Variant report

Variant	esv3357633
Chromosome Location	chr12:121097169-121101867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121094803..121097261-chr12:121099973..121102109,2	K562	blood:
2	chr12:121095512..121100910-chr12:121122531..121126551,5	MCF-7	breast:
3	chr12:121088300..121090817-chr12:121098579..121100889,2	MCF-7	breast:
4	chr12:121093807..121095684-chr12:121097448..121099192,2	K562	blood:
5	chr12:121097218..121098890-chr12:121123292..121124824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157782	chromatin interactions
ENSG00000110917	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs186713879	chr12:121097173-121097174	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116669145	chr12:121097174-121097175	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191094528	chr12:121097179-121097180	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531553006	chr12:121097194-121097195	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551123368	chr12:121097213-121097214	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77696527	chr12:121097235-121097236	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185737080	chr12:121097238-121097239	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189015232	chr12:121097272-121097273	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11396469	chr12:121097304-121097305	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397767266	chr12:121097309-121097310	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566959947	chr12:121097373-121097374	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7302786	chr12:121097447-121097448	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3889470	chr12:121097450-121097451	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569415569	chr12:121097455-121097456	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368103344	chr12:121097483-121097484	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3889469	chr12:121097487-121097488	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113412415	chr12:121097499-121097500	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7302002	chr12:121097573-121097574	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs3850512	chr12:121097602-121097603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540769449	chr12:121097616-121097617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529584	chr12:121097622-121097623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs199748636	chr12:121097636-121097637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs3850511	chr12:121097640-121097641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142689476	chr12:121097649-121097650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374211681	chr12:121097651-121097652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562814022	chr12:121097652-121097653	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369919458	chr12:121097658-121097659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3999406	chr12:121097659-121097660	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373172687	chr12:121097724-121097725	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200270630	chr12:121097735-121097736	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377611119	chr12:121097759-121097760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544804813	chr12:121097775-121097776	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564782374	chr12:121097784-121097785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527470065	chr12:121097833-121097834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147333683	chr12:121097850-121097851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567225571	chr12:121097855-121097856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192970646	chr12:121097874-121097875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141020181	chr12:121097892-121097893	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185183195	chr12:121097894-121097895	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569537509	chr12:121097955-121097956	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201173251	chr12:121097956-121097957	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558481957	chr12:121097957-121097958	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188950475	chr12:121097974-121097975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147505752	chr12:121098024-121098025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117115054	chr12:121098036-121098037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564070934	chr12:121098099-121098100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554329994	chr12:121098142-121098143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375117927	chr12:121098161-121098162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574015083	chr12:121098167-121098168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377452593	chr12:121098176-121098177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:121092000-121098000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
8	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung
10	chr12:121095600-121104400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121096000-121097600	Weak transcription	Fetal Brain Female	brain
12	chr12:121096200-121105800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:121096400-121097200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:121096400-121097400	Enhancers	Right Ventricle	heart
15	chr12:121096400-121098200	Enhancers	Spleen	Spleen
16	chr12:121096600-121097200	Enhancers	Left Ventricle	heart
17	chr12:121096600-121097200	Flanking Active TSS	HepG2	liver
18	chr12:121096600-121097600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:121096600-121097600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:121096600-121097800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:121096600-121100400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:121096800-121097200	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr12:121096800-121097200	Enhancers	Fetal Intestine Large	intestine
24	chr12:121096800-121097400	Enhancers	Colonic Mucosa	Colon
25	chr12:121097000-121097200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:121097000-121097200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:121097000-121100200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr12:121097200-121098400	Weak transcription	Left Ventricle	heart
29	chr12:121097200-121099200	Strong transcription	Fetal Stomach	stomach
30	chr12:121097200-121099800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:121097200-121107000	Weak transcription	Adipose Nuclei	Adipose
32	chr12:121097400-121097600	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr12:121097600-121097800	Strong transcription	Fetal Brain Female	brain
34	chr12:121097600-121100600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:121097600-121107000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:121097800-121106800	Weak transcription	Fetal Brain Female	brain
37	chr12:121098000-121100000	Strong transcription	Brain Angular Gyrus	brain
38	chr12:121098400-121099200	Strong transcription	Left Ventricle	heart
39	chr12:121099200-121099800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:121099200-121104000	Weak transcription	Fetal Stomach	stomach
41	chr12:121099200-121107000	Weak transcription	Left Ventricle	heart
42	chr12:121099800-121100000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr12:121099800-121101800	Enhancers	GM12878-XiMat	blood
44	chr12:121099800-121104400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:121100000-121100200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:121100000-121102200	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:121100000-121107000	Weak transcription	Brain Angular Gyrus	brain
48	chr12:121100000-121107600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:121100200-121106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:121100200-121107000	Weak transcription	Brain Inferior Temporal Lobe	brain

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