Variant report

Variant	nsv527025
Chromosome Location	chr2:11823585-11833459
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	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
2	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
3	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
4	chr2:11832588..11833837-chr2:11918873..11919890,5	MCF-7	breast:
5	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:
6	chr2:11832559..11835214-chr2:11848775..11850407,2	MCF-7	breast:
7	chr2:11828369..11829399-chr2:11919036..11920400,7	MCF-7	breast:
8	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
9	chr2:11726425..11728921-chr2:11823603..11825849,2	K562	blood:
10	chr2:11832958..11833976-chr2:11924790..11925426,3	MCF-7	breast:
11	chr2:11680434..11682728-chr2:11821990..11824270,2	MCF-7	breast:
12	chr2:11832816..11833693-chr2:11918698..11919916,5	K562	blood:
13	chr2:11832764..11833679-chr2:11919280..11919852,3	MCF-7	breast:
14	chr2:11828422..11829094-chr2:11919060..11919602,2	MCF-7	breast:
15	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
16	chr2:11606289..11608008-chr2:11821742..11823591,2	MCF-7	breast:
17	chr2:11755856..11757722-chr2:11823519..11825566,2	MCF-7	breast:
18	chr2:11821199..11824708-chr2:11826185..11828507,3	K562	blood:
19	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
20	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
21	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:
22	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
23	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:
24	chr2:11825505..11827525-chr2:11905750..11908186,2	K562	blood:
25	chr2:11821317..11823796-chr2:11831362..11833008,2	MCF-7	breast:
26	chr2:11831783..11832525-chr2:11919378..11919951,2	MCF-7	breast:
27	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
28	chr2:11634107..11636070-chr2:11826833..11828580,2	MCF-7	breast:
29	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
30	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
31	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
32	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
33	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
34	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
35	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
36	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265056	chromatin interactions
ENSG00000169016	chromatin interactions
ENSG00000264010	chromatin interactions
ENSG00000228496	chromatin interactions
ENSG00000230790	chromatin interactions
ENSG00000196208	chromatin interactions

Extended variants
information (count: 409 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6432226	chr2:11823585-11823586	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573795171	chr2:11823626-11823627	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185694521	chr2:11823639-11823640	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554437205	chr2:11823640-11823641	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573005744	chr2:11823641-11823642	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534033964	chr2:11823649-11823650	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534070044	chr2:11823656-11823657	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150345246	chr2:11823712-11823713	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138102217	chr2:11823720-11823721	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149535716	chr2:11823725-11823726	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565799133	chr2:11823726-11823727	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs75647885	chr2:11823744-11823745	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574423046	chr2:11823755-11823756	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541925216	chr2:11823756-11823757	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560440064	chr2:11823767-11823768	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115132154	chr2:11823780-11823781	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533757432	chr2:11823788-11823789	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372817265	chr2:11823814-11823815	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144254557	chr2:11823860-11823861	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564429764	chr2:11823932-11823933	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542693225	chr2:11824025-11824026	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372427520	chr2:11824035-11824036	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4233898	chr2:11824039-11824040	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368302329	chr2:11824089-11824090	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568461864	chr2:11824106-11824107	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535542686	chr2:11824107-11824108	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116469435	chr2:11824193-11824194	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190553109	chr2:11824253-11824254	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552679652	chr2:11824254-11824255	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183135287	chr2:11824299-11824300	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12477731	chr2:11824302-11824303	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558822422	chr2:11824329-11824330	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577189058	chr2:11824330-11824331	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538165081	chr2:11824340-11824341	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11682138	chr2:11824341-11824342	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187673904	chr2:11824360-11824361	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574383285	chr2:11824370-11824371	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527501883	chr2:11824379-11824380	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541511981	chr2:11824454-11824455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77301016	chr2:11824466-11824467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397774595	chr2:11824475-11824476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78342416	chr2:11824476-11824477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12465837	chr2:11824494-11824495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571848841	chr2:11824566-11824567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191018193	chr2:11824629-11824630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147474854	chr2:11824690-11824691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531854423	chr2:11824698-11824699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182536226	chr2:11824714-11824715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188050150	chr2:11824731-11824732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139962857	chr2:11824741-11824742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	20607354	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
2	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11818800-11824000	Weak transcription	Spleen	Spleen
5	chr2:11820800-11824400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:11821400-11825600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:11821400-11827800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:11821600-11823600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:11822000-11824200	Enhancers	Brain Anterior Caudate	brain
10	chr2:11822600-11823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:11822600-11823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:11822600-11823800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:11822600-11823800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:11822600-11824000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:11822600-11828200	Weak transcription	Pancreas	Pancrea
16	chr2:11822800-11827600	Weak transcription	Hela-S3	cervix
17	chr2:11823000-11823800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:11823000-11828200	Weak transcription	Psoas Muscle	Psoas
19	chr2:11823200-11823600	Weak transcription	Ovary	ovary
20	chr2:11823200-11824200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:11823400-11824200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:11823600-11824200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr2:11823600-11824400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:11823600-11826800	Enhancers	Ovary	ovary
25	chr2:11823800-11824000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:11823800-11824000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:11823800-11824000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:11823800-11824000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:11823800-11824000	Bivalent Enhancer	A549	lung
30	chr2:11823800-11824000	Bivalent Enhancer	HepG2	liver
31	chr2:11823800-11824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:11823800-11824200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:11823800-11824200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11823800-11824400	Enhancers	Brain Substantia Nigra	brain
35	chr2:11824000-11824200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:11824000-11824200	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr2:11824000-11824400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:11824200-11824400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:11824200-11824400	Enhancers	Brain Angular Gyrus	brain
40	chr2:11824200-11824400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr2:11824200-11827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:11824200-11828200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:11824200-11828200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:11824400-11826000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:11824400-11827800	Weak transcription	Brain Substantia Nigra	brain
46	chr2:11824600-11825400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:11825200-11825400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:11825400-11825600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:11825600-11826400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:11826000-11827800	Enhancers	Skeletal Muscle Female	skeletal muscle

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