Variant report

Variant	nsv983371
Chromosome Location	chr12:120958806-120961915
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	HNF4A	chr12:120960376-120960714	HepG2	liver:	n/a	chr12:120960535-120960550 chr12:120960410-120960418
2	HNF4G	chr12:120960428-120960682	HepG2	liver:	n/a	chr12:120960536-120960551
3	POLR2A	chr12:120960583-120960829	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:120959091-120959092	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:120959153-120959179	K562	blood:	n/a	n/a
6	POLR2A	chr12:120960558-120960578	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:120958914-120959049	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:120960617-120960690	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:120960470-120960600	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120961423..120965252-chr12:120965336..120967844,7	MCF-7	breast:
2	chr12:120957931..120961422-chr12:120962483..120967009,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF9-2	chr12:120961155-120961246	NONHSAT031179
2	lnc-SRSF9-2	chr12:120960467-120960827	NONHSAT031179

Variant related genes	Relation type
COQ5	TF binding region
RPL29P24	TF binding region
ENSG00000110871	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs61945883	chr12:120958832-120958833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35534303	chr12:120958868-120958869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75408667	chr12:120958874-120958875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11065150	chr12:120958875-120958876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs192165951	chr12:120958891-120958892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184521194	chr12:120958909-120958910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556909635	chr12:120958929-120958930	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139541702	chr12:120958931-120958932	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369894872	chr12:120958945-120958946	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553232717	chr12:120958972-120958973	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527531643	chr12:120958983-120958984	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547151712	chr12:120958986-120958987	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567387134	chr12:120959029-120959030	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535978176	chr12:120959066-120959067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149690518	chr12:120959084-120959085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569311727	chr12:120959115-120959116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545360330	chr12:120959120-120959121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538107589	chr12:120959140-120959141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145466725	chr12:120959142-120959143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578108112	chr12:120959156-120959157	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs9795621	chr12:120959162-120959163	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11610160	chr12:120959204-120959205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
23	rs574052346	chr12:120959249-120959250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189749300	chr12:120959251-120959252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181235611	chr12:120959322-120959323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186243515	chr12:120959339-120959340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531782690	chr12:120959344-120959345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545321376	chr12:120959353-120959354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565209787	chr12:120959356-120959357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527475778	chr12:120959367-120959368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547532489	chr12:120959374-120959375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543523305	chr12:120959400-120959401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189523960	chr12:120959404-120959405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529746386	chr12:120959415-120959416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549473255	chr12:120959428-120959429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114949335	chr12:120959438-120959439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11065151	chr12:120959467-120959468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs61945884	chr12:120959481-120959482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75394968	chr12:120959483-120959484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572946168	chr12:120959484-120959485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558007397	chr12:120959559-120959560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1167695	chr12:120959575-120959576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs147948401	chr12:120959587-120959588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141838835	chr12:120959611-120959612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574163104	chr12:120959629-120959630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143777727	chr12:120959631-120959632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556744521	chr12:120959632-120959633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556327220	chr12:120959672-120959673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576486257	chr12:120959705-120959706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545450044	chr12:120959737-120959738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
5	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
8	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
9	chr12:120941800-120964000	Weak transcription	HUVEC	blood vessel
10	chr12:120942000-120962600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:120942400-120959800	Weak transcription	Fetal Kidney	kidney
12	chr12:120942800-120966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120943000-120963800	Weak transcription	K562	blood
14	chr12:120943000-120966200	Weak transcription	Fetal Heart	heart
15	chr12:120945600-120962000	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:120945800-120963600	Strong transcription	Fetal Stomach	stomach
17	chr12:120947200-120966000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:120948600-120966000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:120951600-120965600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120951800-120961600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:120951800-120962000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:120952400-120961200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:120953600-120966200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:120953800-120959800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:120954000-120963200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:120954000-120965800	Weak transcription	Small Intestine	intestine
27	chr12:120954200-120959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:120954200-120959800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:120954200-120960000	Weak transcription	HepG2	liver
30	chr12:120954200-120964000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:120954200-120966000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:120954200-120966200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:120954200-120966600	Weak transcription	Spleen	Spleen
34	chr12:120954400-120959800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:120954400-120963800	Weak transcription	NHDF-Ad	bronchial
36	chr12:120954400-120963800	Weak transcription	Osteobl	bone
37	chr12:120954400-120964000	Weak transcription	NHLF	lung
38	chr12:120954400-120966000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:120954400-120966000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:120954400-120966200	Weak transcription	Gastric	stomach
41	chr12:120954600-120959800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:120954600-120959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:120954600-120960000	Weak transcription	Primary T cells from cord blood	blood
44	chr12:120954600-120963800	Weak transcription	A549	lung
45	chr12:120954600-120964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:120954600-120964200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:120954600-120966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:120954600-120966000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:120954600-120966000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:120954600-120966000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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