Variant report

Variant	nsv961333
Chromosome Location	chr2:98894552-98898661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550085295	chr2:98894582-98894583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563665622	chr2:98894602-98894603	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7572757	chr2:98894608-98894609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529340795	chr2:98894634-98894635	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549502550	chr2:98894636-98894637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs566038128	chr2:98894641-98894642	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs371999430	chr2:98894672-98894673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs116123278	chr2:98894690-98894691	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs144425853	chr2:98894691-98894692	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs13407917	chr2:98894704-98894705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140487751	chr2:98894705-98894706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs199543057	chr2:98894717-98894718	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs541515750	chr2:98894733-98894734	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150442042	chr2:98894749-98894750	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs571850818	chr2:98894791-98894792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs540622259	chr2:98894800-98894801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs550364793	chr2:98894807-98894808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186591368	chr2:98894824-98894825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533442769	chr2:98894834-98894835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368826716	chr2:98894835-98894836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544116404	chr2:98894853-98894854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563684114	chr2:98894897-98894898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529498160	chr2:98894924-98894925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113148431	chr2:98894944-98894945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147604170	chr2:98895013-98895014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190983340	chr2:98895015-98895016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543342546	chr2:98895032-98895033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551781707	chr2:98895040-98895041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183256556	chr2:98895093-98895094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539328353	chr2:98895136-98895137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556428334	chr2:98895147-98895148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62157912	chr2:98895150-98895151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535264146	chr2:98895182-98895183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536387074	chr2:98895213-98895214	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186787185	chr2:98895214-98895215	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555190135	chr2:98895219-98895220	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571786458	chr2:98895220-98895221	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189642191	chr2:98895258-98895259	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373443050	chr2:98895279-98895280	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111969606	chr2:98895293-98895294	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577568108	chr2:98895308-98895309	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376428859	chr2:98895343-98895344	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79465347	chr2:98895401-98895402	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574297798	chr2:98895422-98895423	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542175975	chr2:98895440-98895441	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183370298	chr2:98895443-98895444	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs118119778	chr2:98895456-98895457	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528558649	chr2:98895475-98895476	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557503403	chr2:98895503-98895504	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141228535	chr2:98895519-98895520	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98888800-98897000	Weak transcription	Ovary	ovary
2	chr2:98893600-98895600	Enhancers	Placenta	Placenta
3	chr2:98893600-98897000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:98893800-98894800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:98894000-98896800	Enhancers	Stomach Mucosa	stomach
6	chr2:98894000-98897400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:98894200-98895800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:98894400-98896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:98894400-98896000	Weak transcription	Fetal Kidney	kidney
10	chr2:98894600-98894800	Bivalent Enhancer	Small Intestine	intestine
11	chr2:98894600-98895000	Enhancers	Colonic Mucosa	Colon
12	chr2:98894600-98898400	Enhancers	Esophagus	oesophagus
13	chr2:98894800-98895800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:98895000-98896200	Weak transcription	Colonic Mucosa	Colon
15	chr2:98895200-98895600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98895400-98897200	Enhancers	Gastric	stomach
17	chr2:98895600-98897600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:98895800-98896400	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:98895800-98897000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:98896000-98896200	Bivalent Enhancer	Small Intestine	intestine
21	chr2:98896000-98896400	Enhancers	Pancreas	Pancrea
22	chr2:98896000-98896800	Enhancers	Fetal Intestine Large	intestine
23	chr2:98896000-98897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:98896000-98898000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:98896000-98898000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:98896000-98898000	Enhancers	Fetal Intestine Small	intestine
27	chr2:98896000-98898200	Enhancers	Fetal Kidney	kidney
28	chr2:98896200-98897800	Enhancers	Colonic Mucosa	Colon
29	chr2:98896400-98896600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr2:98896400-98896800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:98896600-98897000	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:98896600-98897400	Bivalent Enhancer	A549	lung
33	chr2:98896600-98897400	Bivalent Enhancer	HepG2	liver
34	chr2:98896600-98898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:98896800-98897000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:98896800-98897200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:98896800-98897200	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr2:98896800-98897200	Active TSS	Stomach Mucosa	stomach
39	chr2:98896800-98897400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:98896800-98897400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:98896800-98897600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:98896800-98897600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:98896800-98897600	Enhancers	NHDF-Ad	bronchial
44	chr2:98896800-98898600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:98897000-98897200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:98897000-98897200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:98897000-98897400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:98897000-98897400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:98897000-98897400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:98897000-98897400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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