Variant report

Variant	esv1002315
Chromosome Location	chr2:99361475-99368975
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99363918..99365909-chr2:99377187..99378693,2	MCF-7	breast:
2	chr2:99360967..99363379-chr2:99408314..99410102,2	MCF-7	breast:
3	chr2:99361547..99363646-chr2:99366990..99369948,2	MCF-7	breast:
4	chr2:99356397..99359071-chr2:99359903..99362484,2	K562	blood:
5	chr2:99359454..99362384-chr2:99372139..99374340,2	MCF-7	breast:
6	chr2:99358144..99360845-chr2:99364555..99366061,2	MCF-7	breast:
7	chr2:99361547..99363646-chr2:99366990..99369948,2	MCF-7	breast:
8	chr2:99346543..99348258-chr2:99368411..99371115,2	MCF-7	breast:
9	chr2:99346209..99349698-chr2:99359488..99362618,3	MCF-7	breast:
10	chr2:99367443..99369636-chr2:99372138..99374766,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC50-1	chr2:99367783-99368056	XLOC_001587
2	lnc-UNC50-1	chr2:99367783-99368040	NONHSAT072721

No data

Variant related genes	Relation type
ENSG00000071073	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532077713	chr2:99361497-99361498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552235415	chr2:99361551-99361552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562373151	chr2:99361596-99361597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531334917	chr2:99361638-99361639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143874101	chr2:99361693-99361694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147321425	chr2:99361730-99361731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534127482	chr2:99361753-99361754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565094308	chr2:99361767-99361768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547557770	chr2:99361843-99361844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367993107	chr2:99361858-99361859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140015482	chr2:99361914-99361915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35165299	chr2:99361967-99361968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539580669	chr2:99361976-99361977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556596787	chr2:99362046-99362047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563723487	chr2:99362125-99362126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371921497	chr2:99362132-99362133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149436759	chr2:99362168-99362169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs17021908	chr2:99362181-99362182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs561445695	chr2:99362217-99362218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574758064	chr2:99362235-99362236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540451898	chr2:99362250-99362251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560425509	chr2:99362372-99362373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144764882	chr2:99362377-99362378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370186217	chr2:99362383-99362384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1913621	chr2:99362400-99362401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs577464020	chr2:99362402-99362403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377193546	chr2:99362415-99362416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547736178	chr2:99362471-99362472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57884321	chr2:99362528-99362529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369586744	chr2:99362535-99362536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527944606	chr2:99362558-99362559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191796370	chr2:99362590-99362591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570982569	chr2:99362625-99362626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17704869	chr2:99362645-99362646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560326921	chr2:99362666-99362667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532523753	chr2:99362670-99362671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148560803	chr2:99362687-99362688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183210432	chr2:99362712-99362713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535874016	chr2:99362722-99362723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555767088	chr2:99362734-99362735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566066796	chr2:99362768-99362769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534109089	chr2:99362827-99362828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534946968	chr2:99362833-99362834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554105329	chr2:99362838-99362839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2013983	chr2:99362844-99362845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545943271	chr2:99362845-99362846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4850886	chr2:99362846-99362847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535869060	chr2:99362849-99362850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186424194	chr2:99362853-99362854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12616910	chr2:99362905-99362906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	17713554	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99354600-99364600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:99354800-99364000	Weak transcription	Dnd41	blood
4	chr2:99355000-99362200	Weak transcription	Thymus	Thymus
5	chr2:99359200-99362400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:99359200-99362400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:99359200-99362600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:99359200-99362600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:99359200-99362800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:99359200-99363000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:99359400-99362400	Enhancers	Primary T cells from cord blood	blood
12	chr2:99359400-99362400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:99359400-99362400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:99359600-99362200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:99359600-99364200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:99359600-99364400	Weak transcription	Placenta	Placenta
17	chr2:99359600-99364400	Weak transcription	Spleen	Spleen
18	chr2:99359600-99367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
20	chr2:99359800-99362200	Weak transcription	Right Ventricle	heart
21	chr2:99360000-99362400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:99360200-99361600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:99360400-99362600	Enhancers	Fetal Heart	heart
24	chr2:99361000-99362000	Enhancers	HepG2	liver
25	chr2:99361200-99364200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:99361200-99364200	Weak transcription	Fetal Thymus	thymus
27	chr2:99361200-99365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:99361400-99363800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:99361400-99364400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:99361400-99364400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:99361400-99364400	Weak transcription	HMEC	breast
32	chr2:99361400-99365400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:99361400-99365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
35	chr2:99361600-99364400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:99362000-99362400	Weak transcription	HepG2	liver
37	chr2:99362200-99362400	Enhancers	Right Ventricle	heart
38	chr2:99362200-99362400	Enhancers	Thymus	Thymus
39	chr2:99362200-99362600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:99362200-99364200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:99362400-99364000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:99362400-99364000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:99362400-99364000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:99362400-99364200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:99362400-99365200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:99362400-99372800	Weak transcription	Primary T cells from cord blood	blood
47	chr2:99362600-99364200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:99362600-99364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:99362800-99364200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:99363000-99363400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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