Variant report

Variant	nsv596194
Chromosome Location	chr4:172388728-172481191
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:1)
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	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
2	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
3	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
4	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
5	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
6	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
7	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
8	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-5	chr4:172474151-172474376	XLOC_004159

No data

Extended variants
information (count: 1041 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1041 , 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	rs571097045	chr4:172394033-172394034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35569943	chr4:172394050-172394051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558156380	chr4:172394059-172394060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571733282	chr4:172394113-172394114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534288297	chr4:172394114-172394115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111432596	chr4:172394130-172394131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143943461	chr4:172394182-172394183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6831239	chr4:172394198-172394199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147278491	chr4:172394241-172394242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187920762	chr4:172394306-172394307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139107898	chr4:172394308-172394309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546057165	chr4:172394409-172394410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559652055	chr4:172394467-172394468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528503708	chr4:172394500-172394501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548554931	chr4:172394535-172394536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376215592	chr4:172394554-172394555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562209754	chr4:172394572-172394573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141433765	chr4:172394620-172394621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550926339	chr4:172394638-172394639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530384733	chr4:172394648-172394649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192421482	chr4:172394721-172394722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571714890	chr4:172394873-172394874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547018280	chr4:172394918-172394919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534380960	chr4:172394941-172394942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546907039	chr4:172394964-172394965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560037151	chr4:172404812-172404813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528973867	chr4:172404842-172404843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144994890	chr4:172404845-172404846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562324039	chr4:172404852-172404853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531377402	chr4:172404918-172404919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551279214	chr4:172404922-172404923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200859785	chr4:172404957-172404958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373241306	chr4:172404970-172404971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571159612	chr4:172404971-172404972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112284594	chr4:172404986-172404987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572213932	chr4:172404998-172404999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116707131	chr4:172405009-172405010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190552198	chr4:172405053-172405054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4144862	chr4:172405095-172405096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541791018	chr4:172405113-172405114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553558922	chr4:172405154-172405155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73868781	chr4:172405211-172405212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570278399	chr4:172405249-172405250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148372795	chr4:172405268-172405269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539196772	chr4:172405319-172405320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199522578	chr4:172405320-172405321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565301041	chr4:172405360-172405361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147754797	chr4:172405362-172405363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553716783	chr4:172405373-172405374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142618287	chr4:172405375-172405376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172394000-172395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:172405800-172406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:172418000-172418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:172436000-172442000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:172439400-172440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172439600-172440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:172440200-172440600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:172441600-172442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:172441800-172442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:172442000-172442200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:172442200-172444800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:172442200-172446000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:172444800-172445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:172445200-172446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:172446000-172446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:172446200-172446400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:172446200-172446400	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:172446200-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:172446400-172447400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:172446600-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:172447000-172447600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:172447400-172447600	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:172454000-172454600	Active TSS	Aorta	Aorta
26	chr4:172454000-172454600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:172458000-172458200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:172458200-172458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:172458800-172460600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:172459800-172460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:172460000-172460600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:172472200-172472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:172472400-172473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:172472400-172473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:172472400-172473000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:172472600-172473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:172472600-172476800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:172473000-172476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:172475200-172475400	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:172475400-172483600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:172476000-172476600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:172476800-172478200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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