Variant report

Variant	nsv834484
Chromosome Location	chr2:185550006-185762728
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185692719..185694958-chr2:185715140..185717757,2	K562	blood:
2	chr2:185617771..185620503-chr2:185623479..185625081,2	K562	blood:
3	chr2:185692719..185694958-chr2:185715140..185717757,2	K562	blood:
4	chr2:185702239..185704050-chr2:185710526..185712364,2	K562	blood:
5	chr2:185578595..185580514-chr2:185586410..185588900,2	MCF-7	breast:
6	chr2:185569754..185571937-chr2:185579552..185581214,2	K562	blood:
7	chr15:52966884..52967402-chr2:185577216..185577716,2	MCF-7	breast:
8	chr2:185569754..185571937-chr2:185579552..185581214,2	K562	blood:
9	chr2:185578595..185580514-chr2:185586410..185588900,2	MCF-7	breast:
10	chr2:185467312..185469833-chr2:185669598..185671481,2	K562	blood:
11	chr2:185670345..185672598-chr2:185676418..185678861,2	K562	blood:
12	chr2:185617771..185620503-chr2:185623479..185625081,2	K562	blood:
13	chr2:185702239..185704050-chr2:185710526..185712364,2	K562	blood:
14	chr2:185670345..185672598-chr2:185676418..185678861,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCKAP1-6	chr2:185739823-185739835	l_2004_chr2:185710179-185739835_testes
2	lnc-NCKAP1-6	chr2:185710180-185710496	l_2004_chr2:185710179-185739835_testes

No data

Extended variants
information (count: 2794 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2794 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191943871	chr2:185550008-185550009	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373279520	chr2:185550055-185550056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545800792	chr2:185550076-185550077	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6718759	chr2:185550104-185550105	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368964465	chr2:185550109-185550110	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376283758	chr2:185550110-185550111	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147621846	chr2:185550152-185550153	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371121183	chr2:185550188-185550189	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76706177	chr2:185550243-185550244	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112990204	chr2:185550412-185550413	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142151696	chr2:185550413-185550414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55782979	chr2:185550441-185550442	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529409802	chr2:185550449-185550450	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567241727	chr2:185550454-185550455	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537587506	chr2:185550456-185550457	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181025219	chr2:185550462-185550463	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78880814	chr2:185550465-185550466	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571141246	chr2:185550486-185550487	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559717485	chr2:185550534-185550535	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146238580	chr2:185550564-185550565	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538410635	chr2:185550605-185550606	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs72899975	chr2:185550610-185550611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571961926	chr2:185550657-185550658	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138923165	chr2:185550667-185550668	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554712668	chr2:185550684-185550685	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141391485	chr2:185550750-185550751	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543588505	chr2:185550757-185550758	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72899976	chr2:185550807-185550808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532777406	chr2:185550808-185550809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150405973	chr2:185550820-185550821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560095387	chr2:185550827-185550828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138124326	chr2:185550873-185550874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376779602	chr2:185550955-185550956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149594887	chr2:185550989-185550990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567176793	chr2:185550994-185550995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531319424	chr2:185551019-185551020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549405703	chr2:185551024-185551025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549625048	chr2:185551087-185551088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184898560	chr2:185551101-185551102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538449420	chr2:185551132-185551133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369723670	chr2:185551162-185551163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553591348	chr2:185551168-185551169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568106535	chr2:185551194-185551195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535203483	chr2:185551199-185551200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370038327	chr2:185551206-185551207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139909434	chr2:185551207-185551208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190150674	chr2:185551222-185551223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79576835	chr2:185551232-185551233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547542114	chr2:185551358-185551359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543774388	chr2:185551373-185551374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185544200-185550600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:185545200-185557000	Weak transcription	Fetal Stomach	stomach
3	chr2:185545800-185552200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:185546000-185550600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:185548600-185552200	Enhancers	NHEK	skin
6	chr2:185549000-185551000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:185549200-185550600	Weak transcription	HMEC	breast
8	chr2:185550000-185550800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:185550200-185552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:185550400-185551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:185550600-185551000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:185550600-185551000	Enhancers	HMEC	breast
13	chr2:185550600-185551200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:185551000-185551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:185556600-185557400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:185556800-185557000	Active TSS	Fetal Brain Female	brain
17	chr2:185556800-185557200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:185556800-185557200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:185556800-185557400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:185556800-185557400	Enhancers	Brain Germinal Matrix	brain
21	chr2:185556800-185557400	Enhancers	Fetal Brain Male	brain
22	chr2:185557000-185557200	Flanking Active TSS	Fetal Brain Female	brain
23	chr2:185557000-185557400	Enhancers	Fetal Stomach	stomach
24	chr2:185557000-185557400	Enhancers	NHLF	lung
25	chr2:185557200-185558200	Enhancers	Fetal Brain Female	brain
26	chr2:185563200-185564200	Enhancers	Brain Germinal Matrix	brain
27	chr2:185563800-185564200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:185583400-185584000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:185583400-185584000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr2:185592400-185592800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:185592400-185593200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:185592600-185593400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:185592800-185593000	Enhancers	Fetal Brain Male	brain
34	chr2:185593200-185601400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:185593600-185593800	Enhancers	Fetal Brain Male	brain
36	chr2:185598000-185599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:185598200-185599600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:185598800-185599600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:185598800-185599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:185598800-185599800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:185599000-185599800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:185599000-185600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:185599600-185600400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:185600400-185600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:185600400-185600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:185615800-185621400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:185619800-185620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:185621200-185622800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:185621400-185621800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:185621400-185622200	Enhancers	Muscle Satellite Cultured Cells	--

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