Variant report

Variant	nsv979327
Chromosome Location	chr2:32532575-32554303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:325)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:32554120-32554721	HepG2	liver:	n/a	n/a
2	BCL3	chr2:32554122-32554645	A549	lung:	n/a	n/a
3	BHLHE40	chr2:32554212-32554601	HepG2	liver:	n/a	n/a
4	CBX3	chr2:32551523-32551880	K562	blood:	n/a	n/a
5	CEBPB	chr2:32551598-32551933	MCF-7	breast:	n/a	chr2:32551669-32551680
6	CEBPB	chr2:32551559-32551858	Hela-S3	cervix:	n/a	chr2:32551669-32551680
7	CEBPB	chr2:32554185-32554635	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:32551511-32551862	HepG2	liver:	n/a	chr2:32551669-32551680
9	CEBPB	chr2:32554158-32554626	A549	lung:	n/a	n/a
10	CEBPB	chr2:32551586-32551748	HepG2	liver:	n/a	chr2:32551669-32551680
11	CEBPB	chr2:32551527-32551866	A549	lung:	n/a	chr2:32551669-32551680
12	CEBPB	chr2:32534711-32534885	K562	blood:	n/a	chr2:32534813-32534824
13	CEBPB	chr2:32534724-32534888	H1-hESC	embryonic stem cell:	n/a	chr2:32534813-32534824
14	CEBPB	chr2:32534700-32534923	A549	lung:	n/a	chr2:32534813-32534824
15	CEBPB	chr2:32551571-32551844	K562	blood:	n/a	chr2:32551669-32551680
16	CEBPB	chr2:32554233-32554632	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:32554225-32554643	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:32534788-32534871	HepG2	liver:	n/a	chr2:32534813-32534824
19	CEBPB	chr2:32551584-32551983	MCF-7	breast:	n/a	chr2:32551669-32551680
20	CHD2	chr2:32554224-32554575	HepG2	liver:	n/a	n/a
21	CTCF	chr2:32551620-32551770	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr2:32551680-32551830	AG10803	skin:	n/a	n/a
23	CTCF	chr2:32547000-32547150	HepG2	liver:	n/a	n/a
24	CTCF	chr2:32551620-32551770	BE2_C	brain:	n/a	n/a
25	CTCF	chr2:32551606-32551791	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:32551680-32551830	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr2:32551660-32551810	HRE	kidney:	n/a	n/a
28	CTCF	chr2:32551660-32551810	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr2:32551660-32551810	AG04449	skin:	n/a	n/a
30	CTCF	chr2:32551680-32551830	AG04449	skin:	n/a	n/a
31	CTCF	chr2:32535818-32535898	Fibrobl	skin:	n/a	n/a
32	CTCF	chr2:32551636-32551805	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr2:32551608-32551817	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr2:32551700-32551850	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:32551660-32551810	HAc	cerebellar:	n/a	n/a
36	CTCF	chr2:32551660-32551810	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr2:32551700-32551850	RPTEC	kidney:	n/a	n/a
38	CTCF	chr2:32551680-32551830	Caco-2	colon:	n/a	n/a
39	CTCF	chr2:32551700-32551850	GM12864	blood:	n/a	n/a
40	CTCF	chr2:32551657-32551814	ProgFib	skin:	n/a	n/a
41	CTCF	chr2:32551700-32551850	AG09319	gingival:	n/a	n/a
42	CTCF	chr2:32551740-32551890	AG04450	lung:	n/a	n/a
43	CTCF	chr2:32551640-32551790	HEK293	kidney:	n/a	n/a
44	CTCF	chr2:32551680-32551830	HPF	lung:	n/a	n/a
45	CTCF	chr2:32551606-32551857	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:32551660-32551810	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr2:32551680-32551830	HepG2	liver:	n/a	n/a
48	CTCF	chr2:32551620-32551770	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:32551680-32551830	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr2:32551646-32551812	NHEK	skin:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32548238..32549748-chr2:32550236..32552795,2	MCF-7	breast:
2	chr2:32530589..32533146-chr2:32542840..32545363,2	K562	blood:
3	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:
4	chr2:32553694..32556476-chr2:32560953..32563581,2	K562	blood:
5	chr2:32533026..32534673-chr2:32537279..32539306,2	K562	blood:
6	chr2:32536114..32538190-chr2:32545833..32547499,2	MCF-7	breast:
7	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:
8	chr2:32531197..32533146-chr2:32542840..32545023,2	K562	blood:
9	chr2:32514023..32515900-chr2:32531740..32534378,2	K562	blood:
10	chr2:32544247..32546044-chr2:32581578..32583162,2	K562	blood:
11	chr2:32539415..32541287-chr2:32546582..32548508,2	K562	blood:
12	chr2:32530589..32533146-chr2:32542840..32545363,2	K562	blood:
13	chr2:32548238..32549748-chr2:32550236..32552795,2	MCF-7	breast:
14	chr2:32531197..32533146-chr2:32542840..32545023,2	K562	blood:
15	chr2:32546989..32549811-chr2:32581410..32583640,2	MCF-7	breast:
16	chr2:32541934..32543655-chr2:32545170..32547115,2	MCF-7	breast:
17	chr2:32501694..32504446-chr2:32547424..32550078,2	MCF-7	breast:
18	chr2:32533026..32534673-chr2:32537279..32539306,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YIPF4-1	chr2:32534100-32537281	XLOC_001417
2	lnc-YIPF4-1	chr2:32538713-32538803	XLOC_001417

