Variant report

Variant	nsv830028
Chromosome Location	chr4:106769299-106801806
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106637277..106639218-chr4:106771875..106773400,2	MCF-7	breast:
2	chr4:106779895..106782052-chr4:106793000..106795244,2	MCF-7	breast:
3	chr4:106780531..106782678-chr4:106796997..106799530,3	K562	blood:
4	chr4:106780950..106782455-chr4:106798571..106801151,2	MCF-7	breast:
5	chr4:106800923..106802785-chr4:106816136..106818564,2	MCF-7	breast:
6	chr4:106791438..106793110-chr4:106795222..106798127,2	K562	blood:
7	chr4:106798138..106799969-chr4:106818933..106821674,2	MCF-7	breast:
8	chr4:106791438..106793110-chr4:106795222..106798127,2	K562	blood:
9	chr4:106757830..106760223-chr4:106765801..106769766,3	MCF-7	breast:
10	chr4:106779895..106782052-chr4:106793000..106795244,2	MCF-7	breast:
11	chr4:106780950..106782455-chr4:106798571..106801151,2	MCF-7	breast:
12	chr4:106780531..106782678-chr4:106796997..106799530,3	K562	blood:
13	chr4:106780017..106783245-chr4:106815996..106818105,5	MCF-7	breast:
14	chr4:106771946..106774406-chr4:106815601..106817256,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1004 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555965246	chr4:106769337-106769338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566399597	chr4:106769396-106769397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535275314	chr4:106769417-106769418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs137933722	chr4:106769483-106769484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78218407	chr4:106769504-106769505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184689673	chr4:106769505-106769506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189087605	chr4:106769508-106769509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542558321	chr4:106769510-106769511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557013471	chr4:106769560-106769561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564555764	chr4:106769563-106769564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181566925	chr4:106769641-106769642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541637386	chr4:106769658-106769659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561516345	chr4:106769684-106769685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527602235	chr4:106769689-106769690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541310358	chr4:106769723-106769724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186643316	chr4:106769724-106769725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72960918	chr4:106769748-106769749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549939126	chr4:106769759-106769760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548025590	chr4:106769770-106769771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528970346	chr4:106769798-106769799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549603170	chr4:106769860-106769861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566221682	chr4:106769895-106769896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374524791	chr4:106769901-106769902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535045294	chr4:106769948-106769949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552045186	chr4:106769949-106769950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571579524	chr4:106769976-106769977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537032347	chr4:106769983-106769984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556901155	chr4:106769988-106769989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573818084	chr4:106769989-106769990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536307682	chr4:106770018-106770019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555184267	chr4:106770074-106770075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559844171	chr4:106770114-106770115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191494394	chr4:106770115-106770116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533564318	chr4:106770130-106770131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181231494	chr4:106770151-106770152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115756723	chr4:106770154-106770155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563229939	chr4:106770210-106770211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72960919	chr4:106770245-106770246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78242592	chr4:106770322-106770323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375919704	chr4:106770323-106770324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186199946	chr4:106770330-106770331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189836466	chr4:106770335-106770336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536150744	chr4:106770370-106770371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183545063	chr4:106770395-106770396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143157609	chr4:106770537-106770538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368443506	chr4:106770626-106770627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187936050	chr4:106770689-106770690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75913504	chr4:106770718-106770719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34015549	chr4:106770734-106770735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75820553	chr4:106770744-106770745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106746000-106772200	Weak transcription	Left Ventricle	heart
2	chr4:106746400-106776400	Weak transcription	Gastric	stomach
3	chr4:106747000-106771800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:106747400-106772000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:106753800-106772000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:106754600-106772400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:106755600-106779800	Weak transcription	Esophagus	oesophagus
8	chr4:106756800-106770200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:106757200-106779200	Weak transcription	GM12878-XiMat	blood
10	chr4:106758000-106771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:106758000-106772400	Weak transcription	Thymus	Thymus
12	chr4:106758000-106773000	Weak transcription	Fetal Stomach	stomach
13	chr4:106758000-106779000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:106758600-106770000	Weak transcription	Liver	Liver
15	chr4:106758600-106772800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:106758600-106781200	Weak transcription	Pancreas	Pancrea
17	chr4:106759600-106770200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:106759600-106772400	Weak transcription	HepG2	liver
19	chr4:106762800-106770000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:106763000-106769800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:106763000-106771600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:106763600-106779800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:106764800-106772200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:106765000-106770600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:106765000-106771800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:106765000-106772800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:106765400-106779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:106765400-106780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:106765600-106779200	Weak transcription	NHEK	skin
30	chr4:106767000-106770000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:106767000-106774000	Weak transcription	HSMM	muscle
32	chr4:106767000-106778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:106767000-106779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:106768200-106773200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:106770000-106770200	Enhancers	Fetal Muscle Leg	muscle
36	chr4:106770200-106770400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:106770200-106770400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:106770200-106773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:106771600-106772400	Enhancers	Fetal Intestine Small	intestine
40	chr4:106772000-106772200	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:106772000-106772200	Enhancers	Fetal Intestine Large	intestine
42	chr4:106772000-106772600	Enhancers	Stomach Mucosa	stomach
43	chr4:106772200-106772600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:106772400-106772800	Enhancers	HepG2	liver
45	chr4:106778800-106779800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:106779000-106779600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:106779200-106779600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:106779200-106779600	ZNF genes & repeats	NHEK	skin
49	chr4:106779200-106780000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr4:106779600-106783600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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