Variant report

Variant	nsv875554
Chromosome Location	chr2:187873808-187964942
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187932935..187935930-chr2:187940865..187943648,2	K562	blood:
2	chr2:187897255..187900146-chr2:187902237..187903869,2	K562	blood:
3	chr2:187867683..187871574-chr2:187879806..187883521,7	K562	blood:
4	chr2:187867081..187871574-chr2:187878327..187884066,8	K562	blood:
5	chr2:187950499..187953541-chr2:187954538..187958392,4	K562	blood:
6	chr2:187934718..187936362-chr2:187937597..187939384,2	K562	blood:
7	chr2:187873118..187875101-chr2:187880377..187882881,2	K562	blood:
8	chr2:187898106..187900647-chr2:187900894..187905200,4	K562	blood:
9	chr2:187925636..187928113-chr2:187928686..187930487,2	K562	blood:
10	chr2:187933363..187936132-chr2:187941407..187943562,2	MCF-7	breast:
11	chr2:187871482..187874216-chr2:187888113..187890485,2	K562	blood:
12	chr2:187886797..187888466-chr2:187901299..187904114,2	K562	blood:
13	chr2:187933363..187936132-chr2:187941407..187943562,2	MCF-7	breast:
14	chr2:187950499..187953541-chr2:187954538..187958392,4	K562	blood:
15	chr2:187875227..187877499-chr2:187878091..187880121,3	K562	blood:
16	chr2:187957403..187959802-chr2:187965098..187967313,2	K562	blood:
17	chr2:187933488..187935746-chr2:187936709..187938495,2	K562	blood:
18	chr2:187880614..187882392-chr2:187883070..187885424,2	K562	blood:
19	chr2:187933488..187935746-chr2:187936709..187938495,2	K562	blood:
20	chr2:187870104..187873054-chr2:187885358..187887702,2	K562	blood:
21	chr2:187873118..187875101-chr2:187880377..187882881,2	K562	blood:
22	chr2:187925636..187928113-chr2:187928686..187930487,2	K562	blood:
23	chr2:187934718..187936362-chr2:187937597..187939384,2	K562	blood:
24	chr2:187899520..187902251-chr2:187902348..187903878,2	MCF-7	breast:
25	chr2:187867137..187871328-chr2:187871364..187877357,10	K562	blood:
26	chr2:187897255..187900146-chr2:187902237..187903869,2	K562	blood:
27	chr2:187899520..187902251-chr2:187902348..187903878,2	MCF-7	breast:
28	chr2:187898106..187900647-chr2:187900894..187905200,4	K562	blood:
29	chr2:187866102..187868724-chr2:187915378..187917505,2	K562	blood:
30	chr2:187886797..187888466-chr2:187901299..187904114,2	K562	blood:
31	chr2:187880614..187882392-chr2:187883070..187885424,2	K562	blood:
32	chr2:187932935..187935930-chr2:187940865..187943648,2	K562	blood:
33	chr2:187871482..187874216-chr2:187888113..187890485,2	K562	blood:
34	chr2:187871456..187873385-chr2:187874938..187877496,2	K562	blood:
35	chr2:187875227..187877499-chr2:187878091..187880121,3	K562	blood:
36	chr2:187811925..187813493-chr2:187872646..187874696,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226553	chromatin interactions
ENSG00000224063	chromatin interactions

