Variant report

Variant	nsv524382
Chromosome Location	chr12:1108730-1125475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:1123393-1123506	A549	lung:	n/a	n/a
2	CEBPB	chr12:1123306-1123669	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:1115540-1115690	HMEC	breast:	n/a	n/a
4	CTCF	chr12:1117264-1117313	ProgFib	skin:	n/a	n/a
5	E2F4	chr12:1123251-1123551	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:1122522-1122805	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:1115473-1115661	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:1122607-1122803	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:1123245-1123682	MCF10A-Er-Src	breast:	n/a	chr12:1123450-1123461
10	FOS	chr12:1123271-1123643	HUVEC	blood vessel:	n/a	chr12:1123450-1123461
11	FOS	chr12:1123221-1123665	MCF10A-Er-Src	breast:	n/a	chr12:1123450-1123461
12	FOS	chr12:1122649-1122822	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr12:1115500-1115606	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr12:1123266-1123652	MCF10A-Er-Src	breast:	n/a	chr12:1123450-1123461
15	FOS	chr12:1123245-1123658	MCF10A-Er-Src	breast:	n/a	chr12:1123450-1123461
16	FOSL1	chr12:1123126-1123736	HCT-116	colon:	n/a	n/a
17	FOSL2	chr12:1123278-1123571	A549	lung:	n/a	n/a
18	FOSL2	chr12:1123022-1123715	A549	lung:	n/a	n/a
19	FOSL2	chr12:1123131-1123714	SK-N-SH	brain:	n/a	n/a
20	JUN	chr12:1117230-1117442	HepG2	liver:	n/a	chr12:1117379-1117392 chr12:1117383-1117392
21	JUND	chr12:1117231-1117513	HepG2	liver:	n/a	chr12:1117383-1117392
22	JUND	chr12:1123062-1123841	SK-N-SH	brain:	n/a	n/a
23	JUND	chr12:1116562-1116793	HepG2	liver:	n/a	n/a
24	KAP1	chr12:1123242-1123606	U2OS	brain:	n/a	n/a
25	MAFK	chr12:1112563-1112684	HepG2	liver:	n/a	n/a
26	MAX	chr12:1123331-1123537	Hela-S3	cervix:	n/a	n/a
27	MAX	chr12:1111670-1111819	A549	lung:	n/a	n/a
28	MAX	chr12:1122960-1123590	A549	lung:	n/a	n/a
29	MYC	chr12:1122966-1123682	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr12:1122959-1123652	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr12:1115497-1115826	MCF10A-Er-Src	breast:	n/a	n/a
32	NR2F2	chr12:1120653-1121129	MCF-7	breast:	n/a	n/a
33	POLR2A	chr12:1115989-1116027	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:1112616-1113103	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr12:1122657-1122857	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:1123168-1123610	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr12:1112582-1113110	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr12:1123307-1123593	HCT-116	colon:	n/a	n/a
39	POLR2A	chr12:1111229-1111253	K562	blood:	n/a	n/a
40	POLR2A	chr12:1116482-1116488	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:1123012-1123608	MCF10A-Er-Src	breast:	n/a	n/a
42	REST	chr12:1112588-1113479	H1-neurons	neurons:	n/a	n/a
43	RXRA	chr12:1112825-1113145	HepG2	liver:	n/a	n/a
44	STAT3	chr12:1122797-1122926	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr12:1123243-1123540	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr12:1123245-1123585	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr12:1123279-1123585	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr12:1123243-1123547	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr12:1123179-1123523	MCF10A-Er-Src	breast:	n/a	n/a
50	ZKSCAN1	chr12:1123434-1123676	Hela-S3	cervix:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1112403..1114788-chr12:1124041..1126643,2	MCF-7	breast:
2	chr12:1121748..1124121-chr12:1125522..1128122,2	K562	blood:
3	chr12:1099457..1102030-chr12:1124374..1127197,2	MCF-7	breast:
4	chr12:1099395..1101997-chr12:1116797..1119269,2	MCF-7	breast:
5	chr12:1105575..1107206-chr12:1112687..1115441,2	MCF-7	breast:
6	chr12:1115484..1118405-chr12:1144676..1146516,2	K562	blood:
7	chr12:1124727..1126388-chr12:1127610..1130322,2	K562	blood:
8	chr12:1098745..1101641-chr12:1113139..1115452,2	MCF-7	breast:
9	chr12:1099208..1102157-chr12:1111838..1114594,2	K562	blood:
10	chr12:1123645..1125467-chr12:1128602..1130622,2	MCF-7	breast:
11	chr12:1124432..1126227-chr12:1128822..1131462,2	K562	blood:
12	chr12:1112403..1114788-chr12:1124041..1126643,2	MCF-7	breast:
13	chr12:1106615..1109264-chr12:1111122..1112968,2	K562	blood:
14	chr12:1102489..1104981-chr12:1121749..1123712,2	MCF-7	breast:
15	chr12:1105236..1108232-chr12:1119325..1121550,2	K562	blood:
16	chr12:1097166..1102781-chr12:1103327..1109862,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNK1-2	chr12:1119501-1119792	NONHSAT025383

