Variant report

Variant	esv3498707
Chromosome Location	chr12:122849554-122850251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122847513..122850050-chr12:122850104..122851693,3	K562	blood:
2	chr12:122847930..122850385-chr12:123009903..123011569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214760	chromatin interactions
ENSG00000130779	chromatin interactions
ENSG00000111011	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112564325	chr12:122849555-122849556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141248153	chr12:122849588-122849589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200915086	chr12:122849589-122849590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530429125	chr12:122849627-122849628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146989977	chr12:122849630-122849631	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530529541	chr12:122849638-122849639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550617336	chr12:122849654-122849655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368243382	chr12:122849664-122849665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199974353	chr12:122849665-122849666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114387181	chr12:122849800-122849801	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527916277	chr12:122849840-122849841	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552458002	chr12:122849860-122849861	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200530713	chr12:122849929-122849930	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138174706	chr12:122849941-122849942	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532062274	chr12:122849969-122849970	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190753389	chr12:122849970-122849971	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373162200	chr12:122849992-122849993	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568551575	chr12:122850005-122850006	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374853497	chr12:122850086-122850087	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535841292	chr12:122850095-122850096	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7976580	chr12:122850103-122850104	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566414766	chr12:122850146-122850147	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs534006819	chr12:122850163-122850164	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs558440785	chr12:122850189-122850190	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs34314261	chr12:122850224-122850225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs397724603	chr12:122850239-122850240	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
3	chr12:122837000-122851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
6	chr12:122838600-122852200	Weak transcription	Small Intestine	intestine
7	chr12:122839400-122850200	Weak transcription	Right Atrium	heart
8	chr12:122839600-122851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
11	chr12:122840000-122852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122840200-122851000	Weak transcription	NH-A	brain
15	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
17	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122844600-122851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:122846000-122851000	Weak transcription	HMEC	breast
22	chr12:122846000-122851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:122846000-122851200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:122846000-122851400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:122846000-122854000	Weak transcription	GM12878-XiMat	blood
26	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
28	chr12:122846200-122850000	Weak transcription	HUVEC	blood vessel
29	chr12:122846200-122851000	Weak transcription	K562	blood
30	chr12:122846200-122851000	Weak transcription	Osteobl	bone
31	chr12:122846200-122851200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122846200-122851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:122846200-122856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:122846200-122856000	Weak transcription	Right Ventricle	heart
35	chr12:122846200-122859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
38	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122846400-122850800	Weak transcription	Hela-S3	cervix
40	chr12:122846400-122851000	Weak transcription	HepG2	liver
41	chr12:122846400-122851000	Weak transcription	NHEK	skin
42	chr12:122846400-122851200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:122846400-122851200	Weak transcription	HSMM	muscle
44	chr12:122846400-122852400	Weak transcription	Ovary	ovary
45	chr12:122846400-122853800	Weak transcription	Gastric	stomach
46	chr12:122846400-122855600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:122846400-122856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:122846400-122860400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:122846600-122861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:122847800-122851200	Weak transcription	Brain Cingulate Gyrus	brain

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