Variant report

Variant	nsv1013671
Chromosome Location	chr2:184830707-184882606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
2	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
3	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
4	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
5	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
6	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:

Extended variants
information (count: 859 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76635444	chr2:184830721-184830722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191231602	chr2:184830732-184830733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146258245	chr2:184830744-184830745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553248364	chr2:184830805-184830806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573301726	chr2:184830816-184830817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200784734	chr2:184830850-184830851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182978992	chr2:184830878-184830879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74794007	chr2:184830880-184830881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575742534	chr2:184830896-184830897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35357228	chr2:184830901-184830902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398080883	chr2:184830915-184830916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397690353	chr2:184830916-184830917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544609799	chr2:184830955-184830956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561284353	chr2:184830971-184830972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574598585	chr2:184830983-184830984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374554169	chr2:184831002-184831003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368482700	chr2:184831015-184831016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540432148	chr2:184831049-184831050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368176443	chr2:184831052-184831053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371649911	chr2:184831061-184831062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532102063	chr2:184831067-184831068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551882249	chr2:184831206-184831207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375756149	chr2:184831255-184831256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370205953	chr2:184831315-184831316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368328561	chr2:184831334-184831335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564413762	chr2:184831349-184831350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562231656	chr2:184831360-184831361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202086619	chr2:184831396-184831397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531251275	chr2:184831493-184831494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547736025	chr2:184831495-184831496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567954715	chr2:184831497-184831498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536509335	chr2:184831499-184831500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547193135	chr2:184831518-184831519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188809611	chr2:184831522-184831523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539219460	chr2:184831589-184831590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559134741	chr2:184831609-184831610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575805572	chr2:184831671-184831672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538248328	chr2:184831683-184831684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562884024	chr2:184831730-184831731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78296002	chr2:184831803-184831804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192038094	chr2:184831818-184831819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540130821	chr2:184831836-184831837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560377238	chr2:184831837-184831838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576664817	chr2:184831843-184831844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77380037	chr2:184831847-184831848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562243725	chr2:184831909-184831910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183393991	chr2:184831954-184831955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187643915	chr2:184831957-184831958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561497430	chr2:184831974-184831975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138631480	chr2:184831975-184831976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184830600-184832600	Weak transcription	Pancreas	Pancrea
2	chr2:184832600-184832800	Enhancers	Pancreas	Pancrea
3	chr2:184849600-184850000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:184851200-184860400	Weak transcription	Fetal Heart	heart
5	chr2:184855200-184856200	Active TSS	GM12878-XiMat	blood
6	chr2:184856200-184857600	Enhancers	GM12878-XiMat	blood
7	chr2:184856400-184858200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:184857000-184858400	Enhancers	Hela-S3	cervix
9	chr2:184857200-184858200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:184857400-184857800	Enhancers	HMEC	breast
11	chr2:184857600-184858000	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:184857600-184858800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:184857800-184858200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:184857800-184858400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:184858000-184858600	Enhancers	Pancreas	Pancrea
16	chr2:184858000-184862800	Enhancers	GM12878-XiMat	blood
17	chr2:184858200-184858400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:184858200-184861800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:184858200-184862800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:184858400-184860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:184858400-184860600	Weak transcription	Hela-S3	cervix
22	chr2:184858400-184861800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:184858600-184862400	Weak transcription	Pancreas	Pancrea
24	chr2:184858800-184860400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:184859200-184859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:184859400-184860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:184859400-184861000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:184859600-184860800	Enhancers	NH-A	brain
29	chr2:184859600-184862400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:184859600-184862600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:184860000-184863000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:184860400-184860600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:184860400-184860600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:184860400-184860600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:184860400-184860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:184860400-184860800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:184860400-184860800	Enhancers	Fetal Kidney	kidney
38	chr2:184860400-184860800	Enhancers	Fetal Lung	lung
39	chr2:184860400-184861200	Enhancers	Colon Smooth Muscle	Colon
40	chr2:184860400-184861200	Enhancers	Fetal Heart	heart
41	chr2:184860400-184862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:184860400-184862600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:184860400-184863200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:184860600-184860800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:184860600-184861200	Enhancers	Hela-S3	cervix
47	chr2:184860600-184861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:184860600-184863800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:184860800-184861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:184860800-184861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links