Variant report

Variant	nsv437409
Chromosome Location	chr4:107052107-107064347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106817910..106819582-chr4:107062720..107065633,2	MCF-7	breast:
2	chr4:106629937..106631659-chr4:107051139..107052653,2	MCF-7	breast:
3	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:

Variant related genes	Relation type
ENSG00000138780	chromatin interactions
ENSG00000138785	chromatin interactions
ENSG00000168743	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6836198	chr4:107052107-107052108	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192607096	chr4:107052144-107052145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554335348	chr4:107052154-107052155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528362843	chr4:107052156-107052157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551274799	chr4:107052238-107052239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571065805	chr4:107052249-107052250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142436429	chr4:107052272-107052273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556608047	chr4:107052278-107052279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567235895	chr4:107052279-107052280	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536374369	chr4:107052293-107052294	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552692207	chr4:107052320-107052321	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572804567	chr4:107052345-107052346	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185011442	chr4:107052386-107052387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559312635	chr4:107052387-107052388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116513184	chr4:107052399-107052400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35574717	chr4:107052412-107052413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535352265	chr4:107052425-107052426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561492082	chr4:107052447-107052448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113802087	chr4:107052477-107052478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530131586	chr4:107052495-107052496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151327021	chr4:107052496-107052497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553117390	chr4:107052515-107052516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs66500360	chr4:107052518-107052519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189398484	chr4:107052540-107052541	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532544159	chr4:107052541-107052542	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs192309743	chr4:107052545-107052546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571226223	chr4:107052551-107052552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530749429	chr4:107052582-107052583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542169990	chr4:107052598-107052599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184555001	chr4:107052678-107052679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564001755	chr4:107052713-107052714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535957498	chr4:107052724-107052725	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112659456	chr4:107052725-107052726	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553034979	chr4:107052726-107052727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531154795	chr4:107052754-107052755	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538653111	chr4:107052757-107052758	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190086694	chr4:107052767-107052768	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181341785	chr4:107052819-107052820	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186413466	chr4:107052839-107052840	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555189614	chr4:107052855-107052856	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189286306	chr4:107052933-107052934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149677619	chr4:107053025-107053026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560661280	chr4:107053035-107053036	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577131208	chr4:107053091-107053092	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180783267	chr4:107053101-107053102	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186429773	chr4:107053159-107053160	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562572482	chr4:107053164-107053165	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530711819	chr4:107053221-107053222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190881825	chr4:107053228-107053229	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13106285	chr4:107053233-107053234	ZNF genes & repeats Weak transcription Strong 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
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
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107031600-107052600	Weak transcription	Fetal Thymus	thymus
2	chr4:107031800-107053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:107032000-107052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:107032000-107058200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:107033400-107053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:107033600-107052800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:107033600-107053400	Weak transcription	Osteobl	bone
8	chr4:107033800-107053400	Weak transcription	HSMM	muscle
9	chr4:107034200-107053400	Weak transcription	Right Ventricle	heart
10	chr4:107035200-107057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:107035600-107083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:107035800-107052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:107035800-107053000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:107035800-107053000	Weak transcription	Fetal Lung	lung
15	chr4:107035800-107053200	Weak transcription	Fetal Stomach	stomach
16	chr4:107035800-107053200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:107035800-107053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:107035800-107053400	Weak transcription	Lung	lung
19	chr4:107035800-107053400	Weak transcription	Pancreas	Pancrea
20	chr4:107035800-107053600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:107035800-107053600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:107036000-107053200	Weak transcription	Brain Anterior Caudate	brain
23	chr4:107036200-107052800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:107037200-107053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:107037400-107053400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:107037400-107053400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:107037600-107053400	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:107037600-107056200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:107037600-107060600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:107037600-107061600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:107037600-107066400	Weak transcription	Fetal Kidney	kidney
32	chr4:107037800-107053000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:107037800-107053000	Weak transcription	Liver	Liver
34	chr4:107037800-107053400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:107037800-107053400	Weak transcription	Adipose Nuclei	Adipose
36	chr4:107037800-107053400	Weak transcription	HepG2	liver
37	chr4:107037800-107077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:107038000-107052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:107038000-107052800	Weak transcription	Brain Substantia Nigra	brain
40	chr4:107038000-107053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:107038000-107053000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:107038000-107053200	Weak transcription	Primary B cells from cord blood	blood
43	chr4:107038000-107053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:107038000-107053400	Weak transcription	Aorta	Aorta
45	chr4:107038000-107053400	Weak transcription	Left Ventricle	heart
46	chr4:107038000-107053400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:107038000-107055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:107038000-107056800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:107038000-107112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:107038200-107053400	Weak transcription	Primary T cells fromperipheralblood	blood

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