Variant report

Variant	nsv459975
Chromosome Location	chr2:184863746-184901392
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
2	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
3	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
4	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
5	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
6	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
7	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
8	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
9	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
10	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:

No data

Extended variants
information (count: 1011 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6726069	chr2:184863746-184863747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555932832	chr2:184863801-184863802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557940244	chr2:184863811-184863812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575801344	chr2:184863877-184863878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577714050	chr2:184863894-184863895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543553268	chr2:184863899-184863900	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs137971176	chr2:184863942-184863943	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538286862	chr2:184863979-184863980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149519575	chr2:184863981-184863982	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557872963	chr2:184864012-184864013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558895711	chr2:184864101-184864102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143140414	chr2:184864120-184864121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199762248	chr2:184864129-184864130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369505224	chr2:184864140-184864141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564706539	chr2:184864158-184864159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533352778	chr2:184864166-184864167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550283102	chr2:184864179-184864180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570029068	chr2:184864188-184864189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185459155	chr2:184864208-184864209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35828211	chr2:184864210-184864211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138799714	chr2:184864240-184864241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566036425	chr2:184864254-184864255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534917078	chr2:184864290-184864291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4633887	chr2:184864291-184864292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540169539	chr2:184864398-184864399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374430567	chr2:184864443-184864444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571462147	chr2:184864445-184864446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113205837	chr2:184864565-184864566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13398207	chr2:184864685-184864686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559984049	chr2:184864697-184864698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573526750	chr2:184864707-184864708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370267898	chr2:184864717-184864718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573425375	chr2:184864773-184864774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189532591	chr2:184864784-184864785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13398332	chr2:184864792-184864793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552560440	chr2:184864797-184864798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112218332	chr2:184864828-184864829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180737503	chr2:184864851-184864852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541371959	chr2:184864877-184864878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373435702	chr2:184864916-184864917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78299611	chr2:184864936-184864937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139917013	chr2:184864949-184864950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12994604	chr2:184864968-184864969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13018079	chr2:184864990-184864991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12994787	chr2:184865011-184865012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533601581	chr2:184865012-184865013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186594783	chr2:184865052-184865053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562281995	chr2:184865070-184865071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189919809	chr2:184865140-184865141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141152103	chr2:184865143-184865144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:184860600-184863800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:184861600-184863800	Enhancers	Fetal Intestine Large	intestine
4	chr2:184861600-184864400	Enhancers	Fetal Intestine Small	intestine
5	chr2:184861800-184863800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:184861800-184864200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:184862000-184864000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:184862400-184863800	Enhancers	Pancreas	Pancrea
9	chr2:184862400-184864400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:184862600-184865000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:184862800-184863800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:184862800-184864000	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:184863000-184863800	Weak transcription	Colonic Mucosa	Colon
14	chr2:184863200-184863800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:184863200-184864000	Enhancers	Hela-S3	cervix
16	chr2:184863200-184864400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:184863400-184863800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:184863600-184863800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:184863600-184864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:184863800-184864000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:184863800-184864000	Enhancers	Colonic Mucosa	Colon
22	chr2:184863800-184864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:184863800-184864200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:184863800-184870600	Weak transcription	Fetal Intestine Large	intestine
25	chr2:184863800-184870600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:184863800-184872000	Weak transcription	Pancreas	Pancrea
27	chr2:184864000-184865200	Enhancers	GM12878-XiMat	blood
28	chr2:184864000-184869200	Weak transcription	Hela-S3	cervix
29	chr2:184864200-184864600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:184864200-184864600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:184864400-184869800	Weak transcription	Fetal Intestine Small	intestine
32	chr2:184864600-184865200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:184864600-184865200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:184865000-184869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:184865200-184869000	Weak transcription	GM12878-XiMat	blood
36	chr2:184865200-184869200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:184869000-184869200	Enhancers	GM12878-XiMat	blood
38	chr2:184869000-184870000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:184869000-184870200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:184869000-184870200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:184869200-184870000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:184869200-184870000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:184869200-184870000	Enhancers	Hela-S3	cervix
44	chr2:184869200-184870600	Enhancers	Fetal Muscle Leg	muscle
45	chr2:184869200-184870600	Enhancers	Psoas Muscle	Psoas
46	chr2:184869200-184870600	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:184869200-184870800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:184869400-184870200	Enhancers	Fetal Brain Female	brain
49	chr2:184869400-184870400	Enhancers	Fetal Heart	heart
50	chr2:184869600-184870000	Enhancers	Fetal Brain Male	brain

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