Variant report

Variant	nsv521922
Chromosome Location	chr12:8986379-8991970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr12:8991830-8991884	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:8990329-8990471	ProgFib	skin:	n/a	n/a
3	POLR2A	chr12:8988797-8988824	K562	blood:	n/a	n/a
4	ZNF384	chr12:8990321-8990700	K562	blood:	n/a	n/a
5	ZNF384	chr12:8988633-8988695	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8986988-8987038	PANC-1	pancreas:	n/a
2	chr12:8986988-8987038	NT2-D1	testis:	n/a
3	chr12:8986988-8987038	PFSK-1	brain:	n/a
4	chr12:8986988-8987038	HNPCEpiC	eye:	n/a
5	chr12:8986988-8987038	PrEC	prostate:	n/a
6	chr12:8986988-8987038	NB4	blood:	n/a
7	chr12:8986988-8987038	SK-N-MC	brain:	n/a
8	chr12:8986988-8987038	T-47D	breast:	n/a
9	chr12:8986988-8987038	H1-hESC	embryonic stem cell:	embryo
10	chr12:8986988-8987038	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:8986988-8987038	HUVEC	blood vessel:	n/a
12	chr12:8986988-8987038	LNCaP	prostate:	n/a
13	chr12:8986988-8987038	SKMC	muscle:	n/a
14	chr12:8986988-8987038	AG04450	lung:	fetal
15	chr12:8986988-8987038	NHBE	bronchial:	n/a
16	chr12:8986988-8987038	BE2_C	brain:	n/a
17	chr12:8986988-8987038	HRPEpiC	eye:	n/a
18	chr12:8986988-8987038	HEEpiC	esophagus:	n/a
19	chr12:8986988-8987038	HCM	heart:	n/a
20	chr12:8986988-8987038	HEK293	kidney:	embryo
21	chr12:8986988-8987038	HL-60	blood:	n/a
22	chr12:8986988-8987038	HMEC	breast:	n/a
23	chr12:8986988-8987038	AG04449	skin:	fetal
24	chr12:8986988-8987038	HRE	kidney:	n/a
25	chr12:8986988-8987038	Hepatocyte	liver:	n/a
26	chr12:8986988-8987038	ovcar-3	ovarian:	n/a
27	chr12:8986988-8987038	Jurkat	blood:	n/a
28	chr12:8986988-8987038	HCF	heart:	n/a
29	chr12:8986988-8987038	HCPEpiC	choroid plexus:	n/a
30	chr12:8986988-8987038	AG09309	skin:	n/a
31	chr12:8986988-8987038	HIPEpiC	eye:	n/a
32	chr12:8986988-8987038	Caco-2	colon:	n/a
33	chr12:8986988-8987038	HAEpiC	amniotic membrane:	n/a
34	chr12:8986988-8987038	AoSMC	blood vessel:	n/a
35	chr12:8986988-8987038	SK-N-SH	brain:	n/a
36	chr12:8986988-8987038	AG09319	gingival:	n/a
37	chr12:8986988-8987038	CMK	blood:	n/a
38	chr12:8986988-8987038	RPTEC	kidney:	n/a
39	chr12:8986988-8987038	U87	brain:	n/a
40	chr12:8986988-8987038	GM12878	blood:	n/a
41	chr12:8986988-8987038	NH-A	brain:	n/a
42	chr12:8986988-8987038	ProgFib	skin:	n/a
43	chr12:8986988-8987038	HepG2	liver:	n/a
44	chr12:8986988-8987038	MCF-7	breast:	n/a
45	chr12:8986988-8987038	IMR90	lung:	fetal
46	chr12:8986988-8987038	GM12891	blood:	n/a
47	chr12:8986988-8987038	HCT-116	colon:	n/a
48	chr12:8986988-8987038	BJ	skin:	n/a
49	chr12:8986988-8987038	MCF10A-Er-Src	breast:	n/a
50	chr12:8986988-8987038	HRCEpiC	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8980074..8981757-chr12:8983950..8986667,2	MCF-7	breast:
2	chr12:8980443..8982182-chr12:8987390..8989439,2	MCF-7	breast:
3	chr12:8973639..8975831-chr12:8984866..8987670,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMKLB-5	chr12:8987258-8987531	NONHSAT026373

