Variant report

Variant	nsv522891
Chromosome Location	chr2:86278992-86281905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86277732..86280546-chr2:86295705..86298565,2	MCF-7	breast:
2	chr2:86278837..86281699-chr2:86305012..86307406,2	K562	blood:
3	chr2:86280557..86282112-chr2:86286059..86288856,2	K562	blood:
4	chr2:86280518..86283436-chr2:86291775..86293685,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10153790	chr2:86278992-86278993	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3770084	chr2:86279005-86279006	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189125721	chr2:86279022-86279023	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541947163	chr2:86279023-86279024	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560209174	chr2:86279084-86279085	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374548900	chr2:86279094-86279095	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528312172	chr2:86279110-86279111	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546489168	chr2:86279137-86279138	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565044533	chr2:86279167-86279168	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532329203	chr2:86279180-86279181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550819801	chr2:86279209-86279210	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568796190	chr2:86279256-86279257	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529693094	chr2:86279295-86279296	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146294804	chr2:86279367-86279368	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566578932	chr2:86279368-86279369	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533823149	chr2:86279398-86279399	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558903393	chr2:86279461-86279462	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529739509	chr2:86279487-86279488	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538190607	chr2:86279503-86279504	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192179428	chr2:86279560-86279561	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78190716	chr2:86279568-86279569	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368092570	chr2:86279612-86279613	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78418680	chr2:86279623-86279624	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76639036	chr2:86279624-86279625	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77355787	chr2:86279625-86279626	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76156645	chr2:86279627-86279628	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35742958	chr2:86279644-86279645	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78117048	chr2:86279663-86279664	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139560608	chr2:86279757-86279758	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546250827	chr2:86279783-86279784	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564951744	chr2:86279833-86279834	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35618928	chr2:86279837-86279838	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544211133	chr2:86279855-86279856	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562770257	chr2:86279856-86279857	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560160747	chr2:86279860-86279861	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529973850	chr2:86279868-86279869	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548209445	chr2:86279878-86279879	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375734477	chr2:86279891-86279892	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144209258	chr2:86279898-86279899	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527395070	chr2:86279904-86279905	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552233536	chr2:86279925-86279926	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142989159	chr2:86279927-86279928	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367827992	chr2:86279985-86279986	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371277805	chr2:86280011-86280012	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375544799	chr2:86280022-86280023	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368463189	chr2:86280023-86280024	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372456797	chr2:86280049-86280050	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377139231	chr2:86280055-86280056	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35625755	chr2:86280058-86280059	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183788330	chr2:86280064-86280065	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Schizophrenia	21346763	CNVD
Autism	22495309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr2:86251200-86283000	Strong transcription	HepG2	liver
3	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:86264000-86281800	Strong transcription	Fetal Brain Female	brain
11	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:86264400-86279400	Strong transcription	Hela-S3	cervix
13	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:86264400-86285400	Strong transcription	A549	lung
15	chr2:86265200-86281600	Strong transcription	HMEC	breast
16	chr2:86265200-86284000	Strong transcription	NHEK	skin
17	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
19	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
20	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:86265600-86282000	Strong transcription	K562	blood
23	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
24	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:86265800-86280400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:86266000-86281800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:86266000-86282800	Strong transcription	Gastric	stomach
31	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine
33	chr2:86266000-86287800	Weak transcription	Right Atrium	heart
34	chr2:86266200-86280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:86266200-86281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:86266200-86281400	Strong transcription	NHLF	lung
37	chr2:86266200-86281600	Strong transcription	Osteobl	bone
38	chr2:86266200-86282200	Strong transcription	GM12878-XiMat	blood
39	chr2:86266200-86282800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:86266200-86282800	Strong transcription	Fetal Stomach	stomach
41	chr2:86266200-86284600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:86266400-86281400	Strong transcription	Liver	Liver
43	chr2:86266400-86281600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:86266400-86288800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:86266600-86285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:86266800-86289800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:86267000-86281400	Strong transcription	HSMMtube	muscle
49	chr2:86267200-86290800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:86267400-86283200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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