Variant report

Variant	nsv829489
Chromosome Location	chr2:86896770-86899157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86848186..86849985-chr2:86897353..86900305,2	MCF-7	breast:
2	chr2:86849384..86851412-chr2:86897140..86899162,2	MCF-7	breast:
3	chr2:86895644..86897358-chr2:86897383..86900357,2	MCF-7	breast:
4	chr2:86856951..86859444-chr2:86896714..86898569,2	MCF-7	breast:
5	chr2:86895644..86897358-chr2:86897383..86900357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	chromatin interactions
ENSG00000249884	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189866165	chr2:86896782-86896783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181555626	chr2:86896871-86896872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569333549	chr2:86896898-86896899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553032683	chr2:86896899-86896900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577745752	chr2:86896939-86896940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544984425	chr2:86896958-86896959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557707741	chr2:86896972-86896973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575961204	chr2:86896980-86896981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79344062	chr2:86896995-86896996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184706941	chr2:86897109-86897110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150461216	chr2:86897119-86897120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540400221	chr2:86897176-86897177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565024173	chr2:86897178-86897179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs115077693	chr2:86897214-86897215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371757993	chr2:86897226-86897227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189368737	chr2:86897247-86897248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570695065	chr2:86897279-86897280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs78340004	chr2:86897280-86897281	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182020546	chr2:86897293-86897294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554975185	chr2:86897336-86897337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549251962	chr2:86897338-86897339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs12613610	chr2:86897501-86897502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs534796889	chr2:86897511-86897512	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562724066	chr2:86897521-86897522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34819338	chr2:86897522-86897523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552806757	chr2:86897533-86897534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571333852	chr2:86897597-86897598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538640713	chr2:86897613-86897614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs138199653	chr2:86897666-86897667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534926659	chr2:86897709-86897710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542996340	chr2:86897710-86897711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534234293	chr2:86897755-86897756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142888904	chr2:86897810-86897811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187462618	chr2:86897827-86897828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201645891	chr2:86897848-86897849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115820028	chr2:86897881-86897882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs114460605	chr2:86897920-86897921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544210912	chr2:86897922-86897923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369640293	chr2:86897984-86897985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546253013	chr2:86898013-86898014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190670120	chr2:86898036-86898037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs530105420	chr2:86898065-86898066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs180902486	chr2:86898080-86898081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561199174	chr2:86898085-86898086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116469713	chr2:86898120-86898121	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146056749	chr2:86898132-86898133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546768498	chr2:86898137-86898138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373436255	chr2:86898194-86898195	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538777967	chr2:86898200-86898201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140047440	chr2:86898215-86898216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86888800-86898200	Weak transcription	Ovary	ovary
2	chr2:86891800-86898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:86892000-86901200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:86897400-86897600	Enhancers	A549	lung
5	chr2:86897400-86897800	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:86897400-86899000	Enhancers	Colon Smooth Muscle	Colon
7	chr2:86897600-86897800	Enhancers	Lung	lung
8	chr2:86897600-86898600	Enhancers	Right Atrium	heart
9	chr2:86897600-86898600	Weak transcription	A549	lung
10	chr2:86897600-86898800	Enhancers	Right Ventricle	heart
11	chr2:86897600-86899000	Enhancers	Placenta	Placenta
12	chr2:86897600-86899000	Enhancers	Left Ventricle	heart
13	chr2:86897600-86899000	Enhancers	Pancreas	Pancrea
14	chr2:86897600-86899600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:86897800-86898200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:86898000-86898600	Weak transcription	Lung	lung
17	chr2:86898000-86899600	Enhancers	Stomach Mucosa	stomach
18	chr2:86898000-86899600	Enhancers	Hela-S3	cervix
19	chr2:86898200-86898800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:86898200-86898800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:86898200-86898800	Enhancers	Ovary	ovary
22	chr2:86898200-86899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:86898200-86899000	Enhancers	Brain Substantia Nigra	brain
24	chr2:86898200-86899000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:86898200-86899000	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:86898200-86899600	Enhancers	Liver	Liver
27	chr2:86898200-86901000	Enhancers	HepG2	liver
28	chr2:86898400-86898800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:86898400-86899000	Enhancers	Brain Angular Gyrus	brain
30	chr2:86898400-86899000	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:86898400-86899000	Enhancers	Brain Hippocampus Middle	brain
32	chr2:86898400-86899000	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:86898400-86899000	Enhancers	Fetal Heart	heart
34	chr2:86898400-86899000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:86898400-86899000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:86898400-86899200	Enhancers	HUVEC	blood vessel
37	chr2:86898400-86900600	Enhancers	Fetal Intestine Large	intestine
38	chr2:86898600-86898800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:86898600-86899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:86898600-86899000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:86898600-86899000	Enhancers	Gastric	stomach
42	chr2:86898600-86899200	Enhancers	Brain Anterior Caudate	brain
43	chr2:86898600-86899200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:86898600-86899400	Enhancers	A549	lung
45	chr2:86898600-86899600	Enhancers	Lung	lung
46	chr2:86898600-86900400	Enhancers	Fetal Intestine Small	intestine
47	chr2:86898800-86899200	Enhancers	NHEK	skin
48	chr2:86898800-86902600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:86898800-86902600	Weak transcription	Right Ventricle	heart
50	chr2:86899000-86899400	Weak transcription	Placenta	Placenta

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