No data

Variant related genes	Relation type
A2ML1-AS1	TF binding region
A2ML1	TF binding region
A2ML1-AS1	CpG island
A2ML1	CpG island
ENSG00000166535	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10842366	chr12:8986379-8986380	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73251237	chr12:8986455-8986456	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373546042	chr12:8986500-8986501	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189544020	chr12:8986534-8986535	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7970580	chr12:8986553-8986554	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78196755	chr12:8986590-8986591	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117055843	chr12:8986609-8986610	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73036998	chr12:8986718-8986719	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147800768	chr12:8986742-8986743	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141273041	chr12:8986785-8986786	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34582945	chr12:8986819-8986820	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376692903	chr12:8986833-8986834	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7485237	chr12:8986838-8986839	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73036999	chr12:8986862-8986863	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144908904	chr12:8986883-8986884	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373752662	chr12:8986941-8986942	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181550817	chr12:8987004-8987005	Flanking Active TSS Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562222166	chr12:8987020-8987021	Flanking Active TSS Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186899227	chr12:8987057-8987058	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370026539	chr12:8987118-8987119	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149029881	chr12:8987151-8987152	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371936725	chr12:8987211-8987212	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540289691	chr12:8987233-8987234	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374870623	chr12:8987234-8987235	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369358231	chr12:8987248-8987249	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11047493	chr12:8987249-8987250	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201422574	chr12:8987265-8987266	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs73037000	chr12:8987285-8987286	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200991926	chr12:8987299-8987300	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs370049177	chr12:8987302-8987303	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs17729632	chr12:8987417-8987418	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148260101	chr12:8987536-8987537	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4883187	chr12:8987550-8987551	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191419332	chr12:8987562-8987563	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140303627	chr12:8987626-8987627	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183201980	chr12:8987735-8987736	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186596525	chr12:8987879-8987880	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190599210	chr12:8987893-8987894	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73037001	chr12:8987922-8987923	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73037002	chr12:8987924-8987925	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562486662	chr12:8987929-8987930	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531463153	chr12:8987944-8987945	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182275075	chr12:8987992-8987993	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376219642	chr12:8988037-8988038	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373332979	chr12:8988067-8988068	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377729149	chr12:8988071-8988072	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370847561	chr12:8988102-8988103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200136680	chr12:8988111-8988112	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373580681	chr12:8988131-8988132	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375832865	chr12:8988132-8988133	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8979000-8995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8981600-8987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:8981800-8986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:8981800-8987400	Weak transcription	Esophagus	oesophagus
5	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:8982600-8988000	Weak transcription	K562	blood
7	chr12:8983200-8986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:8983800-8999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:8984000-8986600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:8984000-8987000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:8984400-8986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:8985200-8987600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:8985400-8986600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:8985400-8992400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:8985600-8987000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:8985800-8986800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:8985800-8988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:8986200-8987000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:8986200-8987800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:8986200-8987800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:8986200-8988000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:8986200-8988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:8986400-8987600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:8986400-8987600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:8986400-8988200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:8986600-8987800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:8986600-8987800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:8986600-8988200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:8986800-8987200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:8986800-8987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:8986800-8987400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:8986800-8987400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:8986800-8988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:8987000-8987200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:8987000-8987600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:8987000-8988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:8987200-8987600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:8987200-8988200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:8987400-8989000	Strong transcription	Esophagus	oesophagus
41	chr12:8987400-8991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:8987600-9004200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:8987800-9002800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:8987800-9004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:8987800-9012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:8988000-8988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:8988000-8989000	Enhancers	K562	blood
49	chr12:8988200-8990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:8988200-8990600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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