Variant report

Variant	nsv899545
Chromosome Location	chr12:118316834-118367000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:118328291-118328399	GM12878	blood:	n/a	n/a
2	BRCA1	chr12:118325690-118325735	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:118334786-118334919	GM12878	blood:	n/a	n/a
4	CBX3	chr12:118337599-118338053	HCT-116	colon:	n/a	n/a
5	CEBPB	chr12:118328517-118328773	A549	lung:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
6	CEBPB	chr12:118328497-118328758	Hela-S3	cervix:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
7	CEBPB	chr12:118338299-118338503	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:118365700-118365728	IMR90	lung:	n/a	n/a
9	CEBPB	chr12:118328439-118328835	IMR90	lung:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
10	CEBPB	chr12:118328493-118328869	MCF-7	breast:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
11	CEBPB	chr12:118319349-118319584	HepG2	liver:	n/a	chr12:118319489-118319500
12	CEBPB	chr12:118338419-118338671	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:118328530-118328719	H1-hESC	embryonic stem cell:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
14	CEBPB	chr12:118337937-118338184	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:118337979-118338607	A549	lung:	n/a	n/a
16	CEBPB	chr12:118328495-118328771	K562	blood:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
17	CEBPB	chr12:118328483-118328796	HepG2	liver:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
18	CEBPB	chr12:118328460-118328849	A549	lung:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
19	CEBPB	chr12:118328398-118328863	A549	lung:	n/a	chr12:118328677-118328690 chr12:118328677-118328688 chr12:118328575-118328592
20	CHD2	chr12:118335482-118335936	GM12878	blood:	n/a	n/a
21	CREB1	chr12:118344995-118345270	A549	lung:	n/a	n/a
22	CTCF	chr12:118328058-118328215	HepG2	liver:	n/a	n/a
23	CTCF	chr12:118344917-118345337	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:118319880-118320030	HepG2	liver:	n/a	n/a
25	CTCF	chr12:118319926-118320033	GM19239	blood:	n/a	n/a
26	CTCF	chr12:118328085-118328215	NHEK	skin:	n/a	n/a
27	CTCF	chr12:118327940-118328090	WI-38	lung:	n/a	n/a
28	CTCF	chr12:118328040-118328190	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:118328052-118328216	K562	blood:	n/a	n/a
30	CTCF	chr12:118328080-118328230	GM12868	blood:	n/a	n/a
31	CTCF	chr12:118328080-118328230	GM12873	blood:	n/a	n/a
32	CTCF	chr12:118345080-118345230	Caco-2	colon:	n/a	n/a
33	CTCF	chr12:118328100-118328250	BJ	skin:	n/a	n/a
34	CTCF	chr12:118328160-118328310	NHEK	skin:	n/a	n/a
35	CTCF	chr12:118328020-118328170	A549	lung:	n/a	n/a
36	CTCF	chr12:118328160-118328310	SAEC	small airway:	n/a	n/a
37	CTCF	chr12:118320040-118320190	GM12873	blood:	n/a	n/a
38	CTCF	chr12:118328040-118328190	GM12873	blood:	n/a	n/a
39	CTCF	chr12:118319900-118320050	HEK293	kidney:	n/a	n/a
40	CTCF	chr12:118328060-118328210	AG09309	skin:	n/a	n/a
41	CTCF	chr12:118327843-118328589	A549	lung:	n/a	n/a
42	CTCF	chr12:118328060-118328210	GM12875	blood:	n/a	n/a
43	CTCF	chr12:118328092-118328230	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:118328020-118328170	GM12865	blood:	n/a	n/a
45	CTCF	chr12:118345000-118345150	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr12:118345040-118345190	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:118328060-118328210	BE2_C	brain:	n/a	n/a
48	CTCF	chr12:118328079-118328216	Fibrobl	skin:	n/a	n/a
49	CTCF	chr12:118345064-118345147	K562	blood:	n/a	n/a
50	CTCF	chr12:118328020-118328170	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118348276..118350671-chr12:118353573..118355252,2	MCF-7	breast:
2	chr12:118318014..118319874-chr12:118321397..118323243,2	K562	blood:
3	chr12:118355562..118357580-chr12:118473095..118476082,2	MCF-7	breast:
4	chr12:118343679..118345763-chr17:56738592..56741444,2	MCF-7	breast:
5	chr12:118312832..118315232-chr12:118316159..118318319,2	K562	blood:
6	chr12:118318924..118320830-chr12:118405525..118407197,2	MCF-7	breast:
7	chr12:118359995..118361620-chr12:118405012..118407163,2	MCF-7	breast:
8	chr12:118355680..118357728-chr12:118406926..118408783,2	MCF-7	breast:
9	chr12:118327706..118328302-chr12:118406634..118407259,2	MCF-7	breast:
10	chr12:118307598..118309595-chr12:118315328..118317496,2	MCF-7	breast:
11	chr12:118348276..118350671-chr12:118353573..118355252,2	MCF-7	breast:
12	chr12:118321239..118322907-chr12:118502124..118504651,2	MCF-7	breast:
13	chr12:118341031..118343541-chr12:118405956..118408713,2	MCF-7	breast:
14	chr12:118327985..118328640-chr12:118472672..118473255,2	MCF-7	breast:
15	chr12:118339558..118342528-chr12:118404819..118407102,3	MCF-7	breast:
16	chr12:118318014..118319874-chr12:118321397..118323243,2	K562	blood:
17	chr12:118316739..118318281-chr12:118453136..118454752,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFC5-1	chr12:118328551-118328813	ENSG00000256071.1
2	lnc-RFC5-1	chr12:118327259-118327543	ENSG00000256071.1

