Variant report

Variant	nsv879638
Chromosome Location	chr4:97568242-97631381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
2	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
3	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
4	chr3:64742113..64742693-chr4:97580731..97581568,2	MCF-7	breast:
5	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
6	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
7	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:

Extended variants
information (count: 1131 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376606987	chr4:97569600-97569601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67368316	chr4:97569606-97569607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60184375	chr4:97569607-97569608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201854177	chr4:97569608-97569609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28399263	chr4:97569612-97569613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376893850	chr4:97569615-97569616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28546823	chr4:97569619-97569620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28439210	chr4:97569623-97569624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138568380	chr4:97569628-97569629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139420746	chr4:97569639-97569640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60766533	chr4:97569651-97569652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535733502	chr4:97569660-97569661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142972515	chr4:97569712-97569713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192647797	chr4:97569726-97569727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551225979	chr4:97569817-97569818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569594210	chr4:97569826-97569827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182137195	chr4:97569851-97569852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186733853	chr4:97569898-97569899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10004674	chr4:97570005-97570006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116483969	chr4:97570014-97570015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553443743	chr4:97570055-97570056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578086751	chr4:97570058-97570059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539244584	chr4:97570069-97570070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557614034	chr4:97570124-97570125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575991384	chr4:97570160-97570161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543381295	chr4:97570276-97570277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561661234	chr4:97570278-97570279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4296683	chr4:97570279-97570280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs191545060	chr4:97570284-97570285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144355267	chr4:97570309-97570310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532914728	chr4:97570328-97570329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565109844	chr4:97570355-97570356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563184726	chr4:97570391-97570392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530711891	chr4:97570396-97570397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72689740	chr4:97570402-97570403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567515358	chr4:97570419-97570420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534735673	chr4:97570482-97570483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189806500	chr4:97570509-97570510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193144463	chr4:97570542-97570543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114200223	chr4:97570554-97570555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185330577	chr4:97570564-97570565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190567630	chr4:97570605-97570606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11735922	chr4:97570607-97570608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs536899952	chr4:97570613-97570614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373229500	chr4:97570628-97570629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555310442	chr4:97570651-97570652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573521498	chr4:97570654-97570655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541041739	chr4:97570725-97570726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559121301	chr4:97570819-97570820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577659717	chr4:97570878-97570879	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97569600-97571800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:97570000-97571400	Enhancers	HUVEC	blood vessel
3	chr4:97570000-97571800	Enhancers	Dnd41	blood
4	chr4:97570200-97571600	Enhancers	NH-A	brain
5	chr4:97570600-97571800	Enhancers	Fetal Intestine Small	intestine
6	chr4:97570800-97571400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:97571800-97574200	Weak transcription	Dnd41	blood
8	chr4:97573400-97573600	Enhancers	NH-A	brain
9	chr4:97574200-97575400	ZNF genes & repeats	Dnd41	blood
10	chr4:97574200-97575600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:97574200-97575600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:97575400-97575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:97575600-97577400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:97576200-97577200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:97576400-97576800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:97576400-97577400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:97591600-97592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:97593400-97593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:97595400-97599200	Enhancers	HUVEC	blood vessel
20	chr4:97596200-97597600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:97596600-97597600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:97596600-97597600	Enhancers	NH-A	brain
23	chr4:97597600-97598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:97597600-97598600	Weak transcription	NH-A	brain
25	chr4:97598400-97599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:97598600-97598800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:97598600-97599000	Enhancers	NH-A	brain
30	chr4:97599000-97603400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:97603400-97603800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:97611200-97611400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:97611400-97612200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:97612200-97613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:97613000-97618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:97618800-97619000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:97619000-97619800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:97619800-97620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:97619800-97620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:97619800-97620600	Enhancers	Brain Germinal Matrix	brain
41	chr4:97619800-97620800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:97619800-97620800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:97620200-97620600	Enhancers	Fetal Kidney	kidney
44	chr4:97620600-97624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:97620800-97624200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:97620800-97624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:97624200-97624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:97624200-97625000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:97624200-97625000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:97624200-97625000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links