094444	chr4:101079059-101079060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115662250	chr4:101079099-101079100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556980800	chr4:101079129-101079130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575285389	chr4:101079152-101079153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542719270	chr4:101079182-101079183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561495046	chr4:101079183-101079184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558895459	chr4:101079195-101079196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541191722	chr4:101083208-101083209	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559826139	chr4:101083240-101083241	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186552877	chr4:101083410-101083411	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533335063	chr4:101083484-101083485	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546453139	chr4:101083489-101083490	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551601026	chr4:101083492-101083493	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567951849	chr4:101083502-101083503	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2866188	chr4:101083560-101083561	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs2866189	chr4:101083571-101083572	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116830484	chr4:101083613-101083614	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191183176	chr4:101083778-101083779	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372848026	chr4:101083790-101083791	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534686381	chr4:101083871-101083872	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550174392	chr4:101083919-101083920	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571396794	chr4:101083932-101083933	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4380532	chr4:101083992-101083993	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:77)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101078400-101079200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:101083200-101083400	ZNF genes & repeats	Ovary	ovary
3	chr4:101083200-101087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:101083400-101084200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr4:101083400-101089600	Weak transcription	Ovary	ovary
6	chr4:101084000-101084200	Enhancers	Primary B cells from cord blood	blood
7	chr4:101084200-101087000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:101084400-101086600	Weak transcription	Primary B cells from cord blood	blood
9	chr4:101084800-101085800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:101085000-101085200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:101085400-101085600	Enhancers	Psoas Muscle	Psoas
12	chr4:101085400-101085600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:101085400-101085600	Enhancers	HSMMtube	muscle
14	chr4:101085400-101085600	Enhancers	NHLF	lung
15	chr4:101085400-101086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:101085600-101086600	Weak transcription	Psoas Muscle	Psoas
17	chr4:101085600-101086600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:101085600-101086600	Weak transcription	HSMMtube	muscle
19	chr4:101085600-101088600	Weak transcription	NHLF	lung
20	chr4:101085800-101086200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:101086200-101086600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:101086200-101086800	Enhancers	Dnd41	blood
23	chr4:101086400-101087600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:101086600-101086800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:101086600-101087000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:101086600-101087000	Enhancers	HSMMtube	muscle
27	chr4:101086600-101087200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:101086600-101087200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:101086600-101087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:101086600-101087200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:101086600-101087200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:101086600-101087200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:101086600-101087400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:101086600-101087400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:101086600-101087400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:101086600-101087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:101086600-101087600	Enhancers	Brain Germinal Matrix	brain
38	chr4:101086600-101087800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:101086600-101087800	Enhancers	Primary B cells from cord blood	blood
40	chr4:101086600-101087800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:101086600-101087800	Enhancers	Psoas Muscle	Psoas
42	chr4:101086600-101088000	Enhancers	Fetal Muscle Leg	muscle
43	chr4:101086600-101088000	Enhancers	Fetal Thymus	thymus
44	chr4:101086600-101089200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:101086600-101089600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:101086800-101087200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:101086800-101087200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:101086800-101087200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:101086800-101087200	Flanking Active TSS	Dnd41	blood
50	chr4:101086800-101087400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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