Variant report

Variant	nsv875382
Chromosome Location	chr2:169792484-169819824
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:
2	chr2:169818313..169818917-chr2:170078254..170079024,2	MCF-7	breast:
3	chr2:169804921..169805756-chr2:170253961..170254734,2	MCF-7	breast:
4	chr2:169817863..169818829-chr2:169997380..169999266,9	K562	blood:
5	chr2:169786046..169790721-chr2:169791105..169793269,7	K562	blood:
6	chr2:169818298..169818897-chr2:169965742..169966875,4	K562	blood:
7	chr2:161488018..161488821-chr2:169795050..169795992,2	MCF-7	breast:
8	chr2:169797130..169797902-chr4:70311918..70312713,2	MCF-7	breast:
9	chr2:169791653..169794074-chr2:169983204..169985929,2	K562	blood:
10	chr2:169790519..169792634-chr2:169793983..169795668,2	K562	blood:
11	chr2:169814051..169816137-chr2:169816733..169819588,2	MCF-7	breast:
12	chr2:169817883..169818504-chr2:169965996..169966724,2	MCF-7	breast:
13	chr2:169817863..169818742-chr2:170078413..170079041,3	K562	blood:
14	chr2:169818061..169818745-chr2:170078037..170078977,2	MCF-7	breast:
15	chr2:169817853..169818805-chr2:169987476..169989129,6	K562	blood:
16	chr2:169792449..169795110-chr2:169797440..169799933,3	K562	blood:
17	chr2:169790519..169792634-chr2:169793983..169795668,2	K562	blood:
18	chr2:169628746..169631542-chr2:169795260..169797198,2	K562	blood:
19	chr2:169814051..169816137-chr2:169816733..169819588,2	MCF-7	breast:
20	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:
21	chr2:169792537..169795729-chr2:169800668..169803473,3	K562	blood:
22	chr2:169817898..169818621-chr2:169988130..169988983,4	MCF-7	breast:
23	chr2:169630102..169630887-chr2:169804877..169805660,3	MCF-7	breast:
24	chr2:169817359..169819675-chr2:169839586..169842251,2	K562	blood:
25	chr2:169792537..169795729-chr2:169800668..169803473,3	K562	blood:
26	chr2:169816630..169819073-chr2:169825664..169828011,2	K562	blood:
27	chr2:169792449..169795110-chr2:169797440..169799933,3	K562	blood:
28	chr2:169817874..169818883-chr2:169988110..169989002,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073734	chromatin interactions

Extended variants
information (count: 1016 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1016 , 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	rs4148803	chr2:169792484-169792485	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150329586	chr2:169792487-169792488	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559516907	chr2:169792489-169792490	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182767307	chr2:169792506-169792507	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137997848	chr2:169792523-169792524	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568684864	chr2:169792532-169792533	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115427035	chr2:169792559-169792560	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550663972	chr2:169792614-169792615	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568262690	chr2:169792632-169792633	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112608352	chr2:169792658-169792659	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187097404	chr2:169792673-169792674	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553546995	chr2:169792711-169792712	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573061916	chr2:169792714-169792715	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374259062	chr2:169792728-169792729	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368580108	chr2:169792733-169792734	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192375476	chr2:169792743-169792744	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200488448	chr2:169792771-169792772	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72549400	chr2:169792778-169792779	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199514789	chr2:169792786-169792787	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374465656	chr2:169792797-169792798	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367731325	chr2:169792836-169792837	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563877465	chr2:169792850-169792851	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371263629	chr2:169792854-169792855	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555007072	chr2:169792884-169792885	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200127070	chr2:169792926-169792927	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184334834	chr2:169792934-169792935	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559849564	chr2:169792937-169792938	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528640585	chr2:169792938-169792939	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368038490	chr2:169792947-169792948	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372563917	chr2:169792967-169792968	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11568379	chr2:169792968-169792969	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369480768	chr2:169792986-169792987	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111318289	chr2:169792994-169792995	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377089992	chr2:169793015-169793016	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551305185	chr2:169793050-169793051	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144807056	chr2:169793093-169793094	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536719738	chr2:169793126-169793127	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539876933	chr2:169793213-169793214	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547093614	chr2:169793299-169793300	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533626386	chr2:169793399-169793400	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138476765	chr2:169793408-169793409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535972359	chr2:169793411-169793412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573263644	chr2:169793428-169793429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576946594	chr2:169793556-169793557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143064069	chr2:169793558-169793559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368299426	chr2:169793602-169793603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375499032	chr2:169793643-169793644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537744730	chr2:169793647-169793648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368509796	chr2:169793669-169793670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7568243	chr2:169793703-169793704	Weak transcription Strong 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
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
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Breast cancer	22522925	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169788200-169802600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:169789400-169795200	Strong transcription	Liver	Liver
3	chr2:169790800-169792800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:169791200-169793000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:169791400-169792600	Enhancers	Osteobl	bone
6	chr2:169791600-169792600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:169791600-169792800	Enhancers	Adipose Nuclei	Adipose
8	chr2:169791600-169793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:169791600-169793000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:169791600-169793000	Enhancers	HMEC	breast
11	chr2:169791600-169793400	Flanking Active TSS	K562	blood
12	chr2:169791800-169792600	Weak transcription	NHDF-Ad	bronchial
13	chr2:169791800-169793000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:169792200-169792800	Enhancers	HSMM	muscle
15	chr2:169792200-169793000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:169792200-169793000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:169792200-169793600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:169792400-169792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:169792600-169792800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:169792600-169793000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:169792600-169793000	Flanking Active TSS	Osteobl	bone
22	chr2:169792800-169793000	Enhancers	NHDF-Ad	bronchial
23	chr2:169792800-169793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:169792800-169794800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:169793000-169793200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:169793000-169794200	Weak transcription	Osteobl	bone
27	chr2:169793000-169794400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:169793400-169794800	Enhancers	K562	blood
29	chr2:169793600-169799800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:169794200-169795000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:169794200-169795000	Enhancers	Osteobl	bone
32	chr2:169794400-169795000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:169794800-169795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:169794800-169796400	Weak transcription	K562	blood
35	chr2:169795200-169796000	Weak transcription	Liver	Liver
36	chr2:169796000-169801000	Strong transcription	Liver	Liver
37	chr2:169796400-169797800	Enhancers	K562	blood
38	chr2:169797200-169798600	Enhancers	Fetal Heart	heart
39	chr2:169797800-169798200	Flanking Active TSS	K562	blood
40	chr2:169798200-169798400	Enhancers	K562	blood
41	chr2:169798400-169800000	Weak transcription	K562	blood
42	chr2:169798600-169799600	Weak transcription	Fetal Heart	heart
43	chr2:169799600-169800200	Enhancers	Fetal Heart	heart
44	chr2:169799800-169801200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:169800000-169801200	Enhancers	K562	blood
46	chr2:169801000-169802000	Genic enhancers	Liver	Liver
47	chr2:169802000-169802600	Weak transcription	Liver	Liver
48	chr2:169802600-169803600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:169802600-169818000	Strong transcription	Liver	Liver
50	chr2:169804200-169804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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