Variant report

Variant	esv2591284
Chromosome Location	chr12:121321665-121323199
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	chr12:121319672..121322642-chr12:121322756..121324594,2	K562	blood:
2	chr12:121321411..121324329-chr12:121329045..121331159,2	MCF-7	breast:
3	chr12:121322045..121323969-chr12:121325111..121327661,2	K562	blood:
4	chr12:121322714..121325661-chr12:121340811..121343321,2	K562	blood:
5	chr12:121315603..121319201-chr12:121319262..121323037,3	K562	blood:
6	chr12:121316464..121318952-chr12:121321277..121324869,5	K562	blood:
7	chr12:121319672..121322642-chr12:121322756..121324594,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157837	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111792060	chr12:121321760-121321761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372835446	chr12:121321769-121321770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143153820	chr12:121321802-121321803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56675333	chr12:121321834-121321835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563203616	chr12:121321835-121321836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532144589	chr12:121321836-121321837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558899530	chr12:121321870-121321871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397761508	chr12:121321905-121321906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs33918080	chr12:121321912-121321913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551128239	chr12:121321921-121321922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143436234	chr12:121321947-121321948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528045810	chr12:121321963-121321964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148509528	chr12:121321978-121321979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577131153	chr12:121321993-121321994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572020337	chr12:121322038-121322039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555044141	chr12:121322045-121322046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142753811	chr12:121322047-121322048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550973828	chr12:121322103-121322104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548048261	chr12:121322113-121322114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567828321	chr12:121322168-121322169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536414210	chr12:121322182-121322183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556631560	chr12:121322185-121322186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150593115	chr12:121322208-121322209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530680086	chr12:121322214-121322215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1151867	chr12:121322268-121322269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538648235	chr12:121322346-121322347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550493983	chr12:121322348-121322349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61946371	chr12:121322351-121322352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201652001	chr12:121322354-121322355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538896019	chr12:121322355-121322356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572047631	chr12:121322384-121322385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374356140	chr12:121322411-121322412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371083023	chr12:121322436-121322437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192676465	chr12:121322445-121322446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554496054	chr12:121322447-121322448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574591316	chr12:121322502-121322503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542038842	chr12:121322524-121322525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184825891	chr12:121322542-121322543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80154759	chr12:121322566-121322567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146737821	chr12:121322567-121322568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532242428	chr12:121322584-121322585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368188012	chr12:121322596-121322597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184148576	chr12:121322598-121322599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144305547	chr12:121322602-121322603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3180716	chr12:121322608-121322609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77427526	chr12:121322609-121322610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35074232	chr12:121322611-121322612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144809706	chr12:121322612-121322613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74791415	chr12:121322613-121322614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559376922	chr12:121322616-121322617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:121304200-121329800	Weak transcription	K562	blood
7	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121304800-121322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:121304800-121324200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:121306000-121322800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:121306600-121326600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:121308800-121323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:121310800-121323600	Weak transcription	Fetal Thymus	thymus
15	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:121311200-121322400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:121311200-121323200	Weak transcription	Thymus	Thymus
18	chr12:121311400-121321800	Weak transcription	Primary T cells from cord blood	blood
19	chr12:121311400-121323000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:121311400-121323800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121312000-121323200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:121312000-121323400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:121312000-121323400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
25	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
26	chr12:121312800-121322800	Weak transcription	GM12878-XiMat	blood
27	chr12:121313000-121322600	Weak transcription	Brain Angular Gyrus	brain
28	chr12:121313000-121322800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:121313000-121323200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:121313000-121323400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:121313000-121325800	Weak transcription	Ovary	ovary
32	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:121313400-121323200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:121313400-121330000	Weak transcription	Psoas Muscle	Psoas
35	chr12:121313400-121332400	Weak transcription	Lung	lung
36	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
38	chr12:121313600-121322800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:121314000-121324000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:121315400-121322600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
43	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:121317600-121331400	Weak transcription	HepG2	liver
46	chr12:121317600-121339600	Weak transcription	HMEC	breast
47	chr12:121317800-121322800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:121317800-121324000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:121318000-121323000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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