Variant report

Variant	nsv976654
Chromosome Location	chr12:120683141-120685568
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	ARID3A	chr12:120685549-120685802	K562	blood:	n/a	n/a
2	BCL3	chr12:120682827-120683248	GM12878	blood:	n/a	n/a
3	BCL3	chr12:120682809-120683213	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:120682831-120683234	K562	blood:	n/a	n/a
5	CEBPB	chr12:120685379-120685896	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:120685559-120685882	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:120685394-120685843	A549	lung:	n/a	n/a
8	CHD1	chr12:120682708-120683396	IMR90	lung:	n/a	n/a
9	CUX1	chr12:120682948-120683203	K562	blood:	n/a	chr12:120683091-120683105
10	EP300	chr12:120685184-120685773	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr12:120685220-120685909	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr12:120682828-120683311	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr12:120682848-120683236	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr12:120685179-120685996	A549	lung:	n/a	n/a
15	EP300	chr12:120685113-120685893	SK-N-SH	brain:	n/a	n/a
16	FOS	chr12:120685334-120685935	MCF10A-Er-Src	breast:	n/a	chr12:120685496-120685507
17	FOS	chr12:120685295-120685920	HUVEC	blood vessel:	n/a	chr12:120685496-120685507
18	FOS	chr12:120685339-120685920	MCF10A-Er-Src	breast:	n/a	chr12:120685496-120685507
19	FOS	chr12:120685356-120685916	MCF10A-Er-Src	breast:	n/a	chr12:120685496-120685507
20	FOS	chr12:120684937-120685962	MCF10A-Er-Src	breast:	n/a	chr12:120685496-120685507
21	FOSL1	chr12:120685193-120686130	HCT-116	colon:	n/a	n/a
22	FOSL2	chr12:120685135-120685959	A549	lung:	n/a	n/a
23	FOSL2	chr12:120685185-120686009	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr12:120685296-120685789	MCF-7	breast:	n/a	n/a
25	FOSL2	chr12:120685339-120685815	A549	lung:	n/a	n/a
26	GATA2	chr12:120685359-120685638	SH-SY5Y	brain:	n/a	n/a
27	GATA2	chr12:120685154-120685792	HUVEC	blood vessel:	n/a	chr12:120685226-120685233
28	GATA3	chr12:120685171-120685661	MCF-7	breast:	n/a	chr12:120685226-120685233
29	GATA3	chr12:120685312-120685679	T-47D	breast:	n/a	n/a
30	GATA3	chr12:120685107-120686065	A549	lung:	n/a	chr12:120685226-120685233
31	GATA3	chr12:120685418-120685701	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr12:120684980-120685984	SK-N-SH	brain:	n/a	chr12:120685226-120685233
33	GATA3	chr12:120684826-120686728	SK-N-SH	brain:	n/a	chr12:120686074-120686084 chr12:120685226-120685233
34	GATA3	chr12:120685342-120685696	MCF-7	breast:	n/a	n/a
35	GATA3	chr12:120685159-120685810	MCF-7	breast:	n/a	chr12:120685226-120685233
36	HDAC2	chr12:120685319-120685778	MCF-7	breast:	n/a	chr12:120685632-120685646
37	JUN	chr12:120685378-120685855	HUVEC	blood vessel:	n/a	n/a
38	JUN	chr12:120685084-120685947	K562	blood:	n/a	n/a
39	JUND	chr12:120682980-120683180	K562	blood:	n/a	chr12:120683038-120683050
40	JUND	chr12:120685065-120686068	SK-N-SH	brain:	n/a	n/a
41	JUND	chr12:120685160-120686017	SK-N-SH	brain:	n/a	n/a
42	JUND	chr12:120685082-120686078	SK-N-SH	brain:	n/a	n/a
43	JUND	chr12:120685350-120685877	K562	blood:	n/a	n/a
44	MAFK	chr12:120682947-120683157	K562	blood:	n/a	n/a
45	MAX	chr12:120685133-120685749	SK-N-SH	brain:	n/a	n/a
46	MAX	chr12:120685172-120685755	SK-N-SH	brain:	n/a	n/a
47	MAZ	chr12:120682483-120683365	IMR90	lung:	n/a	n/a
48	MYC	chr12:120685437-120685711	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr12:120685356-120685771	MCF10A-Er-Src	breast:	n/a	n/a
50	NFATC1	chr12:120682876-120683221	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120684888..120687057-chr12:120687063..120691406,4	MCF-7	breast:
2	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
5	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
6	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
7	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
8	chr12:120683364..120686301-chr12:120702145..120704591,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-4	chr12:120685263-120685594	NONHSAT031128

Variant related genes	Relation type
RPS20P31	TF binding region
ENSG00000123009	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000089157	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183847360	chr12:120683184-120683185	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs557265396	chr12:120683187-120683188	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs577226075	chr12:120683204-120683205	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs142414525	chr12:120683205-120683206	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs11065057	chr12:120683208-120683209	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs559505895	chr12:120683209-120683210	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs528323984	chr12:120683233-120683234	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs115877289	chr12:120683244-120683245	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs143728975	chr12:120683293-120683294	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561662688	chr12:120683306-120683307	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs187520727	chr12:120683328-120683329	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs550180475	chr12:120683342-120683343	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs569978370	chr12:120683356-120683357	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs532675515	chr12:120683387-120683388	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs552447743	chr12:120683394-120683395	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs566259427	chr12:120683507-120683508	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs571506760	