Variant report

Variant	nsv1003668
Chromosome Location	chr2:59523642-59592144
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:59559250..59562252-chr2:59565347..59568219,3	K562	blood:
2	chr2:59571355..59573359-chr2:59574425..59576887,2	K562	blood:
3	chr2:59571355..59573359-chr2:59574425..59576887,2	K562	blood:
4	chr2:59559250..59562252-chr2:59565347..59568219,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-3	chr2:59525350-59525442	ENSG00000233891.3
2	lnc-FANCL-3	chr2:59549393-59549453	ENSG00000233891.3

No data

Extended variants
information (count: 1663 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1663 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139985253	chr2:59523653-59523654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76165280	chr2:59523657-59523658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546131125	chr2:59523681-59523682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2160128	chr2:59523710-59523711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149661666	chr2:59523804-59523805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576328280	chr2:59523844-59523845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543571510	chr2:59523905-59523906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374186220	chr2:59523919-59523920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562075626	chr2:59523929-59523930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138299189	chr2:59523968-59523969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191764902	chr2:59523987-59523988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538306282	chr2:59523992-59523993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559313817	chr2:59523996-59523997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145441266	chr2:59523997-59523998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551679478	chr2:59524012-59524013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148830445	chr2:59524058-59524059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372605384	chr2:59524084-59524085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531045099	chr2:59524094-59524095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571704146	chr2:59524111-59524112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549530111	chr2:59524218-59524219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184535887	chr2:59524222-59524223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535522295	chr2:59524248-59524249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71420320	chr2:59524303-59524304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553545111	chr2:59524320-59524321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143475516	chr2:59524372-59524373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535055238	chr2:59524377-59524378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558101038	chr2:59524384-59524385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12622464	chr2:59524395-59524396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369139740	chr2:59524400-59524401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555534348	chr2:59524413-59524414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574092361	chr2:59524590-59524591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541517384	chr2:59524644-59524645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188901351	chr2:59524654-59524655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568541858	chr2:59524656-59524657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533171520	chr2:59524670-59524671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375966855	chr2:59524682-59524683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192565805	chr2:59524735-59524736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4633911	chr2:59524746-59524747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184794512	chr2:59524750-59524751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549351304	chr2:59524755-59524756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150960477	chr2:59524815-59524816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528633000	chr2:59524833-59524834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547539012	chr2:59524843-59524844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565748731	chr2:59524906-59524907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550264276	chr2:59524911-59524912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551375428	chr2:59524912-59524913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368768595	chr2:59524929-59524930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142531128	chr2:59525010-59525011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549971244	chr2:59525022-59525023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371776741	chr2:59525067-59525068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59522000-59524200	Enhancers	Fetal Heart	heart
2	chr2:59522200-59524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:59522400-59523800	Enhancers	Fetal Lung	lung
4	chr2:59522400-59525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:59523000-59523800	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:59523600-59523800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:59523600-59525400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:59523600-59528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:59523800-59528600	Weak transcription	Fetal Lung	lung
10	chr2:59523800-59528800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:59524000-59525000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:59524400-59525600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:59524600-59524800	Enhancers	Fetal Thymus	thymus
14	chr2:59524800-59535000	Weak transcription	Fetal Thymus	thymus
15	chr2:59525000-59525200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:59525000-59525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:59525200-59526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:59525200-59528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:59525400-59526200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:59525400-59526200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:59525400-59526400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:59525600-59526200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:59525800-59526400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:59525800-59527000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:59526000-59526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:59526000-59526400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:59526000-59526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:59526200-59526400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:59526200-59528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:59526400-59528400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:59526400-59528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:59526400-59528600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:59526400-59528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:59526400-59528800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:59526400-59529600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:59528400-59529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:59528400-59529200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:59528400-59529200	Enhancers	Brain Angular Gyrus	brain
39	chr2:59528400-59529600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:59528400-59529600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:59528600-59529000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:59528600-59529200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:59528600-59529200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:59528600-59529200	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:59528600-59529200	Enhancers	Fetal Lung	lung
46	chr2:59528600-59529200	Enhancers	Fetal Stomach	stomach
47	chr2:59528600-59529400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:59528600-59529600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:59528600-59529800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:59528600-59529800	Enhancers	Brain Germinal Matrix	brain

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