Variant report

Variant	nsv580959
Chromosome Location	chr2:9951970-9975557
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:74)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:9975331..9978293-chr2:9978387..9980016,2	K562	blood:
2	chr2:9954341..9956671-chr2:9971127..9973681,2	K562	blood:
3	chr2:9975372..9980699-chr2:9981311..9986654,9	K562	blood:
4	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
5	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
6	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
7	chr2:9967455..9969831-chr2:10090554..10093541,2	K562	blood:
8	chr2:9954114..9958283-chr2:10172857..10175994,4	K562	blood:
9	chr2:9951674..9954142-chr2:10158863..10161812,2	MCF-7	breast:
10	chr2:9955031..9957285-chr2:10091673..10093774,2	K562	blood:
11	chr2:9953533..9955150-chr2:10188521..10190837,2	K562	blood:
12	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
13	chr2:9937133..9939802-chr2:9958329..9960666,2	MCF-7	breast:
14	chr2:9955633..9957217-chr2:9981364..9983659,2	MCF-7	breast:
15	chr2:9969831..9974999-chr2:9980864..9985156,9	MCF-7	breast:
16	chr2:9968571..9971604-chr2:9981989..9985687,7	MCF-7	breast:
17	chr2:9953957..9955549-chr2:9981308..9984882,3	MCF-7	breast:
18	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
19	chr2:9953510..9955032-chr2:9983493..9985198,2	MCF-7	breast:
20	chr2:9972632..9974449-chr2:9983622..9986276,2	MCF-7	breast:
21	chr2:9954879..9956876-chr2:9957733..9960340,3	K562	blood:
22	chr2:9969721..9971338-chr2:10260960..10263822,2	K562	blood:
23	chr2:9953495..9955824-chr2:9964200..9966123,2	K562	blood:
24	chr2:9954879..9956876-chr2:9957733..9960340,3	K562	blood:
25	chr2:9939775..9940459-chr2:9953750..9954369,2	MCF-7	breast:
26	chr2:9970684..9971435-chr2:9983705..9984702,2	MCF-7	breast:
27	chr2:9957012..9961532-chr2:9962183..9964607,4	MCF-7	breast:
28	chr2:9954081..9954722-chr5:16726991..16727551,2	MCF-7	breast:
29	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
30	chr2:9953452..9957551-chr2:10260663..10263596,3	K562	blood:
31	chr2:9939487..9940276-chr2:9953657..9954192,2	MCF-7	breast:
32	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
33	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
34	chr2:9959578..9960574-chr5:133706757..133707404,2	Hela-S3	cervix:
35	chr2:9962243..9964669-chr2:10088779..10091216,2	MCF-7	breast:
36	chr2:9952816..9955217-chr2:10179305..10181124,2	K562	blood:
37	chr2:9970023..9972600-chr2:9978871..9981245,2	K562	blood:
38	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
39	chr2:9953287..9954158-chr2:10212428..10212955,2	K562	blood:
40	chr2:9954341..9956671-chr2:9971127..9973681,2	K562	blood:
41	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
42	chr2:9954254..9954818-chr8:59963704..59964295,2	MCF-7	breast:
43	chr2:9694708..9697029-chr2:9954430..9956483,2	MCF-7	breast:
44	chr2:9953775..9955121-chr2:10188515..10189751,8	K562	blood:
45	chr2:9971528..9973130-chr2:10586604..10588487,2	K562	blood:
46	chr2:9957012..9961532-chr2:9962183..9964607,4	MCF-7	breast:
47	chr2:9953518..9955551-chr2:9982187..9983983,2	K562	blood:
48	chr2:9950272..9953415-chr2:9982302..9983925,3	MCF-7	breast:
49	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:
50	chr2:9972444..9974015-chr2:9987549..9989213,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119048	chromatin interactions
ENSG00000134317	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000260077	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000260476	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000272524	chromatin interactions

