Variant report

Variant	nsv875764
Chromosome Location	chr2:210195717-210240990
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209272192..209273114-chr2:210195894..210196720,4	MCF-7	breast:
2	chr2:210232168..210234903-chr2:210243196..210246928,4	MCF-7	breast:
3	chr2:210229068..210231553-chr2:210286717..210289025,2	MCF-7	breast:
4	chr2:210198908..210199771-chr2:210420683..210421740,3	MCF-7	breast:
5	chr2:210209759..210211803-chr2:210221775..210224209,2	MCF-7	breast:
6	chr2:210200748..210201382-chr2:210288131..210289052,2	MCF-7	breast:
7	chr2:210198604..210199864-chr2:210288126..210289099,23	MCF-7	breast:
8	chr2:210232889..210235431-chr2:210287051..210289386,3	MCF-7	breast:
9	chr2:210198810..210200359-chr2:210287858..210289386,45	MCF-7	breast:
10	chr2:210199940..210202124-chr2:210287908..210290540,2	MCF-7	breast:
11	chr2:210218244..210221102-chr2:210263734..210265265,2	MCF-7	breast:
12	chr2:210232314..210234068-chr2:211034743..211037844,3	MCF-7	breast:
13	chr2:210209759..210211803-chr2:210221775..210224209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231294	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000078018	chromatin interactions
ENSG00000144445	chromatin interactions

Extended variants
information (count: 1061 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1061 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10183434	chr2:210195717-210195718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112246128	chr2:210195740-210195741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114164202	chr2:210195756-210195757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574613834	chr2:210195814-210195815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139501912	chr2:210195839-210195840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60079548	chr2:210195841-210195842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540351360	chr2:210195844-210195845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556666736	chr2:210195864-210195865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560357943	chr2:210195876-210195877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10183558	chr2:210195881-210195882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192251339	chr2:210195919-210195920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139223589	chr2:210195967-210195968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149958195	chr2:210196061-210196062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146503903	chr2:210196070-210196071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535055008	chr2:210196085-210196086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139530459	chr2:210196217-210196218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144186938	chr2:210196279-210196280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548427747	chr2:210196283-210196284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184088960	chr2:210196293-210196294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111544310	chr2:210196324-210196325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566937700	chr2:210196344-210196345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146586418	chr2:210196379-210196380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57340402	chr2:210196402-210196403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537819805	chr2:210196408-210196409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6711968	chr2:210196443-210196444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572393471	chr2:210196459-210196460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1470499	chr2:210196501-210196502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149160976	chr2:210196506-210196507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564116180	chr2:210196510-210196511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576232882	chr2:210196559-210196560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543129427	chr2:210196605-210196606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72989928	chr2:210196618-210196619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151299569	chr2:210196642-210196643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576768873	chr2:210196662-210196663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5838161	chr2:210196681-210196682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202235824	chr2:210196682-210196683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545712541	chr2:210196691-210196692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562777251	chr2:210196706-210196707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531474888	chr2:210196774-210196775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1966799	chr2:210196796-210196797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560905463	chr2:210196797-210196798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530039023	chr2:210196803-210196804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546684653	chr2:210196826-210196827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192832452	chr2:210196910-210196911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6435521	chr2:210196942-210196943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373281871	chr2:210196961-210196962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7593140	chr2:210196989-210196990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13007765	chr2:210196993-210196994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7593157	chr2:210197043-210197044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373632531	chr2:210197106-210197107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210195000-210195800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:210195000-210196000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:210195200-210196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:210195200-210196000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:210195200-210196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:210195400-210196000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:210195400-210196000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:210195400-210196200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:210196000-210196200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:210196000-210199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:210199000-210199400	Enhancers	Brain Angular Gyrus	brain
12	chr2:210199000-210199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:210199000-210199600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:210199000-210199600	Active TSS	Brain Anterior Caudate	brain
15	chr2:210199200-210199400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:210199200-210199400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:210199200-210199600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:210199200-210199600	Enhancers	Liver	Liver
19	chr2:210199200-210199600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:210199200-210199600	Enhancers	Psoas Muscle	Psoas
21	chr2:210199200-210200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:210199400-210199600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr2:210199400-210199600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:210199400-210199600	Enhancers	Fetal Intestine Small	intestine
25	chr2:210205400-210205600	Enhancers	Ovary	ovary
26	chr2:210205400-210205800	Enhancers	NHEK	skin
27	chr2:210209200-210209400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:210209400-210211000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:210211000-210211600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:210211000-210212000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:210211000-210212000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:210211000-210212000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:210211200-210211600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:210211200-210211800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:210211200-210212000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:210211400-210212000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:210211400-210212000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:210211600-210212000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:210211600-210213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:210211800-210213200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:210212000-210213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:210212000-210213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:210212000-210213200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:210212000-210213200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:210212000-210213200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:210212000-210213400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:210212000-210214000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:210212600-210213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:210212800-210213800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:210212800-210214200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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