Variant report

Variant	nsv967692
Chromosome Location	chr4:159068843-159076875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:159065591..159067245-chr4:159070446..159072937,2	MCF-7	breast:
2	chr4:159071408..159073828-chr4:159088522..159091495,2	MCF-7	breast:
3	chr4:159075926..159078246-chr4:159082036..159083759,2	K562	blood:
4	chr4:159076732..159078631-chr4:159080658..159082639,2	MCF-7	breast:
5	chr4:159075615..159078408-chr4:159081390..159084163,2	MCF-7	breast:
6	chr4:158933316..158935337-chr4:159068376..159070456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164125	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539448402	chr4:159068854-159068855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150798327	chr4:159068896-159068897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569828549	chr4:159068945-159068946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191963627	chr4:159068955-159068956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555954346	chr4:159068995-159068996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137992097	chr4:159069053-159069054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541749623	chr4:159069068-159069069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113245773	chr4:159069112-159069113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187696333	chr4:159069118-159069119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35532337	chr4:159069172-159069173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369223071	chr4:159069187-159069188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200124851	chr4:159069204-159069205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545831607	chr4:159069205-159069206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142579756	chr4:159069239-159069240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531464094	chr4:159069251-159069252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541645351	chr4:159069256-159069257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192660512	chr4:159069289-159069290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146087832	chr4:159069319-159069320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6813306	chr4:159069322-159069323	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140093555	chr4:159069352-159069353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575830106	chr4:159069353-159069354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62337038	chr4:159069368-159069369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549186713	chr4:159069394-159069395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549784153	chr4:159069402-159069403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569791630	chr4:159069457-159069458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535977790	chr4:159069465-159069466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549300648	chr4:159069477-159069478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566217691	chr4:159069497-159069498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534916547	chr4:159069614-159069615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12502811	chr4:159069631-159069632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111997239	chr4:159069638-159069639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578255817	chr4:159069672-159069673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10026876	chr4:159069679-159069680	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143589047	chr4:159069683-159069684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576198887	chr4:159069699-159069700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73857593	chr4:159069821-159069822	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561634922	chr4:159069844-159069845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6819576	chr4:159069889-159069890	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540886635	chr4:159069938-159069939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564012726	chr4:159069941-159069942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184458979	chr4:159069967-159069968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144701031	chr4:159070026-159070027	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142951466	chr4:159070068-159070069	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529365478	chr4:159070072-159070073	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367758440	chr4:159070087-159070088	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540565585	chr4:159070094-159070095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4391084	chr4:159070102-159070103	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532167195	chr4:159070106-159070107	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188981305	chr4:159070117-159070118	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562213423	chr4:159070118-159070119	Weak transcription Strong transcription Genic enhancers 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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159042800-159083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:159044800-159071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:159044800-159073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:159047000-159080200	Weak transcription	Right Ventricle	heart
5	chr4:159049200-159070000	Weak transcription	Placenta	Placenta
6	chr4:159051800-159070600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:159051800-159073000	Weak transcription	Fetal Stomach	stomach
8	chr4:159051800-159080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:159052000-159071400	Weak transcription	Adipose Nuclei	Adipose
10	chr4:159052200-159071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:159052200-159072800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:159052600-159071200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:159052600-159071400	Weak transcription	HSMMtube	muscle
14	chr4:159052600-159080200	Weak transcription	Left Ventricle	heart
15	chr4:159055600-159076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:159059000-159077800	Weak transcription	Aorta	Aorta
17	chr4:159059400-159071800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:159059400-159076600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:159060600-159070800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:159060600-159071200	Weak transcription	Ovary	ovary
21	chr4:159060600-159071400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:159060600-159076600	Weak transcription	HMEC	breast
23	chr4:159062000-159077600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:159062600-159077800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:159062600-159083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:159063200-159071600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:159063400-159078800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:159064000-159071800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:159066200-159076600	Weak transcription	Small Intestine	intestine
30	chr4:159066200-159076800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:159066400-159069800	Weak transcription	Fetal Heart	heart
32	chr4:159066400-159080400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:159066600-159071400	Weak transcription	HepG2	liver
34	chr4:159066600-159072000	Weak transcription	HUVEC	blood vessel
35	chr4:159067400-159077200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:159067600-159069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:159067600-159073400	Strong transcription	HSMM	muscle
38	chr4:159068400-159078200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:159068600-159069800	Weak transcription	Brain Anterior Caudate	brain
40	chr4:159068600-159070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:159068600-159080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:159068600-159080400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:159068600-159082000	Weak transcription	Brain Substantia Nigra	brain
44	chr4:159068800-159076200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:159068800-159079400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:159068800-159081000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:159069400-159077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:159069800-159070000	Enhancers	Brain Anterior Caudate	brain
49	chr4:159069800-159071000	Enhancers	Fetal Heart	heart
50	chr4:159070000-159070400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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