No data

Variant related genes	Relation type
RN7SL852P	TF binding region
ENSG00000250132	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000082805	chromatin interactions

Extended variants
information (count: 675 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9668496	chr12:1108730-1108731	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10661786	chr12:1108776-1108777	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11379712	chr12:1108796-1108797	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs561065432	chr12:1108817-1108818	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs368415561	chr12:1108822-1108823	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530600128	chr12:1108829-1108830	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531492515	chr12:1108834-1108835	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182533571	chr12:1108836-1108837	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs148188303	chr12:1108876-1108877	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550424314	chr12:1108897-1108898	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs111265426	chr12:1108907-1108908	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs79343886	chr12:1108931-1108932	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565304978	chr12:1108960-1108961	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs185329105	chr12:1108974-1108975	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150275887	chr12:1108978-1108979	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567530940	chr12:1108994-1108995	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201243602	chr12:1108995-1108996	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538096926	chr12:1109007-1109008	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138928003	chr12:1109015-1109016	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs571874963	chr12:1109040-1109041	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs61917256	chr12:1109046-1109047	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12826368	chr12:1109068-1109069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs554229887	chr12:1109152-1109153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7306671	chr12:1109246-1109247	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368882200	chr12:1109282-1109283	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs12425812	chr12:1109324-1109325	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12425824	chr12:1109348-1109349	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs189737031	chr12:1109353-1109354	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs555140534	chr12:1109376-1109377	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs6489776	chr12:1109377-1109378	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12816730	chr12:1109380-1109381	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs56677510	chr12:1109439-1109440	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs183444985	chr12:1109466-1109467	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565072837	chr12:1109471-1109472	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187830011	chr12:1109472-1109473	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541293836	chr12:1109493-1109494	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs11064635	chr12:1109495-1109496	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558930105	chr12:1109525-1109526	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs529604119	chr12:1109583-1109584	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs566314085	chr12:1109610-1109611	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs193181479	chr12:1109635-1109636	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs559573455	chr12:1109638-1109639	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547776480	chr12:1109639-1109640	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549626308	chr12:1109654-1109655	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs79834769	chr12:1109655-1109656	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs202241558	chr12:1109666-1109667	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs58369340	chr12:1109668-1109669	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs530608411	chr12:1109684-1109685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs574650591	chr12:1109713-1109714	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs550142860	chr12:1109749-1109750	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1101000-1123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1101200-1112800	Weak transcription	Gastric	stomach
3	chr12:1101200-1112800	Weak transcription	Ovary	ovary
4	chr12:1101200-1137000	Weak transcription	Lung	lung
5	chr12:1101400-1113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:1101400-1115400	Weak transcription	Esophagus	oesophagus
7	chr12:1101600-1109800	Weak transcription	Fetal Stomach	stomach
8	chr12:1101600-1112600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:1101600-1112800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:1101600-1112800	Weak transcription	Fetal Thymus	thymus
11	chr12:1101600-1112800	Weak transcription	Right Ventricle	heart
12	chr12:1101600-1112800	Weak transcription	Thymus	Thymus
13	chr12:1101600-1113200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:1101600-1116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:1101600-1116200	Weak transcription	Small Intestine	intestine
16	chr12:1101600-1130400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:1101600-1136800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:1101600-1136800	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:1101600-1137000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:1101800-1112800	Weak transcription	Right Atrium	heart
21	chr12:1101800-1131000	Weak transcription	Primary B cells from cord blood	blood
22	chr12:1102000-1110400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:1102000-1110400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:1102000-1112600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:1102000-1112800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:1102000-1112800	Weak transcription	Fetal Intestine Small	intestine
27	chr12:1102000-1122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:1102000-1137000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:1102000-1137200	Weak transcription	Fetal Lung	lung
30	chr12:1102200-1110400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:1102200-1112400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:1102200-1112600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:1102200-1112600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:1102200-1112800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:1102200-1118800	Weak transcription	Fetal Brain Male	brain
36	chr12:1102200-1122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:1102200-1129000	Weak transcription	Primary T cells from cord blood	blood
38	chr12:1102200-1131000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:1102200-1131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:1102200-1135200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:1102400-1112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:1102400-1112600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:1102400-1112800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:1102600-1110200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:1102600-1112400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:1102600-1112800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:1102600-1113000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:1102600-1115400	Weak transcription	HMEC	breast
49	chr12:1102600-1118800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:1102600-1136800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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