Variant report

Variant	nsv976594
Chromosome Location	chr12:32876718-32880505
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	CTCF	chr12:32880348-32880436	NHEK	skin:	n/a	chr12:32880417-32880435 chr12:32880418-32880434
2	CTCF	chr12:32880280-32880430	Caco-2	colon:	n/a	n/a
3	CTCF	chr12:32880315-32880466	A549	lung:	n/a	chr12:32880419-32880440 chr12:32880417-32880435 chr12:32880418-32880434
4	CTCF	chr12:32880392-32880469	K562	blood:	n/a	chr12:32880419-32880440 chr12:32880417-32880435 chr12:32880418-32880434
5	CTCF	chr12:32880300-32880450	Caco-2	colon:	n/a	chr12:32880419-32880440 chr12:32880417-32880435 chr12:32880418-32880434
6	CTCF	chr12:32880409-32880446	HepG2	liver:	n/a	chr12:32880419-32880440 chr12:32880417-32880435 chr12:32880418-32880434
7	CTCF	chr12:32880368-32880422	K562	blood:	n/a	n/a
8	CTCF	chr12:32880346-32880436	MCF-7	breast:	n/a	chr12:32880417-32880435 chr12:32880418-32880434
9	CTCF	chr12:32880359-32880420	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:32880338-32880455	H1-hESC	embryonic stem cell:	n/a	chr12:32880419-32880440 chr12:32880417-32880435 chr12:32880418-32880434
11	CTCF	chr12:32880356-32880414	MCF-7	breast:	n/a	n/a
12	FOS	chr12:32878359-32878543	MCF10A-Er-Src	breast:	n/a	chr12:32878416-32878426
13	FOS	chr12:32878347-32878536	MCF10A-Er-Src	breast:	n/a	chr12:32878416-32878426
14	MAFK	chr12:32879767-32879830	HepG2	liver:	n/a	chr12:32879799-32879815 chr12:32879803-32879814
15	MAZ	chr12:32880386-32880409	K562	blood:	n/a	n/a
16	POLR2A	chr12:32879346-32879519	ProgFib	skin:	n/a	n/a
17	POLR2A	chr12:32878324-32878351	K562	blood:	n/a	n/a
18	POLR2A	chr12:32878252-32878310	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:32879237-32879292	K562	blood:	n/a	n/a
20	POLR2A	chr12:32880059-32880249	K562	blood:	n/a	n/a
21	POLR2A	chr12:32878175-32878189	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:32879300-32879329	K562	blood:	n/a	n/a
23	POLR2A	chr12:32880059-32880306	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:32879097-32879563	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:32877706-32877926	K562	blood:	n/a	n/a
26	POLR2A	chr12:32880073-32880076	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:32879529-32879683	ProgFib	skin:	n/a	n/a
28	POLR2A	chr12:32880036-32880072	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:32880146-32880383	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:32880128-32880236	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr12:32879228-32879347	MCF-7	breast:	n/a	n/a
32	RAD21	chr12:32880216-32880544	H1-hESC	embryonic stem cell:	n/a	chr12:32880418-32880437
33	STAT3	chr12:32878258-32878571	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr12:32878266-32878664	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr12:32877773-32878034	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr12:32878247-32878661	MCF10A-Er-Src	breast:	n/a	n/a
37	ZNF384	chr12:32880332-32880476	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32878322..32880632-chr12:32882987..32884603,2	K562	blood:
2	chr12:32880190..32882973-chr12:32883745..32885497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257511	TF binding region
DNM1L	TF binding region
ENSG00000087470	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185938579	chr12:32876796-32876797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547854649	chr12:32876956-32876957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150462314	chr12:32876964-32876965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566657722	chr12:32876975-32876976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190842817	chr12:32877018-32877019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7300090	chr12:32877072-32877073	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs201215026	chr12:32877096-32877097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139287253	chr12:32877097-32877098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376427903	chr12:32877099-32877100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374674922	chr12:32877123-32877124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138249096	chr12:32877181-32877182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183922711	chr12:32877209-32877210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576222185	chr12:32877226-32877227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566933030	chr12:32877249-32877250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143062309	chr12:32877250-32877251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533933883	chr12:32877266-32877267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554092585	chr12:32877338-32877339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386761899	chr12:32877433-32877434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111703250	chr12:32877464-32877465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10535838	chr12:32877520-32877521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139532699	chr12:32877525-32877526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564525167	chr12:32877527-32877528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372737436	chr12:32877529-32877530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375627513	chr12:32877531-32877532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7316891	chr12:32877557-32877558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113734875	chr12:32877570-32877571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556506428	chr12:32877571-32877572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201795619	chr12:32877587-32877588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138015028	chr12:32877598-32877599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182797080	chr12:32877599-32877600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139714569	chr12:32877615-32877616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547521019	chr12:32877621-32877622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374405939	chr12:32877647-32877648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564170857	chr12:32877651-32877652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187141771	chr12:32877798-32877799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10844321	chr12:32877842-32877843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35758280	chr12:32877875-32877876	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10844322	chr12:32877938-32877939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549243659	chr12:32878007-32878008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568751507	chr12:32878008-32878009	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141222358	chr12:32878010-32878011	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576675803	chr12:32878024-32878025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200381294	chr12:32878025-32878026	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192671459	chr12:32878026-32878027	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545903665	chr12:32878050-32878051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571414553	chr12:32878128-32878129	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533992004	chr12:32878159-32878160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553899386	chr12:32878196-32878197	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141984926	chr12:32878240-32878241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536580545	chr12:32878288-32878289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32835000-32902600	Weak transcription	Gastric	stomach
2	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
3	chr12:32851400-32906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:32853000-32902200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32853400-32879200	Weak transcription	Fetal Heart	heart
6	chr12:32859200-32879200	Weak transcription	Pancreas	Pancrea
7	chr12:32859200-32890600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:32859600-32895000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:32860600-32879200	Weak transcription	Colonic Mucosa	Colon
10	chr12:32862400-32889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:32862600-32894200	Weak transcription	Aorta	Aorta
12	chr12:32862600-32896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:32865000-32878600	Weak transcription	Thymus	Thymus
14	chr12:32865000-32889600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:32865000-32893000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:32865000-32904400	Weak transcription	Stomach Mucosa	stomach
17	chr12:32865200-32889200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:32865400-32879000	Weak transcription	Fetal Brain Male	brain
19	chr12:32865400-32884600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:32865400-32892600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:32866600-32881000	Weak transcription	Brain Germinal Matrix	brain
22	chr12:32867000-32878200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:32867200-32879000	Weak transcription	Fetal Brain Female	brain
24	chr12:32868600-32883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:32869600-32892800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32871200-32880000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:32871200-32881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32871200-32881000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:32871200-32882000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:32871200-32883000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:32871200-32904600	Strong transcription	Dnd41	blood
32	chr12:32871400-32879800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:32871400-32881200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:32871400-32881600	Strong transcription	Placenta	Placenta
35	chr12:32871400-32881600	Strong transcription	GM12878-XiMat	blood
36	chr12:32871400-32881800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:32871400-32881800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32871400-32881800	Strong transcription	HSMM	muscle
39	chr12:32871400-32888200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:32871400-32892200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:32871400-32905800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:32871400-32906000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:32871400-32906000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:32871400-32906000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:32871400-32906200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:32871400-32906200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:32871400-32906600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:32871400-32906600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:32871400-32906800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:32871400-32907000	Strong transcription	Monocytes-CD14+_RO01746	blood

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