Variant report

Variant	nsv1004326
Chromosome Location	chr2:168403386-168452887
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	chr2:168120652..168121595-chr2:168406649..168407520,3	MCF-7	breast:
2	chr2:168406722..168407375-chr2:168975138..168975697,2	MCF-7	breast:
3	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
4	chr2:168432443..168434147-chr2:168458240..168461184,2	K562	blood:
5	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:
6	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:
7	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
8	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
9	chr2:167395944..167396563-chr2:168406690..168407659,4	MCF-7	breast:
10	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
11	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:
12	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
13	chr2:168407166..168410060-chr2:168411860..168414676,3	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: 1966 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146615914	chr2:168403392-168403393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141337429	chr2:168403401-168403402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550095010	chr2:168403456-168403457	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541222170	chr2:168403485-168403486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569501509	chr2:168403556-168403557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75379938	chr2:168403600-168403601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538256000	chr2:168403618-168403619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551459841	chr2:168403619-168403620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571412243	chr2:168403620-168403621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186387362	chr2:168403661-168403662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553843159	chr2:168403672-168403673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1227136	chr2:168403680-168403681	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536426133	chr2:168403690-168403691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114886289	chr2:168403715-168403716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576624159	chr2:168403724-168403725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559798835	chr2:168403736-168403737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12466155	chr2:168403763-168403764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564819688	chr2:168403768-168403769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574880218	chr2:168403773-168403774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572177885	chr2:168403779-168403780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541167908	chr2:168403805-168403806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149704707	chr2:168403843-168403844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529926378	chr2:168403928-168403929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543219171	chr2:168403929-168403930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145506617	chr2:168403933-168403934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532260921	chr2:168403946-168403947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534916037	chr2:168403974-168403975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551760633	chr2:168403981-168403982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571351412	chr2:168404032-168404033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111317635	chr2:168404153-168404154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1227135	chr2:168404158-168404159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1237906	chr2:168404173-168404174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147973587	chr2:168404174-168404175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71395291	chr2:168404203-168404204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201185009	chr2:168404204-168404205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71031296	chr2:168404223-168404224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201691463	chr2:168404224-168404225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556451133	chr2:168404277-168404278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191145123	chr2:168404302-168404303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568454937	chr2:168404312-168404313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183466570	chr2:168404392-168404393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185959778	chr2:168404400-168404401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537226588	chr2:168404404-168404405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370271312	chr2:168404419-168404420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1529306	chr2:168404458-168404459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs368744544	chr2:168404474-168404475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572117277	chr2:168404521-168404522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10184592	chr2:168404537-168404538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554737636	chr2:168404569-168404570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375257835	chr2:168404586-168404587	Weak 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:225 , 50 per page) page: 1 2 3 4 5

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	chr2:168401400-168412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:168401800-168404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:168402000-168407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:168402600-168403800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:168402800-168403600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:168402800-168403600	Enhancers	HepG2	liver
16	chr2:168403200-168408600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:168403400-168403600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:168403400-168403800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:168403800-168404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:168404200-168404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:168406000-168406200	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:168406600-168407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:168407400-168408400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:168407400-168408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:168407400-168413200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:168407600-168408400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:168407600-168408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:168407800-168408200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:168407800-168408400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:168408000-168408400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:168408000-168408400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:168408400-168411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:168408400-168413000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:168408600-168408800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:168408800-168410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:168409800-168411800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:168411600-168412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr2:168411800-168412000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:168412000-168412400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:168412000-168412600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:168412200-168415400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:168412400-168415200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr2:168413200-168415200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr2:168413400-168414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:168414000-168414400	Enhancers	Skeletal Muscle Male	skeletal muscle

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