Variant report

Variant	esv3441772
Chromosome Location	chr12:121267419-121269317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121265512..121268113-chr12:121272336..121276095,3	MCF-7	breast:
2	chr12:121251970..121254055-chr12:121269166..121270703,2	K562	blood:
3	chr12:121266923..121268725-chr12:121282952..121284872,3	K562	blood:
4	chr12:121267037..121268725-chr12:121282952..121284872,2	K562	blood:
5	chr12:121239385..121241045-chr12:121266410..121269390,2	K562	blood:
6	chr12:121261392..121264273-chr12:121265807..121267434,2	K562	blood:
7	chr12:121267888..121269471-chr12:121280210..121282195,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157837	chromatin interactions
ENSG00000213137	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191657625	chr12:121267446-121267447	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149562076	chr12:121267469-121267470	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534252624	chr12:121267544-121267545	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554032987	chr12:121267545-121267546	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573941410	chr12:121267563-121267564	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527740446	chr12:121267564-121267565	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536806023	chr12:121267567-121267568	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556399084	chr12:121267587-121267588	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547882473	chr12:121267623-121267624	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576454446	chr12:121267670-121267671	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs146168988	chr12:121267671-121267672	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540016209	chr12:121267702-121267703	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138889325	chr12:121267721-121267722	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570353925	chr12:121267722-121267723	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182648885	chr12:121267723-121267724	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372982763	chr12:121267728-121267729	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200419825	chr12:121267734-121267735	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561122127	chr12:121267759-121267760	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs187723879	chr12:121267762-121267763	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551284070	chr12:121267778-121267779	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35847324	chr12:121267798-121267799	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77516125	chr12:121267799-121267800	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563258033	chr12:121267815-121267816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs811005	chr12:121267836-121267837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369425492	chr12:121267841-121267842	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567087124	chr12:121267853-121267854	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142814818	chr12:121267863-121267864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565376533	chr12:121267923-121267924	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534313932	chr12:121267968-121267969	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547687802	chr12:121268001-121268002	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567578474	chr12:121268011-121268012	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374582502	chr12:121268018-121268019	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193144144	chr12:121268026-121268027	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12825746	chr12:121268033-121268034	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs576545555	chr12:121268066-121268067	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2649992	chr12:121268097-121268098	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28485206	chr12:121268360-121268361	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151140429	chr12:121268383-121268384	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372836211	chr12:121268384-121268385	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377702278	chr12:121268385-121268386	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377406347	chr12:121268409-121268410	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147398069	chr12:121268436-121268437	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559093131	chr12:121268501-121268502	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs694303	chr12:121268624-121268625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs572017800	chr12:121268734-121268735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185685688	chr12:121268784-121268785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374828915	chr12:121268814-121268815	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372467730	chr12:121268849-121268850	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375855863	chr12:121268873-121268874	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189058616	chr12:121268887-121268888	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	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
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121222200-121274000	Weak transcription	Lung	lung
2	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
3	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:121248800-121268600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:121248800-121270400	Weak transcription	Primary B cells from cord blood	blood
7	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:121248800-121271800	Weak transcription	Dnd41	blood
9	chr12:121253800-121268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:121254000-121268600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:121255800-121270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:121260200-121268800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:121260400-121270400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:121260600-121268600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:121260800-121272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:121261400-121268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:121261400-121269400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:121261600-121267800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:121261600-121268400	Weak transcription	Fetal Kidney	kidney
20	chr12:121261600-121268600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:121261600-121268600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:121261600-121268600	Weak transcription	Adipose Nuclei	Adipose
23	chr12:121261600-121268600	Weak transcription	Right Atrium	heart
24	chr12:121261600-121268600	Weak transcription	Right Ventricle	heart
25	chr12:121261600-121268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:121261600-121268800	Weak transcription	Fetal Brain Female	brain
27	chr12:121261600-121268800	Weak transcription	Small Intestine	intestine
28	chr12:121261600-121268800	Weak transcription	Thymus	Thymus
29	chr12:121261600-121269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:121261600-121269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:121261600-121270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:121261600-121274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:121263600-121268600	Enhancers	A549	lung
34	chr12:121263600-121268800	Weak transcription	Primary T cells from cord blood	blood
35	chr12:121263600-121269200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:121264400-121268400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:121264400-121268600	Weak transcription	Aorta	Aorta
38	chr12:121264400-121268600	Weak transcription	Left Ventricle	heart
39	chr12:121264400-121271000	Weak transcription	Spleen	Spleen
40	chr12:121264600-121268400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:121264600-121272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:121264800-121268600	Weak transcription	Fetal Heart	heart
43	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
44	chr12:121265200-121272000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:121265400-121268600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:121265400-121273800	Enhancers	Brain Substantia Nigra	brain
47	chr12:121265400-121274200	Enhancers	Brain Angular Gyrus	brain
48	chr12:121265600-121268600	Weak transcription	Ovary	ovary
49	chr12:121265600-121268600	Weak transcription	Psoas Muscle	Psoas
50	chr12:121265600-121268800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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