No data

Variant related genes	Relation type
ENSG00000272754	TF binding region
ENSG00000272754	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000115760	chromatin interactions
SYMPK	miRNA target sites
KRAS	miRNA target sites

Extended variants
information (count: 917 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116171455	chr2:32532605-32532606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186958895	chr2:32532636-32532637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571354809	chr2:32532774-32532775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1137922	chr2:32532809-32532810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533919908	chr2:32532812-32532813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1137924	chr2:32532834-32532835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1137925	chr2:32532845-32532846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191707042	chr2:32532852-32532853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59285069	chr2:32532855-32532856	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535885693	chr2:32532888-32532889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556789195	chr2:32532922-32532923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576333142	chr2:32532948-32532949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556584701	chr2:32532982-32532983	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545158860	chr2:32532989-32532990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62134049	chr2:32532995-32532996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576364551	chr2:32532998-32532999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558768707	chr2:32533009-32533010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572207863	chr2:32533010-32533011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541545349	chr2:32533012-32533013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70938335	chr2:32533023-32533024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561238891	chr2:32533026-32533027	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530074253	chr2:32533072-32533073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543453971	chr2:32533098-32533099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562730382	chr2:32533122-32533123	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531675684	chr2:32533164-32533165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551597521	chr2:32533180-32533181	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374328872	chr2:32533195-32533196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565103700	chr2:32533211-32533212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527380581	chr2:32533230-32533231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551537704	chr2:32533236-32533237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547434930	chr2:32533237-32533238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567272673	chr2:32533282-32533283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536198512	chr2:32533324-32533325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13034684	chr2:32533362-32533363	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549376940	chr2:32533411-32533412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570006263	chr2:32533424-32533425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538995276	chr2:32533445-32533446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558707394	chr2:32533446-32533447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572341650	chr2:32533448-32533449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1153122	chr2:32533457-32533458	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554998990	chr2:32533495-32533496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371185985	chr2:32533507-32533508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183995359	chr2:32533516-32533517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530173969	chr2:32533521-32533522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373717458	chr2:32533548-32533549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563717490	chr2:32533565-32533566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576381594	chr2:32533575-32533576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144768480	chr2:32533678-32533679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565193598	chr2:32533704-32533705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537978330	chr2:32533721-32533722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
4	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
5	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
8	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
9	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:32515000-32533400	Weak transcription	NHLF	lung
11	chr2:32515400-32538800	Weak transcription	NHEK	skin
12	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
15	chr2:32519200-32533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:32520200-32533000	Strong transcription	Fetal Thymus	thymus
17	chr2:32520200-32533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:32520800-32532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:32520800-32533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:32521000-32532800	Strong transcription	Placenta	Placenta
25	chr2:32521000-32535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:32521000-32554600	Weak transcription	Ovary	ovary
27	chr2:32521200-32533600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:32521600-32532800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
30	chr2:32522200-32533400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:32522800-32533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:32523200-32533600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:32523400-32547200	Weak transcription	NH-A	brain
34	chr2:32524200-32532600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:32524200-32532800	Strong transcription	Fetal Intestine Large	intestine
36	chr2:32524400-32533000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:32524600-32532800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:32525000-32537400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:32525200-32532600	Strong transcription	HepG2	liver
40	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:32526200-32533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:32526600-32533800	Weak transcription	K562	blood
43	chr2:32526600-32534200	Weak transcription	HUVEC	blood vessel
44	chr2:32526600-32536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:32526600-32537000	Weak transcription	HMEC	breast
46	chr2:32526600-32541800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:32526800-32548600	Weak transcription	Fetal Brain Female	brain
48	chr2:32527600-32532800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:32527800-32532800	Strong transcription	Primary B cells from cord blood	blood
50	chr2:32527800-32532800	Strong transcription	Hela-S3	cervix

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