Variant report

Variant	nsv974006
Chromosome Location	chr12:86173654-86176914
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	CBX3	chr12:86176556-86176959	HCT-116	colon:	n/a	n/a
2	CTCF	chr12:86175600-86175750	SAEC	small airway:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
3	CTCF	chr12:86175683-86175710	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:86175640-86175790	HRPEpiC	eye:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
5	CTCF	chr12:86175600-86175750	NHDF-neo	bronchial:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
6	CTCF	chr12:86175625-86175767	MCF-7	breast:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
7	CTCF	chr12:86175600-86175750	HMF	breast:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
8	CTCF	chr12:86175670-86175715	HepG2	liver:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
9	CTCF	chr12:86175480-86175630	HMEC	breast:	n/a	n/a
10	CTCF	chr12:86175606-86175608	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:86175645-86175712	LNCaP	prostate:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
12	CTCF	chr12:86175640-86175790	HEEpiC	esophagus:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
13	CTCF	chr12:86175700-86175850	HMF	breast:	n/a	n/a
14	CTCF	chr12:86175640-86175790	HBMEC	blood vessel:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
15	CTCF	chr12:86175660-86175810	HBMEC	blood vessel:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
16	CTCF	chr12:86175584-86175770	HUVEC	blood vessel:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
17	CTCF	chr12:86175611-86175767	Hela-S3	cervix:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
18	CTCF	chr12:86175600-86175750	HMEC	breast:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
19	CTCF	chr12:86175580-86175730	SAEC	small airway:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
20	CTCF	chr12:86175657-86175729	Pancreas_OC	pancreas:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
21	CTCF	chr12:86175740-86175890	GM12873	blood:	n/a	n/a
22	CTCF	chr12:86173780-86173791	K562	blood:	n/a	n/a
23	CTCF	chr12:86175672-86175734	LNCaP	prostate:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
24	CTCF	chr12:86175580-86175730	HCPEpiC	choroid plexus:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
25	CTCF	chr12:86175600-86175750	WERI-Rb-1	eye:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
26	CTCF	chr12:86175580-86175730	MCF-7	breast:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
27	CTCF	chr12:86175648-86175729	GM13976	blood:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
28	CTCF	chr12:86175620-86175770	MCF-7	breast:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
29	CTCF	chr12:86175740-86175890	NHEK	skin:	n/a	n/a
30	CTCF	chr12:86175613-86175764	Medullo	brain:	n/a	chr12:86175677-86175695 chr12:86175679-86175692 chr12:86175672-86175693
31	EBF1	chr12:86176459-86176773	GM12878	blood:	n/a	chr12:86176618-86176627 chr12:86176617-86176628 chr12:86176617-86176627 chr12:86176616-86176629 chr12:86176618-86176627
32	FOSL1	chr12:86176463-86176973	HCT-116	colon:	n/a	chr12:86176675-86176684 chr12:86176677-86176688 chr12:86176679-86176686 chr12:86176882-86176892 chr12:86176674-86176685
33	FOSL1	chr12:86176441-86177038	HCT-116	colon:	n/a	chr12:86176675-86176684 chr12:86176677-86176688 chr12:86176679-86176686 chr12:86176882-86176892 chr12:86176674-86176685
34	FOXA1	chr12:86173634-86173816	T-47D	breast:	n/a	n/a
35	JUND	chr12:86176701-86176807	HepG2	liver:	n/a	n/a
36	JUND	chr12:86176397-86177050	HCT-116	colon:	n/a	chr12:86176675-86176684 chr12:86176677-86176688 chr12:86176679-86176686 chr12:86176882-86176892 chr12:86176674-86176685
37	JUND	chr12:86176454-86176978	HCT-116	colon:	n/a	chr12:86176675-86176684 chr12:86176677-86176688 chr12:86176679-86176686 chr12:86176882-86176892 chr12:86176674-86176685
38	JUND	chr12:86176486-86176833	Hela-S3	cervix:	n/a	chr12:86176675-86176684 chr12:86176677-86176688 chr12:86176679-86176686 chr12:86176674-86176685
39	MAX	chr12:86176559-86176757	Hela-S3	cervix:	n/a	chr12:86176676-86176685
40	MAZ	chr12:86176551-86176756	Hela-S3	cervix:	n/a	chr12:86176676-86176685
41	POLR2A	chr12:86176450-86176751	U87	brain:	n/a	n/a
42	RAD21	chr12:86175540-86175866	SK-N-SH_RA	brain:	n/a	chr12:86175675-86175694
43	RAD21	chr12:86175596-86175806	SK-N-SH_RA	brain:	n/a	chr12:86175675-86175694
44	RAD21	chr12:86175513-86175819	Hela-S3	cervix:	n/a	chr12:86175675-86175694
45	RAD21	chr12:86175412-86175885	HCT-116	colon:	n/a	chr12:86175675-86175694
46	RAD21	chr12:86176572-86176772	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr12:86176473-86176888	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr12:86175552-86175835	Hela-S3	cervix:	n/a	chr12:86175679-86175693
49	SP1	chr12:86176343-86177061	HCT-116	colon:	n/a	n/a
50	SP1	chr12:86176331-86177021	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86166852..86169171-chr12:86172826..86175025,3	K562	blood:
2	chr12:86166924..86169171-chr12:86172853..86175025,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASSF9-1	chr12:86175670-86176222	NONHSAT029756

