Variant report

Variant	nsv879677
Chromosome Location	chr4:102357934-102520785
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:102432296..102434415-chr4:102447007..102448829,2	MCF-7	breast:
2	chr4:102266409..102268590-chr4:102516202..102517720,2	MCF-7	breast:
3	chr4:102267789..102270313-chr4:102518098..102520924,2	MCF-7	breast:
4	chr4:102090081..102090815-chr4:102518241..102518832,2	MCF-7	breast:
5	chr4:102439215..102441659-chr4:102442690..102444241,2	MCF-7	breast:
6	chr4:102473957..102475564-chr4:102477066..102478830,2	MCF-7	breast:
7	chr4:102473957..102475564-chr4:102477066..102478830,2	MCF-7	breast:
8	chr4:101657397..101659960-chr4:102360000..102362694,2	K562	blood:
9	chr4:102340377..102343341-chr4:102516987..102519019,2	MCF-7	breast:
10	chr4:102465283..102467753-chr4:102468417..102470025,2	MCF-7	breast:
11	chr4:102432296..102434415-chr4:102447007..102448829,2	MCF-7	breast:
12	chr4:102439215..102441659-chr4:102442690..102444241,2	MCF-7	breast:
13	chr4:102519275..102521968-chr4:102570862..102572539,2	K562	blood:
14	chr4:102271777..102274738-chr4:102516515..102519508,3	MCF-7	breast:
15	chr4:102465283..102467753-chr4:102468417..102470025,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153064	chromatin interactions
ENSG00000138814	chromatin interactions
ENSG00000254531	chromatin interactions

Extended variants
information (count: 2931 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2931 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559880236	chr4:102360221-102360222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149284268	chr4:102360264-102360265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183515248	chr4:102360272-102360273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73833769	chr4:102360321-102360322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144498520	chr4:102360339-102360340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562849650	chr4:102360357-102360358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530466290	chr4:102360381-102360382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542499555	chr4:102360385-102360386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139054364	chr4:102360391-102360392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142372198	chr4:102360398-102360399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548460088	chr4:102360405-102360406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552001493	chr4:102360454-102360455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570558207	chr4:102360482-102360483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531282351	chr4:102360487-102360488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549411589	chr4:102360500-102360501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567707023	chr4:102360502-102360503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111629487	chr4:102360515-102360516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188557088	chr4:102360533-102360534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553987913	chr4:102360625-102360626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565761397	chr4:102360632-102360633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193129639	chr4:102360677-102360678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183185371	chr4:102360693-102360694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577442274	chr4:102360700-102360701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186800231	chr4:102360724-102360725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560892536	chr4:102360739-102360740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572464068	chr4:102360762-102360763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556636390	chr4:102360776-102360777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35669203	chr4:102360799-102360800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375910811	chr4:102360800-102360801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs70964161	chr4:102360819-102360820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529276293	chr4:102360834-102360835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574836777	chr4:102360892-102360893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542562178	chr4:102360899-102360900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560803946	chr4:102360928-102360929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572632825	chr4:102360930-102360931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111818788	chr4:102360956-102360957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564519641	chr4:102360984-102360985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571038540	chr4:102360990-102360991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549426355	chr4:102361037-102361038	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561351416	chr4:102361078-102361079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191269821	chr4:102361082-102361083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569259475	chr4:102361109-102361110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs13143896	chr4:102361202-102361203	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs139773002	chr4:102361259-102361260	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539331806	chr4:102361267-102361268	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551600390	chr4:102361271-102361272	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551941627	chr4:102361281-102361282	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561098119	chr4:102361320-102361321	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528501441	chr4:102361321-102361322	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567050322	chr4:102361369-102361370	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
myeloid cancer	21057493	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102360200-102361000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:102360800-102361000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:102360800-102361200	Enhancers	Adipose Nuclei	Adipose
4	chr4:102360800-102361200	Enhancers	Psoas Muscle	Psoas
5	chr4:102360800-102361200	Enhancers	NHDF-Ad	bronchial
6	chr4:102360800-102361400	Enhancers	Colon Smooth Muscle	Colon
7	chr4:102360800-102361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:102360800-102361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:102360800-102361600	Enhancers	Osteobl	bone
10	chr4:102361000-102361200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:102361000-102361600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:102361000-102361800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:102361200-102361400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:102361200-102362600	Weak transcription	Psoas Muscle	Psoas
15	chr4:102361400-102361600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:102361600-102362000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:102361600-102362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:102362600-102363000	Enhancers	Psoas Muscle	Psoas
19	chr4:102368200-102368600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:102368600-102372200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:102372200-102372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:102372200-102372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:102372200-102373000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:102379200-102380000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:102379800-102380400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:102379800-102380800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:102380000-102381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:102392200-102393000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:102393000-102393400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:102393400-102393800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:102395800-102397000	Enhancers	Osteobl	bone
32	chr4:102396000-102396800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:102396000-102397000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:102396000-102397000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:102396200-102396600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:102397800-102422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:102406800-102407200	Enhancers	Fetal Thymus	thymus
38	chr4:102421800-102422200	Enhancers	NHEK	skin
39	chr4:102422000-102422400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:102422000-102423000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:102422000-102423200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:102435600-102437600	Enhancers	Fetal Heart	heart
43	chr4:102447600-102449000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:102447600-102449000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:102447600-102449200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr4:102447800-102449200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:102447800-102449200	Enhancers	Primary T cells from cord blood	blood
48	chr4:102447800-102449200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:102448000-102448200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:102448000-102448600	Enhancers	Primary T cells fromperipheralblood	blood

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