Variant report

Variant	nsv524633
Chromosome Location	chr12:31158519-31162614
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	CHD2	chr12:31158840-31159211	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:31158855-31158933	Hela-S3	cervix:	n/a	n/a
3	EP300	chr12:31159026-31159140	Hela-S3	cervix:	n/a	n/a
4	FOS	chr12:31159091-31159298	MCF10A-Er-Src	breast:	n/a	chr12:31159168-31159178 chr12:31159169-31159177 chr12:31159170-31159181 chr12:31159167-31159178 chr12:31159168-31159178
5	FOS	chr12:31159118-31159219	MCF10A-Er-Src	breast:	n/a	chr12:31159168-31159178 chr12:31159169-31159177 chr12:31159170-31159181 chr12:31159167-31159178 chr12:31159168-31159178
6	FOS	chr12:31159062-31159219	MCF10A-Er-Src	breast:	n/a	chr12:31159168-31159178 chr12:31159169-31159177 chr12:31159170-31159181 chr12:31159167-31159178 chr12:31159168-31159178
7	FOS	chr12:31159031-31159231	MCF10A-Er-Src	breast:	n/a	chr12:31159168-31159178 chr12:31159169-31159177 chr12:31159170-31159181 chr12:31159167-31159178 chr12:31159168-31159178
8	GABPA	chr12:31158784-31159118	A549	lung:	n/a	n/a
9	GABPA	chr12:31158778-31159215	A549	lung:	n/a	n/a
10	GABPA	chr12:31158770-31159202	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr12:31158844-31159113	Hela-S3	cervix:	n/a	n/a
12	GTF2F1	chr12:31159015-31159204	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr12:31159075-31159121	Hela-S3	cervix:	n/a	n/a
14	MAX	chr12:31158787-31159563	A549	lung:	n/a	n/a
15	MAX	chr12:31158823-31159311	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr12:31158767-31159242	Hela-S3	cervix:	n/a	n/a
17	NR3C1	chr12:31158867-31159117	A549	lung:	n/a	chr12:31158968-31158981
18	NR3C1	chr12:31158757-31159292	A549	lung:	n/a	chr12:31159168-31159177 chr12:31158968-31158981
19	POLR2A	chr12:31158913-31159259	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:31158720-31159401	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:31158861-31159370	U87	brain:	n/a	n/a
22	POLR2A	chr12:31159281-31159297	Hela-S3	cervix:	n/a	n/a
23	PRDM1	chr12:31159005-31159250	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr12:31158801-31158990	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr12:31159001-31159354	Hela-S3	cervix:	n/a	n/a
26	RFX5	chr12:31159006-31159206	Hela-S3	cervix:	n/a	n/a
27	RUNX3	chr12:31158912-31159197	GM12878	blood:	n/a	n/a
28	SMC3	chr12:31158816-31159077	Hela-S3	cervix:	n/a	chr12:31159064-31159071
29	STAT3	chr12:31158877-31159138	MCF10A-Er-Src	breast:	n/a	chr12:31158971-31158983 chr12:31158976-31158984
30	STAT3	chr12:31159601-31159774	MCF10A-Er-Src	breast:	n/a	n/a
31	TBP	chr12:31158887-31159257	Hela-S3	cervix:	n/a	n/a
32	ZKSCAN1	chr12:31158999-31159311	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr12:31158857-31159267	Hela-S3	cervix:	n/a	n/a
34	ZNF263	chr12:31159441-31159808	HEK293-T-REx	kidney:	n/a	chr12:31159580-31159589

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31159465..31161712-chr12:31163343..31166025,2	K562	blood:

