Variant report

Variant	nsv580931
Chromosome Location	chr2:9922283-9927532
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9694755..9696304-chr2:9923143..9926045,2	MCF-7	breast:
2	chr2:9920726..9922513-chr2:10283585..10286351,2	K562	blood:
3	chr2:9920939..9923701-chr2:9941195..9943026,2	MCF-7	breast:
4	chr2:9921109..9922678-chr2:9930407..9932418,2	K562	blood:
5	chr2:9909947..9912173-chr2:9920104..9922544,2	MCF-7	breast:
6	chr2:9769330..9771189-chr2:9920813..9922392,2	MCF-7	breast:
7	chr2:9925610..9927951-chr2:9929865..9931540,2	MCF-7	breast:
8	chr2:9924453..9926268-chr2:9927914..9930082,2	K562	blood:
9	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
10	chr2:9921109..9926354-chr2:9930407..9935197,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134308	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000243491	chromatin interactions
ENSG00000271855	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669458	chr2:9922283-9922284	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578003132	chr2:9922292-9922293	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574378897	chr2:9922309-9922310	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375927655	chr2:9922350-9922351	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs367583077	chr2:9922359-9922360	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563040915	chr2:9922369-9922370	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77918809	chr2:9922376-9922377	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545284705	chr2:9922377-9922378	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565007936	chr2:9922388-9922389	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537147321	chr2:9922393-9922394	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557064768	chr2:9922396-9922397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544464667	chr2:9922446-9922447	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368951052	chr2:9922471-9922472	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374057844	chr2:9922490-9922491	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547373149	chr2:9922531-9922532	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567365634	chr2:9922541-9922542	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561053410	chr2:9922570-9922571	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529936260	chr2:9922571-9922572	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77789147	chr2:9922576-9922577	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191126955	chr2:9922586-9922587	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75934252	chr2:9922599-9922600	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79829167	chr2:9922621-9922622	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147611696	chr2:9922632-9922633	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs55917555	chr2:9922669-9922670	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554600141	chr2:9922698-9922699	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183141703	chr2:9922708-9922709	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs13406798	chr2:9922801-9922802	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376016631	chr2:9922819-9922820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7599932	chr2:9922835-9922836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372819249	chr2:9922836-9922837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187675421	chr2:9922901-9922902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545564980	chr2:9922929-9922930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78739188	chr2:9922968-9922969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147256197	chr2:9922978-9922979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527772962	chr2:9923031-9923032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192520753	chr2:9923036-9923037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142200600	chr2:9923039-9923040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114545668	chr2:9923040-9923041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201758559	chr2:9923094-9923095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549923725	chr2:9923096-9923097	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs199754713	chr2:9923097-9923098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200578867	chr2:9923098-9923099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs147131419	chr2:9923099-9923100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs55765995	chr2:9923102-9923103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79266691	chr2:9923149-9923150	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183916641	chr2:9923198-9923199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11690843	chr2:9923221-9923222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs58916270	chr2:9923249-9923250	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565929198	chr2:9923273-9923274	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534812724	chr2:9923307-9923308	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
3	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
5	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9918000-9922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:9918000-9923400	Enhancers	Fetal Intestine Large	intestine
8	chr2:9918000-9923400	Enhancers	Fetal Intestine Small	intestine
9	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:9918400-9922600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:9918600-9923600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:9919000-9922600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:9919000-9923400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:9919400-9922600	Enhancers	GM12878-XiMat	blood
15	chr2:9919400-9927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:9919800-9922600	Bivalent Enhancer	HepG2	liver
17	chr2:9919800-9923400	Enhancers	Placenta	Placenta
18	chr2:9920200-9923000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:9920200-9923400	Enhancers	HMEC	breast
20	chr2:9920200-9924000	Enhancers	Primary T cells from cord blood	blood
21	chr2:9920400-9922600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:9920400-9922600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:9920600-9924200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:9920800-9922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:9920800-9923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:9921000-9923200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:9921000-9923400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:9921200-9922400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:9921200-9922600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:9921400-9922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:9921400-9922600	Weak transcription	Esophagus	oesophagus
32	chr2:9921600-9922800	Enhancers	Fetal Muscle Leg	muscle
33	chr2:9921600-9923400	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:9922000-9923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:9922000-9923600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:9922200-9922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:9922200-9922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:9922200-9922600	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:9922200-9922800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:9922200-9922800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:9922200-9922800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:9922200-9922800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:9922200-9923000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:9922200-9923000	Flanking Active TSS	NHEK	skin
45	chr2:9922200-9923600	Enhancers	Fetal Thymus	thymus
46	chr2:9922400-9922600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:9922400-9922800	Enhancers	K562	blood
48	chr2:9922400-9923200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:9922600-9922800	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:9922600-9922800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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