Variant report

Variant	nsv430947
Chromosome Location	chr2:40080723-40141649
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
2	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:
3	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
4	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
5	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
6	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:
7	chr2:40140915..40141986-chr2:40781509..40782393,3	MCF-7	breast:
8	chr2:40140709..40141329-chr2:40986882..40987436,2	MCF-7	breast:
9	chr2:40140445..40141319-chr2:41925707..41926458,2	K562	blood:
10	chr2:40004496..40006686-chr2:40138159..40140367,2	MCF-7	breast:
11	chr2:40140525..40141334-chr2:42009019..42009970,2	K562	blood:
12	chr2:40140472..40141253-chr2:40471871..40472400,2	MCF-7	breast:
13	chr2:40140455..40141410-chr2:40986765..40987805,5	MCF-7	breast:
14	chr2:40064756..40065596-chr2:40082708..40083242,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138050	chromatin interactions

Extended variants
information (count: 2003 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2003 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17024445	chr2:40080723-40080724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543633852	chr2:40080731-40080732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114795705	chr2:40080747-40080748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573981132	chr2:40080752-40080753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190087938	chr2:40080754-40080755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181873630	chr2:40080772-40080773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186432878	chr2:40080773-40080774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559486525	chr2:40080791-40080792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552710598	chr2:40080841-40080842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141286933	chr2:40080880-40080881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551543349	chr2:40080909-40080910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563789067	chr2:40080919-40080920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143738944	chr2:40080928-40080929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146724822	chr2:40080935-40080936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563089113	chr2:40080966-40080967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567502650	chr2:40081031-40081032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530510907	chr2:40081043-40081044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528364606	chr2:40081053-40081054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546918158	chr2:40081057-40081058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140342267	chr2:40081063-40081064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189563582	chr2:40081099-40081100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180859758	chr2:40081104-40081105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545712945	chr2:40081116-40081117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186245561	chr2:40081127-40081128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370450296	chr2:40081128-40081129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116782630	chr2:40081229-40081230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191486387	chr2:40081259-40081260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535978991	chr2:40081369-40081370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564283565	chr2:40081435-40081436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183142428	chr2:40081465-40081466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373894725	chr2:40081489-40081490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34542589	chr2:40081491-40081492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574222923	chr2:40081528-40081529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541317417	chr2:40081544-40081545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188574196	chr2:40081549-40081550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577923809	chr2:40081550-40081551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545407001	chr2:40081552-40081553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563700838	chr2:40081579-40081580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11386398	chr2:40081581-40081582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531009756	chr2:40081603-40081604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528395421	chr2:40081606-40081607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543183576	chr2:40081622-40081623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561058900	chr2:40081646-40081647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191749742	chr2:40081671-40081672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546534523	chr2:40081680-40081681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571531323	chr2:40081692-40081693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546836284	chr2:40081763-40081764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532334928	chr2:40081764-40081765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183246787	chr2:40081828-40081829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568555291	chr2:40081829-40081830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40077400-40083600	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:40079400-40083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:40079400-40087600	Weak transcription	HMEC	breast
4	chr2:40079600-40081800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:40079800-40081000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:40079800-40081200	Enhancers	Fetal Thymus	thymus
7	chr2:40079800-40083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:40080000-40081600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:40080200-40080800	Weak transcription	HSMM	muscle
10	chr2:40080200-40081000	Enhancers	Thymus	Thymus
11	chr2:40080200-40081000	Enhancers	Dnd41	blood
12	chr2:40080200-40081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:40080600-40080800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:40080600-40080800	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:40080600-40080800	Enhancers	HSMMtube	muscle
16	chr2:40080800-40081000	Enhancers	HSMM	muscle
17	chr2:40081000-40081400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:40081000-40082000	Weak transcription	Thymus	Thymus
19	chr2:40081000-40082000	Weak transcription	Dnd41	blood
20	chr2:40081200-40081600	Weak transcription	Fetal Thymus	thymus
21	chr2:40081400-40082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:40081600-40082200	Enhancers	Fetal Thymus	thymus
23	chr2:40081600-40083600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:40081600-40083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:40081800-40082400	Enhancers	Primary B cells from cord blood	blood
26	chr2:40082000-40082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:40082000-40082800	Enhancers	Dnd41	blood
28	chr2:40082000-40083400	Enhancers	Thymus	Thymus
29	chr2:40082800-40083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:40083000-40083400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:40083400-40083600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:40083400-40086000	Weak transcription	Thymus	Thymus
33	chr2:40083600-40084000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:40084000-40084600	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:40086000-40086200	Enhancers	Thymus	Thymus
36	chr2:40087600-40088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:40087600-40088200	Enhancers	HMEC	breast
38	chr2:40087600-40088400	Enhancers	NHEK	skin
39	chr2:40087800-40088600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:40088200-40090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:40088200-40092800	Weak transcription	HMEC	breast
42	chr2:40090800-40091400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:40091400-40092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:40092400-40092600	Enhancers	Thymus	Thymus
45	chr2:40092400-40093800	Enhancers	Fetal Thymus	thymus
46	chr2:40092400-40094000	Enhancers	Dnd41	blood
47	chr2:40092600-40093000	Flanking Active TSS	Thymus	Thymus
48	chr2:40092800-40093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:40092800-40093600	Enhancers	HMEC	breast
50	chr2:40093000-40094000	Enhancers	Thymus	Thymus

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