Variant report

Variant	esv3353245
Chromosome Location	chr12:32494335-32496183
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	chr12:32492207..32495793-chr12:32495983..32500646,4	K562	blood:
2	chr12:32492207..32495793-chr12:32495983..32500646,4	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559410637	chr12:32494397-32494398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77402997	chr12:32494398-32494399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397797666	chr12:32494413-32494414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142331323	chr12:32494489-32494490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553922571	chr12:32494513-32494514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191780018	chr12:32494517-32494518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535142772	chr12:32494529-32494530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554952417	chr12:32494633-32494634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10771939	chr12:32494691-32494692	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543859815	chr12:32494715-32494716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7955481	chr12:32494755-32494756	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117226284	chr12:32494810-32494811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116532895	chr12:32494816-32494817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs901600	chr12:32494853-32494854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529418508	chr12:32494855-32494856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12427385	chr12:32494857-32494858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369875567	chr12:32494875-32494876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115985214	chr12:32494906-32494907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562840750	chr12:32494984-32494985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373815015	chr12:32495011-32495012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5797472	chr12:32495061-32495062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397838690	chr12:32495062-32495063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397849899	chr12:32495070-32495071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527256807	chr12:32495080-32495081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551466809	chr12:32495087-32495088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3075990	chr12:32495098-32495099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2388986	chr12:32495102-32495103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571935453	chr12:32495107-32495108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5797473	chr12:32495111-32495112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200952681	chr12:32495117-32495118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2388985	chr12:32495118-32495119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372750407	chr12:32495126-32495127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2388984	chr12:32495128-32495129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375946356	chr12:32495138-32495139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565106536	chr12:32495139-32495140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2388983	chr12:32495140-32495141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3075972	chr12:32495142-32495143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72448216	chr12:32495164-32495165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34413318	chr12:32495165-32495166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35309693	chr12:32495166-32495167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35994576	chr12:32495167-32495168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202010978	chr12:32495186-32495187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1809888	chr12:32495198-32495199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547600270	chr12:32495225-32495226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150745227	chr12:32495242-32495243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182860632	chr12:32495246-32495247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549749882	chr12:32495249-32495250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139838260	chr12:32495250-32495251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200418729	chr12:32495282-32495283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568845075	chr12:32495299-32495300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:32460400-32514600	Weak transcription	HMEC	breast
3	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:32475800-32495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
11	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
13	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:32479400-32494400	Weak transcription	Right Ventricle	heart
15	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
16	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:32481400-32511800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:32481600-32496600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:32481600-32497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:32481600-32501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:32481800-32495800	Weak transcription	Left Ventricle	heart
22	chr12:32482000-32496000	Weak transcription	HSMM	muscle
23	chr12:32484400-32515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:32484800-32496200	Weak transcription	A549	lung
25	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
26	chr12:32486000-32510800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:32486200-32494800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:32486800-32496400	Weak transcription	HUVEC	blood vessel
29	chr12:32487200-32502400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:32489200-32498600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:32490000-32496600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:32490200-32494800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:32490600-32495600	Weak transcription	NHEK	skin
34	chr12:32490800-32497200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:32490800-32497800	Weak transcription	Spleen	Spleen
36	chr12:32490800-32498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:32490800-32499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:32490800-32518600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:32492000-32503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:32492200-32495400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:32492200-32496400	Weak transcription	Dnd41	blood
42	chr12:32492200-32498600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:32492200-32502600	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:32492200-32505200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:32492200-32514000	Weak transcription	Aorta	Aorta
46	chr12:32492200-32514200	Weak transcription	Lung	lung
47	chr12:32492200-32518600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:32492200-32518600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:32492200-32522000	Weak transcription	Fetal Stomach	stomach
50	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood

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