Variant report

Variant	nsv528466
Chromosome Location	chr2:168402224-168447851
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:1)
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	chr2:168406722..168407375-chr2:168975138..168975697,2	MCF-7	breast:
2	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:
3	chr2:168432443..168434147-chr2:168458240..168461184,2	K562	blood:
4	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
5	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
6	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
7	chr2:168120652..168121595-chr2:168406649..168407520,3	MCF-7	breast:
8	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
9	chr2:167395944..167396563-chr2:168406690..168407659,4	MCF-7	breast:
10	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:
11	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
12	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
13	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XIRP2-1	chr2:168414647-168414843	XLOC_001742

No data

Extended variants
information (count: 1794 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10201243	chr2:168402224-168402225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188986516	chr2:168402323-168402324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181113817	chr2:168402334-168402335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565085889	chr2:168402345-168402346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369410946	chr2:168402352-168402353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577862569	chr2:168402404-168402405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540413058	chr2:168402406-168402407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560429228	chr2:168402464-168402465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75205951	chr2:168402479-168402480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11884537	chr2:168402480-168402481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562466831	chr2:168402489-168402490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373837999	chr2:168402531-168402532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551503269	chr2:168402537-168402538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186351991	chr2:168402564-168402565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150814473	chr2:168402570-168402571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547577571	chr2:168402587-168402588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567585531	chr2:168402628-168402629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536500988	chr2:168402713-168402714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549118391	chr2:168402776-168402777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550026605	chr2:168402804-168402805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569273911	chr2:168402805-168402806	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1406663	chr2:168402874-168402875	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139761608	chr2:168402912-168402913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577681994	chr2:168402944-168402945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534146982	chr2:168402945-168402946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77078089	chr2:168403060-168403061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144467128	chr2:168403077-168403078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543348749	chr2:168403119-168403120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189437889	chr2:168403131-168403132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34498395	chr2:168403200-168403201	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376866380	chr2:168403210-168403211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77420308	chr2:168403229-168403230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181031613	chr2:168403284-168403285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71428978	chr2:168403292-168403293	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547613294	chr2:168403337-168403338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377548940	chr2:168403374-168403375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146615914	chr2:168403392-168403393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141337429	chr2:168403401-168403402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550095010	chr2:168403456-168403457	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541222170	chr2:168403485-168403486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569501509	chr2:168403556-168403557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75379938	chr2:168403600-168403601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538256000	chr2:168403618-168403619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551459841	chr2:168403619-168403620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571412243	chr2:168403620-168403621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186387362	chr2:168403661-168403662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553843159	chr2:168403672-168403673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1227136	chr2:168403680-168403681	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536426133	chr2:168403690-168403691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114886289	chr2:168403715-168403716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168385600-168411600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:168393400-168412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:168398400-168407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:168398600-168407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:168399800-168408000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:168400400-168405000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:168401400-168402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:168401400-168412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:168401800-168404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:168402000-168407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:168402600-168403800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:168402800-168403600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:168402800-168403600	Enhancers	HepG2	liver
17	chr2:168403000-168403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:168403200-168408600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:168403400-168403600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:168403400-168403800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:168403800-168404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:168404200-168404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:168406000-168406200	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:168406600-168407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:168407400-168408400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:168407400-168408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:168407400-168413200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:168407600-168408400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:168407600-168408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:168407800-168408200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:168407800-168408400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:168408000-168408400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:168408000-168408400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:168408400-168411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:168408400-168413000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:168408600-168408800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:168408800-168410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:168409800-168411800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:168411600-168412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr2:168411800-168412000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:168412000-168412400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:168412000-168412600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:168412200-168415400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:168412400-168415200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr2:168413200-168415200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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