chr12:120683515-120683516	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs555027072	chr12:120683540-120683541	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536977455	chr12:120683570-120683571	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs145965963	chr12:120683578-120683579	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376899015	chr12:120683582-120683583	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs77508218	chr12:120683613-120683614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs191985886	chr12:120683627-120683628	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs148623865	chr12:120683644-120683645	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs372305569	chr12:120683651-120683652	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs182722765	chr12:120683656-120683657	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76916991	chr12:120683660-120683661	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs12164847	chr12:120683663-120683664	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187055306	chr12:120683744-120683745	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112281106	chr12:120683763-120683764	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs372567078	chr12:120683808-120683809	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs544067264	chr12:120683835-120683836	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs7966099	chr12:120683908-120683909	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs370444660	chr12:120683937-120683938	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs543765134	chr12:120683946-120683947	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs563742135	chr12:120683948-120683949	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs532810389	chr12:120683949-120683950	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs552824723	chr12:120683953-120683954	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs533009279	chr12:120683959-120683960	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs192625100	chr12:120683968-120683969	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs548513198	chr12:120683992-120683993	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs184631148	chr12:120684058-120684059	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs142048716	chr12:120684067-120684068	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs551144254	chr12:120684121-120684122	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs570853158	chr12:120684127-120684128	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs139689226	chr12:120684318-120684319	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs572245391	chr12:120684330-120684331	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs553208641	chr12:120684332-120684333	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs573075479	chr12:120684333-120684334	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs12823250	chr12:120684336-120684337	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
5	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
7	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:120676400-120685000	Genic enhancers	NHEK	skin
9	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
11	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
12	chr12:120677000-120683400	Enhancers	HSMMtube	muscle
13	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:120678000-120683200	Enhancers	NHDF-Ad	bronchial
15	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
16	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
18	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:120680000-120684200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:120680000-120685200	Enhancers	HUVEC	blood vessel
22	chr12:120680000-120685400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
24	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:120680200-120683200	Strong transcription	Fetal Intestine Small	intestine
26	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:120680400-120685800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:120680400-120687400	Weak transcription	Fetal Thymus	thymus
29	chr12:120680800-120683800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:120681000-120686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:120681000-120687200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:120681200-120683200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:120681400-120683200	Enhancers	Primary T cells from cord blood	blood
34	chr12:120681600-120685200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:120681600-120685600	Weak transcription	HepG2	liver
36	chr12:120681800-120685000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:120682000-120684800	Weak transcription	Liver	Liver
38	chr12:120682000-120685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:120682000-120685000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:120682400-120683400	Enhancers	Osteobl	bone
42	chr12:120682600-120683200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:120682600-120683200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:120682600-120683200	Enhancers	Left Ventricle	heart
45	chr12:120682600-120683200	Enhancers	Ovary	ovary
46	chr12:120682600-120683200	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:120682600-120683200	Enhancers	Right Ventricle	heart
48	chr12:120682600-120683400	Enhancers	NH-A	brain
49	chr12:120682600-120683800	Enhancers	Adipose Nuclei	Adipose
50	chr12:120682600-120684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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