Variant report

Variant	esv3324153
Chromosome Location	chr12:50443735-50446133
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50442392..50444531-chr12:50445010..50447664,2	K562	blood:
2	chr12:50441963..50444884-chr12:50445387..50446910,2	MCF-7	breast:
3	chr12:50445380..50449245-chr12:50449968..50451833,3	MCF-7	breast:
4	chr12:50432660..50433175-chr12:50444120..50444802,2	K562	blood:
5	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:
6	chr12:50440879..50447724-chr12:50448390..50454714,11	K562	blood:
7	chr12:50442392..50444531-chr12:50445010..50447664,2	K562	blood:
8	chr12:50424617..50427330-chr12:50443083..50445011,2	MCF-7	breast:
9	chr12:50445040..50447038-chr12:50470229..50471817,2	K562	blood:
10	chr12:50435507..50437968-chr12:50442114..50444463,3	MCF-7	breast:
11	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
12	chr12:50441963..50444884-chr12:50445387..50446910,2	MCF-7	breast:
13	chr12:50444648..50446758-chr12:50452831..50455607,2	K562	blood:
14	chr12:50443166..50446140-chr12:50448387..50451467,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161800	chromatin interactions
ENSG00000110881	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376359107	chr12:50443741-50443742	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550265771	chr12:50443837-50443838	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559009583	chr12:50443847-50443848	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35169511	chr12:50443874-50443875	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575777091	chr12:50443886-50443887	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538455003	chr12:50443897-50443898	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142421836	chr12:50443966-50443967	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533155758	chr12:50443985-50443986	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568824311	chr12:50443986-50443987	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376427816	chr12:50443998-50443999	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193060071	chr12:50444016-50444017	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540914669	chr12:50444080-50444081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537400344	chr12:50444136-50444137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74090027	chr12:50444146-50444147	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs58384360	chr12:50444163-50444164	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78110444	chr12:50444164-50444165	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11169262	chr12:50444165-50444166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12322721	chr12:50444167-50444168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1798045	chr12:50444174-50444175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560586675	chr12:50444192-50444193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576778898	chr12:50444282-50444283	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151297538	chr12:50444292-50444293	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114454805	chr12:50444315-50444316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150829796	chr12:50444345-50444346	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531292174	chr12:50444348-50444349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548011445	chr12:50444352-50444353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561540573	chr12:50444354-50444355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539264347	chr12:50444418-50444419	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs9805139	chr12:50444506-50444507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527620511	chr12:50444526-50444527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547679803	chr12:50444539-50444540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12315863	chr12:50444577-50444578	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539042735	chr12:50444585-50444586	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552251181	chr12:50444750-50444751	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371977961	chr12:50444844-50444845	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368684420	chr12:50444929-50444930	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs57777059	chr12:50444947-50444948	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538318140	chr12:50444991-50444992	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs557871650	chr12:50444993-50444994	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548803114	chr12:50445010-50445011	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575096857	chr12:50445047-50445048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184025812	chr12:50445067-50445068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554472779	chr12:50445134-50445135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189108474	chr12:50445156-50445157	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116195374	chr12:50445182-50445183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545818503	chr12:50445185-50445186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115014634	chr12:50445211-50445212	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193041987	chr12:50445215-50445216	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541514638	chr12:50445234-50445235	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11169263	chr12:50445237-50445238	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50433400-50443800	Weak transcription	Spleen	Spleen
2	chr12:50442600-50444000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:50443000-50447200	Enhancers	Fetal Brain Male	brain
4	chr12:50443200-50443800	Enhancers	Brain Germinal Matrix	brain
5	chr12:50443200-50444000	Enhancers	K562	blood
6	chr12:50443400-50444000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr12:50443400-50444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:50443400-50444000	Enhancers	Fetal Brain Female	brain
9	chr12:50443400-50444000	Enhancers	Fetal Heart	heart
10	chr12:50443400-50444000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr12:50443400-50444000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:50443400-50444200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:50443400-50445000	Enhancers	Stomach Mucosa	stomach
14	chr12:50443400-50445400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr12:50443400-50445800	Enhancers	Placenta	Placenta
16	chr12:50443600-50443800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr12:50443600-50443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:50443600-50443800	Enhancers	Pancreas	Pancrea
19	chr12:50443600-50443800	Enhancers	Right Atrium	heart
20	chr12:50443600-50444000	Enhancers	Colon Smooth Muscle	Colon
21	chr12:50443600-50444000	Enhancers	Fetal Lung	lung
22	chr12:50443600-50444000	Bivalent Enhancer	HepG2	liver
23	chr12:50443600-50444200	Enhancers	Brain Hippocampus Middle	brain
24	chr12:50443600-50444200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr12:50443600-50444400	Enhancers	Gastric	stomach
26	chr12:50443600-50445200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:50443800-50444000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr12:50443800-50444000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:50443800-50444000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr12:50443800-50444000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:50443800-50444000	Enhancers	Adipose Nuclei	Adipose
32	chr12:50443800-50444000	Active TSS	Brain Substantia Nigra	brain
33	chr12:50443800-50444000	Flanking Active TSS	Pancreas	Pancrea
34	chr12:50443800-50444200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:50443800-50444200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:50443800-50444200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr12:50443800-50444200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:50443800-50444200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:50443800-50444200	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:50443800-50444200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:50443800-50444200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr12:50443800-50444200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr12:50443800-50444200	Bivalent Enhancer	Fetal Thymus	thymus
44	chr12:50443800-50444200	Enhancers	Ovary	ovary
45	chr12:50443800-50444200	Genic enhancers	Right Atrium	heart
46	chr12:50443800-50444200	Enhancers	Right Ventricle	heart
47	chr12:50443800-50444400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr12:50443800-50444400	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr12:50443800-50444400	Bivalent Enhancer	Left Ventricle	heart
50	chr12:50443800-50444400	Enhancers	Lung	lung

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