Extended variants
information (count: 918 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7568887	chr2:9951970-9951971	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199528277	chr2:9951981-9951982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs114166308	chr2:9952057-9952058	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs187744021	chr2:9952065-9952066	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs10803702	chr2:9952076-9952077	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530402122	chr2:9952116-9952117	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139757575	chr2:9952121-9952122	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs553012255	chr2:9952127-9952128	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575480304	chr2:9952129-9952130	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34949958	chr2:9952133-9952134	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114293735	chr2:9952147-9952148	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535393655	chr2:9952148-9952149	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs193121483	chr2:9952180-9952181	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs575029348	chr2:9952189-9952190	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544124907	chr2:9952195-9952196	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7559852	chr2:9952199-9952200	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs577495771	chr2:9952213-9952214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs546345744	chr2:9952226-9952227	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372057973	chr2:9952247-9952248	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs559769079	chr2:9952254-9952255	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs528487928	chr2:9952259-9952260	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570360682	chr2:9952274-9952275	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114043303	chr2:9952310-9952311	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561934647	chr2:9952323-9952324	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs530757630	chr2:9952372-9952373	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550445879	chr2:9952386-9952387	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs10803703	chr2:9952392-9952393	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532934961	chr2:9952413-9952414	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs386643049	chr2:9952467-9952468	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs56228327	chr2:9952468-9952469	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535107283	chr2:9952473-9952474	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs549009959	chr2:9952489-9952490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs568858031	chr2:9952537-9952538	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185501582	chr2:9952550-9952551	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs114544728	chr2:9952556-9952557	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577532904	chr2:9952579-9952580	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs190036235	chr2:9952590-9952591	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs553197199	chr2:9952596-9952597	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573336284	chr2:9952640-9952641	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192131192	chr2:9952655-9952656	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs368642403	chr2:9952660-9952661	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146661739	chr2:9952669-9952670	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs386643050	chr2:9952744-9952745	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564006515	chr2:9952745-9952746	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532969192	chr2:9952787-9952788	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs184341911	chr2:9952788-9952789	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs188599211	chr2:9952792-9952793	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs140125315	chr2:9952814-9952815	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs577399198	chr2:9952830-9952831	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs375966327	chr2:9952893-9952894	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9946000-9953600	Weak transcription	Osteobl	bone
4	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
5	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
6	chr2:9948400-9953200	Enhancers	NHEK	skin
7	chr2:9949800-9954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:9950000-9952200	Weak transcription	Placenta	Placenta
9	chr2:9950000-9953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:9950000-9953600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:9950000-9953600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:9950000-9953600	Weak transcription	HMEC	breast
13	chr2:9950000-9953800	Weak transcription	Lung	lung
14	chr2:9950000-9953800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:9950000-9953800	Weak transcription	HSMM	muscle
16	chr2:9950200-9952000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:9950200-9953400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:9950200-9953600	Weak transcription	Colonic Mucosa	Colon
19	chr2:9950200-9953600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:9950200-9953800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:9950200-9953800	Weak transcription	Fetal Thymus	thymus
22	chr2:9950200-9953800	Weak transcription	Gastric	stomach
23	chr2:9950400-9953800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:9950800-9954800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:9951200-9952600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:9951200-9953200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:9951200-9953600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:9951200-9954800	Enhancers	Esophagus	oesophagus
29	chr2:9951200-9955000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:9951400-9952000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:9951600-9952200	Bivalent Enhancer	HepG2	liver
32	chr2:9951600-9952400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:9951800-9952000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:9951800-9952600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:9951800-9952600	Enhancers	Psoas Muscle	Psoas
36	chr2:9951800-9952800	Enhancers	Pancreas	Pancrea
37	chr2:9951800-9953400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:9951800-9953800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:9951800-9953800	Weak transcription	A549	lung
40	chr2:9951800-9954400	Enhancers	HUVEC	blood vessel
41	chr2:9952000-9952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:9952000-9952200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:9952000-9952200	Enhancers	Spleen	Spleen
44	chr2:9952000-9952800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr2:9952000-9954400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:9952200-9952600	Weak transcription	Spleen	Spleen
47	chr2:9952200-9952600	Bivalent/Poised TSS	HepG2	liver
48	chr2:9952200-9955600	Enhancers	Placenta	Placenta
49	chr2:9952400-9952800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:9952400-9952800	Bivalent Enhancer	Fetal Stomach	stomach

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