Variant related genes	Relation type
ENSG00000258206	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559322374	chr12:86173690-86173691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533404679	chr12:86173737-86173738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111299821	chr12:86173747-86173748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191081366	chr12:86173782-86173783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11835132	chr12:86173790-86173791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183395684	chr12:86173817-86173818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140068708	chr12:86173846-86173847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570579821	chr12:86173888-86173889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534655497	chr12:86173905-86173906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187560194	chr12:86173949-86173950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74535271	chr12:86173999-86174000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535417618	chr12:86174045-86174046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149815902	chr12:86174050-86174051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575423060	chr12:86174075-86174076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12829764	chr12:86174137-86174138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61930643	chr12:86174158-86174159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558934331	chr12:86174170-86174171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75759514	chr12:86174171-86174172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61930644	chr12:86174176-86174177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12829938	chr12:86174213-86174214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59747492	chr12:86174235-86174236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551156226	chr12:86174244-86174245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12829972	chr12:86174249-86174250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs563301218	chr12:86174301-86174302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374872933	chr12:86174347-86174348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549604437	chr12:86174355-86174356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148573948	chr12:86174398-86174399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34388104	chr12:86174401-86174402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143179100	chr12:86174404-86174405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146663230	chr12:86174434-86174435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192805053	chr12:86174446-86174447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550323281	chr12:86174459-86174460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530792661	chr12:86174497-86174498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182209810	chr12:86174498-86174499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140314521	chr12:86174525-86174526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568208356	chr12:86174527-86174528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529163461	chr12:86174558-86174559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567851748	chr12:86174591-86174592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187564103	chr12:86174601-86174602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539201596	chr12:86174618-86174619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567130543	chr12:86174633-86174634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570984870	chr12:86174637-86174638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535244303	chr12:86174667-86174668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7975655	chr12:86174682-86174683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574799519	chr12:86174733-86174734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542071648	chr12:86174775-86174776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144031739	chr12:86174797-86174798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575222745	chr12:86174851-86174852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535547914	chr12:86174857-86174858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192560869	chr12:86174858-86174859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86170200-86179200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:86171800-86177000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:86172400-86174600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:86172600-86173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:86172600-86173800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:86172600-86174000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:86172600-86174200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:86172600-86174600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:86172800-86173800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr12:86172800-86174000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:86173000-86173800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:86173000-86174600	Weak transcription	Fetal Lung	lung
13	chr12:86173000-86176400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:86173600-86173800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:86173600-86173800	Enhancers	A549	lung
16	chr12:86173600-86177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:86173800-86176600	Weak transcription	A549	lung
18	chr12:86174000-86177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:86174000-86178000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:86174600-86174800	Enhancers	Fetal Lung	lung
21	chr12:86174800-86175600	Weak transcription	Fetal Lung	lung
22	chr12:86175200-86176000	Enhancers	Fetal Brain Male	brain
23	chr12:86175600-86176800	Enhancers	Esophagus	oesophagus
24	chr12:86175600-86177400	Enhancers	Fetal Lung	lung
25	chr12:86175800-86177200	Enhancers	Hela-S3	cervix
26	chr12:86176200-86176600	Enhancers	Small Intestine	intestine
27	chr12:86176400-86176800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:86176400-86176800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:86176400-86178400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:86176400-86179000	Enhancers	NHEK	skin
31	chr12:86176600-86177200	Enhancers	A549	lung
32	chr12:86176600-86178400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:86176600-86178800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:86176600-86179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:86176800-86177000	Enhancers	HMEC	breast
36	chr12:86176800-86177200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:86176800-86178000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:86176800-86178000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr12:86176800-86179200	Weak transcription	Esophagus	oesophagus

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