Variant report

Variant	nsv1000136
Chromosome Location	chr2:7337270-7379211
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7356720..7358394-chr2:7363396..7365011,2	MCF-7	breast:
2	chr2:7337101..7339316-chr2:7346517..7348557,2	K562	blood:
3	chr2:7351513..7354942-chr2:7355238..7358059,3	K562	blood:
4	chr2:7334770..7337311-chr2:7337607..7339692,2	K562	blood:
5	chr2:7343803..7345946-chr2:7353674..7355388,2	K562	blood:
6	chr2:7356720..7358394-chr2:7363396..7365011,2	MCF-7	breast:
7	chr2:7372077..7373726-chr2:7375808..7377753,2	K562	blood:
8	chr2:7355894..7358751-chr2:7359246..7361556,2	K562	blood:
9	chr2:7334770..7337311-chr2:7337607..7339692,2	K562	blood:
10	chr2:7342749..7343566-chr2:7503773..7504793,4	MCF-7	breast:
11	chr2:7337101..7339316-chr2:7346517..7348557,2	K562	blood:
12	chr2:7355894..7358751-chr2:7359246..7361556,2	K562	blood:
13	chr2:7343803..7345946-chr2:7353674..7355388,2	K562	blood:
14	chr2:7354602..7356366-chr2:7513542..7515647,2	K562	blood:
15	chr2:7342854..7343554-chr2:7811899..7812500,2	K562	blood:
16	chr2:7378951..7380518-chr2:7382090..7384439,2	K562	blood:
17	chr2:7351513..7354942-chr2:7355238..7358059,3	K562	blood:
18	chr2:7372077..7373726-chr2:7375808..7377753,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230515	chromatin interactions

Extended variants
information (count: 1432 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558212196	chr2:7337306-7337307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141534952	chr2:7337351-7337352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183540587	chr2:7337399-7337400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559772237	chr2:7337422-7337423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1404839	chr2:7337462-7337463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542381414	chr2:7337477-7337478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1880604	chr2:7337491-7337492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187468423	chr2:7337564-7337565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539818252	chr2:7337576-7337577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369369878	chr2:7337583-7337584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565074005	chr2:7337584-7337585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192274880	chr2:7337606-7337607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185376191	chr2:7337609-7337610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544793214	chr2:7337614-7337615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566936251	chr2:7337622-7337623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10183980	chr2:7337647-7337648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146181778	chr2:7337706-7337707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189403586	chr2:7337707-7337708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192916955	chr2:7337771-7337772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558386998	chr2:7337816-7337817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577922536	chr2:7337835-7337836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533520533	chr2:7337843-7337844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184336193	chr2:7337845-7337846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573337959	chr2:7337846-7337847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78936243	chr2:7337850-7337851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74502421	chr2:7337851-7337852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79463980	chr2:7337852-7337853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542686927	chr2:7337854-7337855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17672973	chr2:7337945-7337946	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs551972708	chr2:7337950-7337951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544885927	chr2:7337969-7337970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565158284	chr2:7338004-7338005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571065667	chr2:7338014-7338015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188312420	chr2:7338118-7338119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560484660	chr2:7338125-7338126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529350586	chr2:7338133-7338134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149847275	chr2:7338161-7338162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17672986	chr2:7338199-7338200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs538386939	chr2:7338209-7338210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551711864	chr2:7338224-7338225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571576605	chr2:7338226-7338227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534208378	chr2:7338266-7338267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181823363	chr2:7338285-7338286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544272342	chr2:7338287-7338288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186374756	chr2:7338297-7338298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150793639	chr2:7338310-7338311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377164946	chr2:7338311-7338312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140770998	chr2:7338314-7338315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143675680	chr2:7338318-7338319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148565144	chr2:7338330-7338331	Weak transcription	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
low-grade B-cell lymphoma tumor	18367492	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
T-cell prolymphocytic leukemia	17713554	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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7331000-7341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:7337000-7337400	Enhancers	GM12878-XiMat	blood
3	chr2:7341200-7344400	Enhancers	Fetal Brain Male	brain
4	chr2:7341600-7343200	Enhancers	Brain Germinal Matrix	brain
5	chr2:7341800-7342000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:7341800-7343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:7341800-7343200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:7341800-7343200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:7342000-7342400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:7342000-7342400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:7342000-7343000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:7342000-7343200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:7342000-7343200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:7342000-7343200	Enhancers	Fetal Brain Female	brain
15	chr2:7342400-7343400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:7342400-7349600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:7343000-7343200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:7343200-7343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:7343200-7343800	Weak transcription	Fetal Brain Female	brain
20	chr2:7343200-7348800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:7343200-7349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:7343400-7343600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:7343600-7348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:7343800-7344000	Enhancers	Fetal Brain Female	brain
25	chr2:7344000-7344400	Enhancers	Fetal Kidney	kidney
26	chr2:7344400-7347400	Weak transcription	Fetal Brain Male	brain
27	chr2:7345200-7349800	Weak transcription	Lung	lung
28	chr2:7345600-7346200	Enhancers	Spleen	Spleen
29	chr2:7345600-7347000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:7345600-7347200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:7345600-7347200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:7345800-7346600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:7346200-7349200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:7347200-7348400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:7347600-7347800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:7347800-7349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:7348200-7348400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:7348200-7349000	Enhancers	Colon Smooth Muscle	Colon
39	chr2:7348200-7350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:7348400-7348600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:7348400-7348600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:7348400-7348600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:7348400-7348600	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:7348400-7348600	Enhancers	Fetal Muscle Leg	muscle
45	chr2:7348600-7349800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:7348600-7349800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:7348600-7349800	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:7348800-7349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:7349200-7349400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:7349200-7350400	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links