Variant report

Variant	esv3336170
Chromosome Location	chr2:9891196-9891669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9881447..9883906-chr2:9890191..9892636,2	MCF-7	breast:
2	chr2:9891163..9893022-chr2:9896031..9898454,2	K562	blood:
3	chr2:9877856..9880099-chr2:9889992..9892399,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577850104	chr2:9891238-9891239	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs186079405	chr2:9891251-9891252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs190540867	chr2:9891253-9891254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs532228760	chr2:9891286-9891287	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs71437676	chr2:9891299-9891300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs10171491	chr2:9891300-9891301	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182853301	chr2:9891302-9891303	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528325064	chr2:9891331-9891332	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs150986228	chr2:9891349-9891350	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs547958300	chr2:9891376-9891377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs141065331	chr2:9891457-9891458	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs530630825	chr2:9891467-9891468	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs10171669	chr2:9891473-9891474	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6761920	chr2:9891483-9891484	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs539302546	chr2:9891489-9891490	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559326805	chr2:9891508-9891509	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs566119119	chr2:9891523-9891524	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs73158799	chr2:9891545-9891546	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186744216	chr2:9891553-9891554	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs138807192	chr2:9891569-9891570	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs543515212	chr2:9891571-9891572	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372384839	chr2:9891598-9891599	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs6747249	chr2:9891619-9891620	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576843159	chr2:9891624-9891625	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs545680325	chr2:9891663-9891664	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs559630605	chr2:9891664-9891665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9880200-9892800	Weak transcription	Thymus	Thymus
2	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
3	chr2:9884800-9892600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:9885200-9891200	Weak transcription	Right Ventricle	heart
5	chr2:9885200-9891400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:9885200-9893000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:9885400-9893000	Weak transcription	Left Ventricle	heart
8	chr2:9885600-9892600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:9885800-9891600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:9886000-9891600	Weak transcription	NHDF-Ad	bronchial
11	chr2:9886200-9892800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:9888600-9892000	Enhancers	Fetal Muscle Leg	muscle
13	chr2:9888600-9893000	Enhancers	GM12878-XiMat	blood
14	chr2:9889200-9891800	Weak transcription	Hela-S3	cervix
15	chr2:9889200-9891800	Weak transcription	NHEK	skin
16	chr2:9889200-9892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:9889400-9892000	Weak transcription	HMEC	breast
18	chr2:9889400-9892600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:9889400-9893200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:9890000-9892600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:9890000-9892600	Weak transcription	HSMM	muscle
23	chr2:9890400-9892600	Weak transcription	HSMMtube	muscle
24	chr2:9890600-9893000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:9890800-9891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:9890800-9891800	Enhancers	Fetal Heart	heart
27	chr2:9890800-9892800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:9890800-9894200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:9891000-9891200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:9891000-9891200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:9891000-9891400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:9891000-9891400	Enhancers	Fetal Thymus	thymus
34	chr2:9891000-9891600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr2:9891000-9891600	Enhancers	Psoas Muscle	Psoas
36	chr2:9891000-9891800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:9891000-9891800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:9891000-9892200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:9891000-9892600	Enhancers	A549	lung
40	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr2:9891200-9891400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:9891200-9891400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:9891200-9891400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:9891200-9891400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:9891200-9891400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:9891200-9891600	Enhancers	Right Ventricle	heart
47	chr2:9891200-9892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:9891400-9891600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:9891400-9891600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:9891400-9891600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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