Variant report

Variant	nsv983275
Chromosome Location	chr12:9577193-9596751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:9593967-9594189	GM12878	blood:	n/a	n/a
2	BATF	chr12:9594018-9594252	GM12878	blood:	n/a	n/a
3	CTCF	chr12:9579831-9579849	GM10248	blood:	n/a	n/a
4	CTCF	chr12:9578848-9578907	GM10248	blood:	n/a	n/a
5	CTCF	chr12:9587065-9587133	LNCaP	prostate:	n/a	n/a
6	CTCF	chr12:9589179-9589277	GM13976	blood:	n/a	n/a
7	CTCF	chr12:9596449-9596541	GM10266	blood:	n/a	chr12:9596464-9596480
8	CTCF	chr12:9585323-9585349	LNCaP	prostate:	n/a	n/a
9	CTCF	chr12:9585879-9585945	Lung_OC	lung:	n/a	n/a
10	CTCF	chr12:9587552-9587574	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr12:9587720-9587809	GM20000	blood:	n/a	n/a
12	CTCF	chr12:9581045-9581148	LNCaP	prostate:	n/a	n/a
13	CTCF	chr12:9578659-9578729	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:9592702-9592774	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:9579346-9579397	GM13976	blood:	n/a	n/a
16	CTCF	chr12:9587536-9587576	GM20000	blood:	n/a	n/a
17	EBF1	chr12:9594011-9594269	GM12878	blood:	n/a	n/a
18	EBF1	chr12:9593910-9594251	GM12878	blood:	n/a	n/a
19	EBF1	chr12:9594434-9594718	GM12878	blood:	n/a	n/a
20	IRF4	chr12:9593846-9594223	GM12878	blood:	n/a	n/a
21	PAX5	chr12:9595633-9596015	GM12878	blood:	n/a	chr12:9595980-9595989
22	PAX5	chr12:9595679-9595978	GM12878	blood:	n/a	n/a
23	PBX3	chr12:9591085-9591360	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:9589725-9590082	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:9584548-9584904	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:9586399-9587762	GM12892	blood:	n/a	n/a
27	POLR2A	chr12:9586326-9586767	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:9588060-9589208	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:9580215-9580777	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:9586007-9586188	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:9583103-9583403	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:9581783-9582042	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:9582470-9583017	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:9578611-9578809	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:9579180-9579243	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:9588230-9588627	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr12:9582342-9583133	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:9595542-9595902	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:9578540-9578935	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:9585004-9585222	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:9582654-9582724	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:9586810-9586886	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:9584215-9584426	HepG2	liver:	n/a	n/a
44	POLR2A	chr12:9588314-9589025	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:9581756-9582257	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:9587954-9588613	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:9586995-9587630	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:9590207-9590265	K562	blood:	n/a	n/a
49	POLR2A	chr12:9578742-9578976	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:9577708-9579776	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRB1-3	chr12:9596676-9596721	NONHSAT026827
2	lnc-KLRB1-3	chr12:9596229-9596278	NONHSAT026827
3	lnc-KLRB1-3	chr12:9596155-9596205	NONHSAT026827

No data

Variant related genes	Relation type
ENSG00000212432	TF binding region

Extended variants
information (count: 390 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186442260	chr12:9577198-9577199	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369826628	chr12:9577225-9577226	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138017149	chr12:9577246-9577247	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115825703	chr12:9577250-9577251	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370289424	chr12:9577256-9577257	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374989444	chr12:9577261-9577262	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12314134	chr12:9577291-9577292	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7296629	chr12:9577310-9577311	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528374821	chr12:9577422-9577423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386375567	chr12:9577423-9577424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113555009	chr12:9577425-9577426	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10690083	chr12:9577439-9577440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60749113	chr12:9577508-9577509	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140280838	chr12:9577622-9577623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199664572	chr12:9577670-9577671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141263894	chr12:9577683-9577684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554835668	chr12:9577710-9577711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112323800	chr12:9577734-9577735	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56341518	chr12:9577885-9577886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201150453	chr12:9577992-9577993	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147150188	chr12:9578036-9578037	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201763584	chr12:9578055-9578056	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377000694	chr12:9578132-9578133	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370958599	chr12:9578137-9578138	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188907648	chr12:9578140-9578141	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116562190	chr12:9578143-9578144	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181647678	chr12:9578158-9578159	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368327137	chr12:9578163-9578164	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372018133	chr12:9578179-9578180	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76671194	chr12:9578197-9578198	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185592620	chr12:9578220-9578221	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143683019	chr12:9578234-9578235	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191531663	chr12:9578275-9578276	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146796043	chr12:9578513-9578514	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554245775	chr12:9578522-9578523	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148935434	chr12:9578570-9578571	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10843759	chr12:9578589-9578590	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76934509	chr12:9578619-9578620	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61914674	chr12:9578696-9578697	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376628094	chr12:9578893-9578894	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78084511	chr12:9578923-9578924	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182514846	chr12:9578935-9578936	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370550703	chr12:9578962-9578963	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186246470	chr12:9578966-9578967	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576357678	chr12:9578978-9578979	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371478129	chr12:9578984-9578985	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74062847	chr12:9578987-9578988	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs139233910	chr12:9578990-9578991	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377635345	chr12:9579019-9579020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547633602	chr12:9579044-9579045	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:9559200-9599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:9559800-9577800	Weak transcription	A549	lung
4	chr12:9560000-9584000	Weak transcription	Right Ventricle	heart
5	chr12:9560000-9599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:9560200-9599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:9560400-9599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:9560400-9599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:9564200-9584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:9564800-9578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:9564800-9586000	Weak transcription	Fetal Lung	lung
12	chr12:9565000-9599800	Weak transcription	Esophagus	oesophagus
13	chr12:9566200-9577200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:9566800-9580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:9566800-9580600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:9566800-9592600	Weak transcription	Pancreas	Pancrea
17	chr12:9567000-9587000	Weak transcription	Primary T cells from cord blood	blood
18	chr12:9567000-9599400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:9567000-9599400	Weak transcription	HepG2	liver
20	chr12:9567000-9599600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:9567000-9599800	Weak transcription	Spleen	Spleen
22	chr12:9567200-9599800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:9569200-9592200	Weak transcription	Adipose Nuclei	Adipose
24	chr12:9569400-9599800	Weak transcription	Gastric	stomach
25	chr12:9570400-9591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:9570600-9590200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:9571000-9599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:9571200-9578400	Weak transcription	Fetal Intestine Large	intestine
29	chr12:9571600-9580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:9572400-9577400	Strong transcription	Fetal Thymus	thymus
31	chr12:9572400-9600400	Weak transcription	Small Intestine	intestine
32	chr12:9572600-9599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:9573200-9593400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:9573400-9599200	Weak transcription	Hela-S3	cervix
35	chr12:9573600-9588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:9573600-9599600	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:9574000-9580400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:9574200-9581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:9574200-9582600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:9574200-9590600	Weak transcription	Thymus	Thymus
41	chr12:9574400-9577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:9575200-9587800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:9575400-9583600	Strong transcription	Dnd41	blood
44	chr12:9575400-9586000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:9575400-9587000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:9575600-9580800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:9575800-9583200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:9576000-9577200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:9576000-9577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:9576000-9579200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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