Variant report

Variant	nsv8904
Chromosome Location	chr12:9468460-9470499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:9469615-9469666	Pancreas_OC	pancreas:	n/a	n/a
2	FOSL2	chr12:9469262-9469628	HepG2	liver:	n/a	chr12:9469553-9469565
3	POLR2A	chr12:9469213-9469750	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:9468239-9468602	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:9468262-9468586	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:9468233-9468652	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:9468290-9469062	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:9468290-9468891	A549	lung:	n/a	n/a
9	POLR2A	chr12:9470118-9470342	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:9468314-9468613	A549	lung:	n/a	n/a
11	POLR2A	chr12:9469822-9470214	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:9468795-9468936	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:9469763-9470122	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:9469538-9469640	K562	blood:	n/a	n/a
15	POLR2A	chr12:9468271-9468523	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:9469157-9470039	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:9468238-9468749	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:9468966-9469286	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:9468357-9468560	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:9469892-9470068	ProgFib	skin:	n/a	n/a
21	POLR2A	chr12:9468369-9468562	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:9469573-9469942	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr12:9469412-9469676	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:9468746-9468822	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:9468902-9468929	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:9468237-9468724	GM12892	blood:	n/a	n/a
27	POLR2A	chr12:9468232-9468568	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:9468363-9468608	A549	lung:	n/a	n/a
29	POLR2A	chr12:9466689-9469721	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:9468206-9468901	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF263	chr12:9468385-9468668	HEK293-T-REx	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9216104..9218306-chr12:9470179..9473467,3	MCF-7	breast:
2	chr12:9215714..9219195-chr12:9470456..9473261,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRG1-7	chr12:9469448-9469503	NONHSAT026402
2	lnc-KLRG1-7	chr12:9469938-9470103	NONHSAT026402

No data

Variant related genes	Relation type
ENSG00000255753	TF binding region
ENSG00000245105	chromatin interactions
ENSG00000214851	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374146284	chr12:9468489-9468490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67205533	chr12:9468522-9468523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs66719700	chr12:9468558-9468559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186854235	chr12:9468559-9468560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76595344	chr12:9468617-9468618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566150284	chr12:9468697-9468698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146026121	chr12:9468753-9468754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142336775	chr12:9468775-9468776	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371282844	chr12:9468826-9468827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374985303	chr12:9468863-9468864	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201259010	chr12:9469039-9469040	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375432509	chr12:9469067-9469068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs144135572	chr12:9469084-9469085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139249544	chr12:9469110-9469111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551766708	chr12:9469111-9469112	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372753789	chr12:9469266-9469267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377491854	chr12:9469339-9469340	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371925909	chr12:9469401-9469402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112371877	chr12:9469514-9469515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375429725	chr12:9469592-9469593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2553116	chr12:9469641-9469642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190019893	chr12:9469787-9469788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367766571	chr12:9469811-9469812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs56236944	chr12:9469846-9469847	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs61918193	chr12:9469854-9469855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181304920	chr12:9469888-9469889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs185038671	chr12:9469909-9469910	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373517578	chr12:9469954-9469955	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs75685042	chr12:9469965-9469966	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs139501491	chr12:9469984-9469985	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs189891606	chr12:9470000-9470001	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs200023765	chr12:9470011-9470012	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs377462333	chr12:9470016-9470017	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs182577680	chr12:9470022-9470023	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs188882696	chr12:9470023-9470024	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs7969222	chr12:9470120-9470121	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs192024638	chr12:9470126-9470127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183566468	chr12:9470168-9470169	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs139090749	chr12:9470213-9470214	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs187616899	chr12:9470238-9470239	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112323048	chr12:9470259-9470260	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs7956682	chr12:9470281-9470282	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs377583916	chr12:9470350-9470351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201024372	chr12:9470358-9470359	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191731917	chr12:9470389-9470390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188064931	chr12:9470410-9470411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540737450	chr12:9470445-9470446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs184321038	chr12:9470447-9470448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9437200-9472400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:9437200-9485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9437400-9470800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:9450200-9471400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:9456200-9472200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:9456400-9471800	Weak transcription	GM12878-XiMat	blood
7	chr12:9457400-9485800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:9458000-9472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:9458400-9469400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:9463000-9479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:9463200-9471600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:9464400-9477600	Weak transcription	Lung	lung
13	chr12:9464600-9487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:9464800-9472200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:9464800-9472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:9464800-9490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:9465000-9469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:9465000-9472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:9465000-9473000	Weak transcription	Esophagus	oesophagus
20	chr12:9465000-9486400	Weak transcription	A549	lung
21	chr12:9465200-9471400	Weak transcription	Spleen	Spleen
22	chr12:9465400-9485200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:9465600-9471000	Weak transcription	Fetal Stomach	stomach
24	chr12:9465600-9472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:9465600-9477800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:9465600-9484000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:9465600-9488000	Weak transcription	Dnd41	blood
28	chr12:9466000-9484000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:9466200-9472400	Weak transcription	HMEC	breast
30	chr12:9466200-9484000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:9466400-9469000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:9466400-9470200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:9466400-9471600	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:9466400-9471600	Weak transcription	Fetal Thymus	thymus
35	chr12:9466400-9471800	Weak transcription	Thymus	Thymus
36	chr12:9466400-9472000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:9466400-9477400	Weak transcription	Fetal Lung	lung
38	chr12:9466400-9485200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:9466400-9487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:9466400-9487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:9466600-9470000	Weak transcription	HepG2	liver
42	chr12:9468400-9468600	Enhancers	Brain Hippocampus Middle	brain
43	chr12:9468400-9468800	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:9468800-9471000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:9470000-9472800	Enhancers	HepG2	liver

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