Variant report

Variant	nsv4450
Chromosome Location	chr4:107037823-107082669
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:
2	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:
3	chr4:106817148..106819269-chr4:107039233..107040831,3	MCF-7	breast:
4	chr4:107037209..107040065-chr4:107046985..107049286,2	K562	blood:
5	chr4:107037209..107040065-chr4:107046985..107049286,2	K562	blood:
6	chr4:106817910..106819582-chr4:107062720..107065633,2	MCF-7	breast:
7	chr4:106629937..106631659-chr4:107051139..107052653,2	MCF-7	breast:
8	chr4:107023929..107026888-chr4:107039825..107042203,2	K562	blood:

No data

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

Extended variants
information (count: 1491 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536747771	chr4:107037868-107037869	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62321369	chr4:107037876-107037877	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553546996	chr4:107037948-107037949	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566834460	chr4:107037982-107037983	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373094116	chr4:107037987-107037988	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539039591	chr4:107038044-107038045	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558058026	chr4:107038049-107038050	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538308865	chr4:107038054-107038055	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577881930	chr4:107038061-107038062	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56341229	chr4:107038096-107038097	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557094545	chr4:107038101-107038102	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140517213	chr4:107038131-107038132	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551454984	chr4:107038135-107038136	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192842105	chr4:107038136-107038137	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184986921	chr4:107038138-107038139	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542385650	chr4:107038186-107038187	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188518920	chr4:107038187-107038188	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181025812	chr4:107038210-107038211	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73836993	chr4:107038225-107038226	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139650508	chr4:107038263-107038264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551038596	chr4:107038270-107038271	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549345931	chr4:107038284-107038285	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567521433	chr4:107038314-107038315	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185098075	chr4:107038461-107038462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187998601	chr4:107038464-107038465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80282538	chr4:107038487-107038488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556537177	chr4:107038502-107038503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181923561	chr4:107038505-107038506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558894365	chr4:107038516-107038517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569183377	chr4:107038663-107038664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374351784	chr4:107038745-107038746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs118155690	chr4:107038755-107038756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577854634	chr4:107038786-107038787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538081222	chr4:107038825-107038826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538842092	chr4:107038854-107038855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557014774	chr4:107038894-107038895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56267034	chr4:107038895-107038896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542414433	chr4:107038945-107038946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7698386	chr4:107038946-107038947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs572588757	chr4:107038948-107038949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544733193	chr4:107038961-107038962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371552051	chr4:107038962-107038963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564894932	chr4:107038965-107038966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530464935	chr4:107038990-107038991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544852175	chr4:107039011-107039012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147869575	chr4:107039014-107039015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187678837	chr4:107039018-107039019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187084148	chr4:107039022-107039023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7674466	chr4:107039023-107039024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs191993606	chr4:107039027-107039028	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
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:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107012600-107038400	Weak transcription	NHDF-Ad	bronchial
2	chr4:107029800-107038000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:107031600-107052600	Weak transcription	Fetal Thymus	thymus
4	chr4:107031800-107039400	Weak transcription	Brain Angular Gyrus	brain
5	chr4:107031800-107053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:107032000-107052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:107032000-107058200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:107032200-107038400	Weak transcription	Fetal Brain Male	brain
9	chr4:107032600-107039600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:107033400-107039800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:107033400-107053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:107033600-107038000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:107033600-107052800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:107033600-107053400	Weak transcription	Osteobl	bone
15	chr4:107033800-107038200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:107033800-107038400	Strong transcription	Primary T cells from cord blood	blood
17	chr4:107033800-107039000	Weak transcription	HSMMtube	muscle
18	chr4:107033800-107053400	Weak transcription	HSMM	muscle
19	chr4:107034000-107038000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr4:107034000-107038400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:107034200-107038600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:107034200-107040200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:107034200-107053400	Weak transcription	Right Ventricle	heart
24	chr4:107034400-107038000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:107034600-107038000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:107034800-107038000	Strong transcription	Primary B cells from cord blood	blood
27	chr4:107034800-107038000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:107034800-107038000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:107034800-107038400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:107034800-107041000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:107035000-107038000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:107035000-107039400	Weak transcription	Psoas Muscle	Psoas
33	chr4:107035200-107038000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:107035200-107038200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:107035200-107038400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:107035200-107057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:107035400-107038000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr4:107035400-107040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:107035600-107039200	Weak transcription	Fetal Brain Female	brain
40	chr4:107035600-107083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:107035800-107039000	Weak transcription	Brain Germinal Matrix	brain
42	chr4:107035800-107039200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:107035800-107039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:107035800-107040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:107035800-107041000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:107035800-107041600	Weak transcription	Colonic Mucosa	Colon
47	chr4:107035800-107043800	Weak transcription	Thymus	Thymus
48	chr4:107035800-107052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:107035800-107053000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:107035800-107053000	Weak transcription	Fetal Lung	lung

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