Variant related genes	Relation type
ENSG00000226472	TF binding region
ENSG00000256984	TF binding region
ENSG00000256984	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs35053	chr12:31158519-31158520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535678321	chr12:31158526-31158527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs61299274	chr12:31158540-31158541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568980451	chr12:31158614-31158615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71453795	chr12:31158662-31158663	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539150828	chr12:31158668-31158669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557792637	chr12:31158689-31158690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572507139	chr12:31158701-31158702	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368211420	chr12:31158733-31158734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555647256	chr12:31158739-31158740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574172461	chr12:31158800-31158801	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs553288532	chr12:31158825-31158826	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574770736	chr12:31158862-31158863	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs542457461	chr12:31158865-31158866	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs563723040	chr12:31158869-31158870	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs149495919	chr12:31158874-31158875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs7135553	chr12:31158898-31158899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564574566	chr12:31158907-31158908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528508297	chr12:31158962-31158963	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546999790	chr12:31158994-31158995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568390740	chr12:31158998-31158999	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143758516	chr12:31159035-31159036	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550790650	chr12:31159044-31159045	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74084748	chr12:31159127-31159128	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539572605	chr12:31159209-31159210	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557584253	chr12:31159215-31159216	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs148142572	chr12:31159235-31159236	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141974306	chr12:31159247-31159248	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112151202	chr12:31159248-31159249	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12318437	chr12:31159255-31159256	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572302195	chr12:31159324-31159325	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533376771	chr12:31159379-31159380	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557588839	chr12:31159456-31159457	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189370024	chr12:31159477-31159478	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192318344	chr12:31159504-31159505	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564602236	chr12:31159532-31159533	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71453796	chr12:31159591-31159592	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs140675066	chr12:31159618-31159619	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142980734	chr12:31159690-31159691	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545721028	chr12:31159704-31159705	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562053028	chr12:31159807-31159808	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529245213	chr12:31159815-31159816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545336010	chr12:31159819-31159820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201969244	chr12:31159902-31159903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560842776	chr12:31159909-31159910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562773075	chr12:31159920-31159921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369906237	chr12:31159937-31159938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533013973	chr12:31159987-31159988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551531945	chr12:31159989-31159990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34038457	chr12:31159995-31159996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31142200-31160600	Weak transcription	Fetal Brain Female	brain
2	chr12:31147200-31185000	Weak transcription	Right Atrium	heart
3	chr12:31154200-31158600	Weak transcription	Osteobl	bone
4	chr12:31154200-31158800	Weak transcription	NHDF-Ad	bronchial
5	chr12:31154800-31158600	Weak transcription	Lung	lung
6	chr12:31155600-31158800	Enhancers	Adipose Nuclei	Adipose
7	chr12:31156400-31161000	Enhancers	HSMMtube	muscle
8	chr12:31156800-31164000	Weak transcription	Fetal Thymus	thymus
9	chr12:31157400-31159000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:31157600-31158800	Weak transcription	Spleen	Spleen
11	chr12:31157800-31159000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:31157800-31159000	Flanking Active TSS	HSMM	muscle
13	chr12:31157800-31160000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:31157800-31160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:31158200-31159200	Flanking Active TSS	Hela-S3	cervix
16	chr12:31158200-31159400	Enhancers	HMEC	breast
17	chr12:31158200-31159600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:31158200-31159600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:31158400-31159200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:31158400-31159400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:31158400-31159400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:31158400-31159600	Enhancers	A549	lung
23	chr12:31158400-31161200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:31158400-31174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:31158600-31159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:31158600-31159400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:31158600-31159400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:31158600-31159400	Enhancers	Lung	lung
29	chr12:31158600-31159400	Enhancers	Osteobl	bone
30	chr12:31158600-31159600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:31158800-31159200	Enhancers	Esophagus	oesophagus
32	chr12:31158800-31159200	Bivalent Enhancer	Placenta	Placenta
33	chr12:31158800-31159200	Enhancers	Left Ventricle	heart
34	chr12:31158800-31159200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:31158800-31159200	Enhancers	Stomach Mucosa	stomach
36	chr12:31158800-31159200	Enhancers	NHDF-Ad	bronchial
37	chr12:31158800-31159400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:31158800-31159400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:31158800-31159400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr12:31158800-31159400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:31158800-31159400	Enhancers	NHEK	skin
42	chr12:31158800-31159600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:31158800-31159600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:31158800-31160000	Enhancers	Spleen	Spleen
45	chr12:31158800-31162600	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:31159000-31159200	Enhancers	Colonic Mucosa	Colon
47	chr12:31159000-31161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:31159000-31161200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:31159000-31161600	Enhancers	HSMM	muscle
50	chr12:31159200-31160000	Enhancers	Hela-S3	cervix

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