Variant report

Variant	nsv596197
Chromosome Location	chr4:172797761-172868945
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
2	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:
3	chr4:172790840..172792742-chr4:172835981..172838118,2	K562	blood:
4	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
5	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:
6	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:
7	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:

No data

Extended variants
information (count: 1283 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11723736	chr4:172797761-172797762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10031590	chr4:172797779-172797780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78705417	chr4:172797811-172797812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545925896	chr4:172797828-172797829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530338879	chr4:172797863-172797864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544026289	chr4:172797992-172797993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78887917	chr4:172798016-172798017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531416735	chr4:172798039-172798040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184301450	chr4:172798126-172798127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371119724	chr4:172798183-172798184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114483139	chr4:172798213-172798214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527246170	chr4:172798234-172798235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547086150	chr4:172798276-172798277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567505446	chr4:172798338-172798339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75487760	chr4:172798368-172798369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555930238	chr4:172798394-172798395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187988442	chr4:172798395-172798396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538727432	chr4:172798412-172798413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146836972	chr4:172798572-172798573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112891939	chr4:172798579-172798580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193074765	chr4:172798629-172798630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576599661	chr4:172798642-172798643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184782588	chr4:172798683-172798684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555598506	chr4:172798782-172798783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200226807	chr4:172798783-172798784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189560253	chr4:172798784-172798785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575066046	chr4:172798819-172798820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544159576	chr4:172798841-172798842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141493246	chr4:172798846-172798847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532723286	chr4:172798862-172798863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181447624	chr4:172798870-172798871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184568444	chr4:172798871-172798872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542036710	chr4:172798889-172798890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527397731	chr4:172798891-172798892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547367319	chr4:172798935-172798936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560763771	chr4:172798994-172798995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113184003	chr4:172798996-172798997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150430002	chr4:172799077-172799078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181596566	chr4:172799122-172799123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138187172	chr4:172799163-172799164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185864075	chr4:172799173-172799174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562440261	chr4:172799196-172799197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191158188	chr4:172799207-172799208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180921916	chr4:172799208-172799209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554929817	chr4:172799220-172799221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142779850	chr4:172799236-172799237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537462062	chr4:172799288-172799289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77971226	chr4:172799308-172799309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577619712	chr4:172799316-172799317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547434152	chr4:172799370-172799371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172797000-172803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:172797600-172798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:172798000-172798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:172798200-172798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:172798400-172798600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:172798400-172800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:172798400-172802200	Enhancers	HUVEC	blood vessel
8	chr4:172798600-172801600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:172800000-172801000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:172800000-172802800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:172800800-172802200	Enhancers	NH-A	brain
12	chr4:172801000-172801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:172801200-172801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:172801200-172801800	Enhancers	HMEC	breast
15	chr4:172801400-172801600	Enhancers	Hela-S3	cervix
16	chr4:172801400-172802000	Enhancers	A549	lung
17	chr4:172801600-172802800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:172801800-172802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:172803600-172803800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:172803800-172804000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:172804000-172804200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:172816400-172816800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:172816400-172817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:172817000-172818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:172817600-172818000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:172824000-172824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:172824000-172824200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:172824200-172824600	Active TSS	Placenta	Placenta
29	chr4:172824200-172824800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:172824200-172824800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:172830600-172831000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:172838600-172839400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:172838800-172839600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:172839000-172839200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:172839000-172839400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:172839200-172844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:172839400-172845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:172840400-172840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:172844400-172846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:172844600-172844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:172845000-172846000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:172845600-172846400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:172845600-172846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:172845800-172846400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:172845800-172846400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:172845800-172846600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr4:172845800-172848000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:172845800-172848400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:172846000-172846200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:172846000-172846400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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