Extended variants
information (count: 1246 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3845716	chr2:187873808-187873809	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553533044	chr2:187873844-187873845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572365275	chr2:187873958-187873959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536564908	chr2:187873969-187873970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560150667	chr2:187873998-187873999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576211495	chr2:187874079-187874080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142275225	chr2:187874086-187874087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3843326	chr2:187874115-187874116	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372555901	chr2:187874143-187874144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541367988	chr2:187874146-187874147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566483159	chr2:187874167-187874168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559495105	chr2:187874175-187874176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527545772	chr2:187874226-187874227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375750373	chr2:187874237-187874238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548146912	chr2:187874243-187874244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561195259	chr2:187874253-187874254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138127499	chr2:187874263-187874264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs58306836	chr2:187874266-187874267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371884177	chr2:187874269-187874270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3043544	chr2:187874279-187874280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375215974	chr2:187874280-187874281	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200291591	chr2:187874299-187874300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368132274	chr2:187874308-187874309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201502151	chr2:187874309-187874310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3030357	chr2:187874314-187874315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs59930111	chr2:187874317-187874318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs56361598	chr2:187874321-187874322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs71017364	chr2:187874325-187874326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3030358	chr2:187874328-187874329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531518975	chr2:187874363-187874364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566393623	chr2:187874387-187874388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549748296	chr2:187874395-187874396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529328144	chr2:187874424-187874425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13414079	chr2:187874430-187874431	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13400709	chr2:187874432-187874433	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76849601	chr2:187874442-187874443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75946987	chr2:187874451-187874452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145912100	chr2:187874474-187874475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570057307	chr2:187874509-187874510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111352257	chr2:187874530-187874531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558890715	chr2:187874540-187874541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549480914	chr2:187874574-187874575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569308367	chr2:187874584-187874585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541180947	chr2:187874587-187874588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553300558	chr2:187874608-187874609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531933271	chr2:187874609-187874610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374718354	chr2:187874612-187874613	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561156757	chr2:187874628-187874629	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138867002	chr2:187874644-187874645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543555424	chr2:187874648-187874649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187868800-187877000	Weak transcription	Placenta	Placenta
3	chr2:187873200-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:187873600-187874600	Weak transcription	HMEC	breast
5	chr2:187874600-187876600	Enhancers	HMEC	breast
6	chr2:187874800-187875400	Enhancers	NHEK	skin
7	chr2:187874800-187876600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:187875400-187875800	Weak transcription	NHEK	skin
9	chr2:187875600-187875800	Enhancers	Psoas Muscle	Psoas
10	chr2:187875600-187876000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:187875600-187876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:187875800-187876200	Enhancers	NHEK	skin
13	chr2:187875800-187885200	Weak transcription	Psoas Muscle	Psoas
14	chr2:187876000-187876400	Enhancers	Fetal Kidney	kidney
15	chr2:187876000-187876600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:187876600-187878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:187877400-187878000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:187877800-187878200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:187878000-187878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:187878000-187878400	Enhancers	HSMM	muscle
21	chr2:187878000-187878400	Enhancers	NHDF-Ad	bronchial
22	chr2:187885800-187886000	Enhancers	Psoas Muscle	Psoas
23	chr2:187887000-187887200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:187887400-187887600	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:187887400-187888000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:187887800-187889200	Enhancers	Placenta	Placenta
27	chr2:187903200-187903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:187903400-187904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:187904400-187904800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:187904800-187906000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:187906000-187906600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:187915400-187915800	Enhancers	GM12878-XiMat	blood
33	chr2:187915800-187916400	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:187916400-187916800	Enhancers	GM12878-XiMat	blood
35	chr2:187919200-187920600	Enhancers	Liver	Liver
36	chr2:187919800-187920600	Enhancers	Adipose Nuclei	Adipose
37	chr2:187919800-187920600	Enhancers	Lung	lung
38	chr2:187920000-187920400	Enhancers	Left Ventricle	heart
39	chr2:187920000-187920400	Enhancers	Spleen	Spleen
40	chr2:187920000-187920400	Enhancers	K562	blood
41	chr2:187920000-187920600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:187920000-187920600	Enhancers	Right Atrium	heart
43	chr2:187920200-187920400	Enhancers	Colon Smooth Muscle	Colon
44	chr2:187920200-187920600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:187920400-187922600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:187927000-187927600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:187930000-187930600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:187935200-187935600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:187939800-187940000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:187939800-187940200	Enhancers	H1 Cell Line	embryonic stem cell

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