Variant report

Variant	esv3439845
Chromosome Location	chr2:10568326-10571274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
2	chr2:10561260..10564585-chr2:10565466..10568336,3	MCF-7	breast:
3	chr2:10571135..10572690-chr2:10575390..10577231,2	K562	blood:
4	chr2:10547359..10549276-chr2:10571069..10572635,2	MCF-7	breast:
5	chr2:10258799..10263617-chr2:10570053..10575857,8	MCF-7	breast:
6	chr2:10566694..10569461-chr2:10570091..10572722,5	MCF-7	breast:
7	chr2:10566694..10569461-chr2:10570091..10572722,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171848	chromatin interactions
ENSG00000272524	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137972230	chr2:10568335-10568336	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563354297	chr2:10568336-10568337	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566103734	chr2:10568340-10568341	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs180872494	chr2:10568352-10568353	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551860938	chr2:10568381-10568382	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149496960	chr2:10568451-10568452	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537694845	chr2:10568510-10568511	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555618688	chr2:10568569-10568570	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113303245	chr2:10568616-10568617	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546368778	chr2:10568617-10568618	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535000828	chr2:10568624-10568625	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553305212	chr2:10568705-10568706	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572017966	chr2:10568728-10568729	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539151119	chr2:10568733-10568734	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185934074	chr2:10568742-10568743	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368096572	chr2:10568745-10568746	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576136759	chr2:10568750-10568751	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567100531	chr2:10568808-10568809	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561881985	chr2:10568809-10568810	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147873437	chr2:10568813-10568814	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573958102	chr2:10568846-10568847	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116514808	chr2:10568881-10568882	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11897672	chr2:10568888-10568889	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112146934	chr2:10568935-10568936	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551579488	chr2:10568954-10568955	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs192023108	chr2:10568974-10568975	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546086557	chr2:10568984-10568985	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530995781	chr2:10568987-10568988	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11904157	chr2:10569021-10569022	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11903106	chr2:10569112-10569113	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534945505	chr2:10569123-10569124	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563948089	chr2:10569129-10569130	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4507071	chr2:10569140-10569141	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546931215	chr2:10569158-10569159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73914082	chr2:10569187-10569188	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183948755	chr2:10569194-10569195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs11904263	chr2:10569230-10569231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186210356	chr2:10569378-10569379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs13034097	chr2:10569401-10569402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10171725	chr2:10569410-10569411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190567838	chr2:10569427-10569428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs13001562	chr2:10569428-10569429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs13001563	chr2:10569430-10569431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112588277	chr2:10569437-10569438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs62127078	chr2:10569520-10569521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs62127079	chr2:10569532-10569533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76231509	chr2:10569552-10569553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77746254	chr2:10569564-10569565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111214546	chr2:10569589-10569590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537871138	chr2:10569670-10569671	Weak transcription	Chromatin interactive region	2 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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
4	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10553000-10573200	Weak transcription	K562	blood
6	chr2:10554600-10579200	Weak transcription	NHDF-Ad	bronchial
7	chr2:10554800-10572600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:10555800-10572600	Weak transcription	HSMM	muscle
9	chr2:10558200-10568600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:10559400-10568400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:10559400-10568400	Strong transcription	Liver	Liver
12	chr2:10559400-10568800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:10559400-10568800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:10559400-10569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:10559600-10568400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:10559600-10568400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:10559600-10568400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:10559600-10568400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:10559600-10568400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:10559600-10568800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:10559600-10568800	Strong transcription	Lung	lung
22	chr2:10559600-10569000	Strong transcription	Primary T cells from cord blood	blood
23	chr2:10559800-10568400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:10559800-10568400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:10559800-10568600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:10559800-10568600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:10559800-10568600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:10559800-10568600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:10559800-10568800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10559800-10569200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:10560000-10568800	Strong transcription	Adipose Nuclei	Adipose
32	chr2:10560000-10568800	Strong transcription	Pancreas	Pancrea
33	chr2:10561200-10569200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:10562600-10569400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:10563000-10575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:10563600-10570200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:10563600-10571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:10563800-10572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:10563800-10572000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:10563800-10572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:10564600-10569200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr2:10564800-10570200	Weak transcription	Hela-S3	cervix
43	chr2:10565000-10569000	Weak transcription	Fetal Thymus	thymus
44	chr2:10565000-10571000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:10565200-10571400	Weak transcription	Primary B cells from cord blood	blood
46	chr2:10565200-10572200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:10565400-10572800	Weak transcription	NH-A	brain
48	chr2:10565600-10568400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10565600-10568600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10565800-10568600	Strong transcription	Aorta	Aorta

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