Variant report

Variant	nsv873637
Chromosome Location	chr2:10349858-10381434
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:10261164..10264100-chr2:10354811..10357057,2	K562	blood:
2	chr2:10260780..10262972-chr2:10358625..10360506,2	K562	blood:
3	chr2:10347436..10349144-chr2:10352466..10354903,2	K562	blood:
4	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
5	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:
6	chr2:10378618..10381551-chr2:10586923..10589495,3	K562	blood:
7	chr2:10277738..10279513-chr2:10379719..10382264,2	K562	blood:
8	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
9	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
10	chr2:10381249..10383856-chr2:10384765..10387330,3	MCF-7	breast:
11	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
12	chr2:10379794..10381312-chr2:10548728..10550420,2	K562	blood:
13	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:
14	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
15	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
16	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
17	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:
18	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
19	chr2:10273672..10275632-chr2:10379805..10383115,3	K562	blood:
20	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
21	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
22	chr2:10367671..10369522-chr2:10589318..10591313,2	K562	blood:
23	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
24	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
25	chr2:10347644..10349586-chr2:10352760..10354903,2	K562	blood:
26	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
27	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
28	chr2:10366036..10368819-chr2:10586040..10588858,2	K562	blood:
29	chr2:10363646..10365657-chr2:10382522..10385441,2	K562	blood:
30	chr2:10332239..10334977-chr2:10351210..10352772,2	K562	blood:
31	chr2:10370836..10374601-chr2:10463376..10467418,3	K562	blood:
32	chr2:10344349..10346575-chr2:10349485..10351710,2	MCF-7	breast:
33	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
34	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
35	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
36	chr2:10261164..10264100-chr2:10354811..10357552,3	K562	blood:
37	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
38	chr2:10261461..10263883-chr2:10362075..10364211,2	MCF-7	breast:
39	chr2:10372926..10376124-chr2:10586887..10589530,3	K562	blood:
40	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
41	chr2:10347041..10349707-chr2:10357445..10360186,3	K562	blood:
42	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
43	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
44	chr2:10367576..10370568-chr2:10435265..10436937,2	MCF-7	breast:
45	chr2:10333815..10336556-chr2:10366578..10368507,2	MCF-7	breast:
46	chr2:10346566..10348332-chr2:10349003..10351471,2	K562	blood:
47	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
48	chr2:10380576..10383459-chr2:10443654..10445741,2	K562	blood:
49	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
50	chr2:10379912..10383317-chr2:10383321..10386920,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115756	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000206898	chromatin interactions
ENSG00000265418	chromatin interactions

Extended variants
information (count: 1544 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1544 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17267630	chr2:10349858-10349859	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188012941	chr2:10349898-10349899	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145710897	chr2:10349900-10349901	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538992717	chr2:10349922-10349923	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537973841	chr2:10349944-10349945	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192512557	chr2:10349972-10349973	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374286431	chr2:10349981-10349982	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568047544	chr2:10350002-10350003	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533688086	chr2:10350089-10350090	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573358876	chr2:10350190-10350191	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540488099	chr2:10350196-10350197	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74919388	chr2:10350201-10350202	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532672071	chr2:10350202-10350203	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544555083	chr2:10350208-10350209	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553885035	chr2:10350226-10350227	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530454875	chr2:10350261-10350262	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549038801	chr2:10350262-10350263	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116756839	chr2:10350294-10350295	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148944631	chr2:10350301-10350302	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546825624	chr2:10350304-10350305	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571520497	chr2:10350348-10350349	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571082807	chr2:10350381-10350382	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538931246	chr2:10350400-10350401	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377652385	chr2:10350405-10350406	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566499440	chr2:10350409-10350410	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147073091	chr2:10350414-10350415	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368120630	chr2:10350432-10350433	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569213228	chr2:10350438-10350439	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373844329	chr2:10350445-10350446	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536273835	chr2:10350452-10350453	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13406078	chr2:10350512-10350513	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376592690	chr2:10350513-10350514	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369677777	chr2:10350530-10350531	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573268318	chr2:10350559-10350560	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148091498	chr2:10350563-10350564	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369893846	chr2:10350568-10350569	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7423163	chr2:10350599-10350600	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370763653	chr2:10350617-10350618	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149374761	chr2:10350624-10350625	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556910395	chr2:10350625-10350626	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372624987	chr2:10350627-10350628	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377194625	chr2:10350631-10350632	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369984386	chr2:10350678-10350679	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111598217	chr2:10350679-10350680	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371577424	chr2:10350702-10350703	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367692769	chr2:10350706-10350707	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576618113	chr2:10350718-10350719	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562873202	chr2:10350728-10350729	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575150992	chr2:10350733-10350734	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112422362	chr2:10350736-10350737	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:10341800-10354400	Weak transcription	HepG2	liver
6	chr2:10343600-10360400	Weak transcription	HSMM	muscle
7	chr2:10345600-10350200	Weak transcription	Thymus	Thymus
8	chr2:10345600-10352800	Weak transcription	Fetal Thymus	thymus
9	chr2:10347400-10356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10348200-10350200	Enhancers	Brain Germinal Matrix	brain
11	chr2:10348200-10350800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:10349000-10351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:10349600-10350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10349800-10359400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
16	chr2:10350200-10351000	Strong transcription	Thymus	Thymus
17	chr2:10350200-10351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
19	chr2:10350600-10351000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:10350800-10351200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:10350800-10352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:10351000-10353600	Weak transcription	Thymus	Thymus
23	chr2:10351000-10354400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:10351200-10351800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:10351400-10353000	Weak transcription	Dnd41	blood
26	chr2:10351600-10351800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10351800-10354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10351800-10357400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:10352600-10356200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:10354400-10354600	Enhancers	HepG2	liver
31	chr2:10354400-10354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:10354400-10355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:10354600-10355000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:10354600-10355000	Bivalent Enhancer	HepG2	liver
35	chr2:10354800-10355000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:10354800-10355000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:10354800-10357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:10354800-10357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10355000-10357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10355000-10358200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:10355400-10357200	Enhancers	K562	blood
42	chr2:10356000-10356200	Enhancers	Stomach Mucosa	stomach
43	chr2:10356000-10358000	Enhancers	Fetal Brain Male	brain
44	chr2:10356200-10358000	Bivalent Enhancer	HepG2	liver
45	chr2:10356200-10358600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:10356400-10357600	Enhancers	Brain Germinal Matrix	brain
47	chr2:10356400-10358400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:10356400-10358800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:10356800-10357000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:10356800-10357600	Enhancers	Osteobl	bone

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