Variant related genes	Relation type
ENSG00000256071	TF binding region
ENSG00000266826	chromatin interactions
ENSG00000171435	chromatin interactions
ENSG00000111445	chromatin interactions

Extended variants
information (count: 1045 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1045 , 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	rs10850917	chr12:118316834-118316835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191008398	chr12:118316889-118316890	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556393696	chr12:118316981-118316982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576361082	chr12:118317032-118317033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149202519	chr12:118317268-118317269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376560861	chr12:118317280-118317281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12815793	chr12:118317283-118317284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12810800	chr12:118317294-118317295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12810801	chr12:118317295-118317296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143288665	chr12:118317308-118317309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550547508	chr12:118317397-118317398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540302525	chr12:118317420-118317421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148332838	chr12:118317469-118317470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529394247	chr12:118317474-118317475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542766237	chr12:118317643-118317644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535996124	chr12:118317648-118317649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377377716	chr12:118317710-118317711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1374250	chr12:118317718-118317719	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531851042	chr12:118317749-118317750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146308545	chr12:118317770-118317771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182721788	chr12:118317784-118317785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376208205	chr12:118317799-118317800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527265603	chr12:118317805-118317806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547120888	chr12:118317835-118317836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138103742	chr12:118317838-118317839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536360144	chr12:118317876-118317877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549965605	chr12:118317892-118317893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369490807	chr12:118317903-118317904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188981500	chr12:118317905-118317906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75563965	chr12:118317906-118317907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193127875	chr12:118317915-118317916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373596524	chr12:118317935-118317936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373909638	chr12:118317939-118317940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374376423	chr12:118317955-118317956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566448517	chr12:118317973-118317974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116914986	chr12:118317991-118317992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7966633	chr12:118318015-118318016	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534194471	chr12:118318053-118318054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549649950	chr12:118318143-118318144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114775706	chr12:118318148-118318149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573757460	chr12:118318181-118318182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542729472	chr12:118318187-118318188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576436821	chr12:118318229-118318230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375689913	chr12:118318235-118318236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562715381	chr12:118318245-118318246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs386766810	chr12:118318246-118318247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545309074	chr12:118318248-118318249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544790812	chr12:118318270-118318271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10850919	chr12:118318283-118318284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528025434	chr12:118318303-118318304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118314200-118319400	Weak transcription	Brain Anterior Caudate	brain
2	chr12:118316400-118317000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:118316800-118317000	Enhancers	Brain Hippocampus Middle	brain
4	chr12:118319200-118319800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:118319400-118320600	Enhancers	Brain Anterior Caudate	brain
6	chr12:118319800-118320200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:118319800-118320200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:118319800-118320200	Enhancers	NHEK	skin
9	chr12:118319800-118320400	Enhancers	HMEC	breast
10	chr12:118322400-118323000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:118325000-118328200	Enhancers	GM12878-XiMat	blood
12	chr12:118326600-118327000	Enhancers	Primary B cells from cord blood	blood
13	chr12:118326800-118327400	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:118328000-118328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:118328000-118328600	Enhancers	Adipose Nuclei	Adipose
16	chr12:118328200-118328600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:118334600-118334800	Enhancers	GM12878-XiMat	blood
18	chr12:118334600-118335200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:118334800-118335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:118334800-118335200	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:118334800-118335400	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:118334800-118335800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:118335000-118335600	Enhancers	Primary B cells from cord blood	blood
24	chr12:118335200-118335600	Enhancers	GM12878-XiMat	blood
25	chr12:118335200-118341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:118335600-118336000	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:118338200-118338800	Enhancers	A549	lung
28	chr12:118338800-118339000	Enhancers	Pancreas	Pancrea
29	chr12:118339000-118344600	Weak transcription	Pancreas	Pancrea
30	chr12:118340400-118345000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:118341400-118341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:118344600-118345000	Enhancers	Pancreas	Pancrea
33	chr12:118344600-118346400	Weak transcription	A549	lung
34	chr12:118344800-118345400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:118344800-118345600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:118345000-118345400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:118345000-118345400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:118345000-118345400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:118345000-118345400	Enhancers	Esophagus	oesophagus
40	chr12:118345000-118345400	Enhancers	Gastric	stomach
41	chr12:118345000-118345400	Flanking Active TSS	Pancreas	Pancrea
42	chr12:118345200-118345400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:118345200-118345400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:118345200-118345600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:118345600-118348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:118346400-118346600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:118346400-118347000	Enhancers	A549	lung
48	chr12:118348600-118348800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:118348800-118349400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:118349400-118351200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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