Variant report

Variant	esv17508
Chromosome Location	chr12:121602747-121604132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121603770..121605309-chr12:121647342..121649708,2	MCF-7	breast:
2	chr12:121592630..121595667-chr12:121601270..121604261,3	K562	blood:
3	chr12:121603669..121605822-chr12:121647328..121649400,2	MCF-7	breast:
4	chr12:121602385..121605208-chr12:121610974..121613689,2	MCF-7	breast:
5	chr12:121596042..121597903-chr12:121602917..121605232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571335727	chr12:121602758-121602759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs208302	chr12:121602760-121602761	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145428496	chr12:121602765-121602766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557051414	chr12:121602778-121602779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147684403	chr12:121602801-121602802	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140940661	chr12:121602817-121602818	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs208303	chr12:121602825-121602826	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550401568	chr12:121602847-121602848	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188724194	chr12:121602856-121602857	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572806164	chr12:121602888-121602889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192282110	chr12:121602922-121602923	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535586481	chr12:121602986-121602987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558546455	chr12:121603027-121603028	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs208304	chr12:121603053-121603054	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544359042	chr12:121603076-121603077	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111523460	chr12:121603099-121603100	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368180352	chr12:121603103-121603104	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563045817	chr12:121603110-121603111	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199671791	chr12:121603114-121603115	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530223556	chr12:121603115-121603116	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs34430020	chr12:121603117-121603118	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs507085	chr12:121603118-121603119	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201897396	chr12:121603119-121603120	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71453538	chr12:121603122-121603123	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200624061	chr12:121603142-121603143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201604423	chr12:121603160-121603161	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200133565	chr12:121603181-121603182	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28360451	chr12:121603182-121603183	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112631221	chr12:121603187-121603188	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201666360	chr12:121603189-121603190	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546584803	chr12:121603191-121603192	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28360452	chr12:121603198-121603199	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191820728	chr12:121603213-121603214	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201275023	chr12:121603215-121603216	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202146674	chr12:121603223-121603224	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200294314	chr12:121603224-121603225	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200957328	chr12:121603225-121603226	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148061667	chr12:121603231-121603232	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184565788	chr12:121603234-121603235	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140915863	chr12:121603240-121603241	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201409523	chr12:121603241-121603242	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148900004	chr12:121603247-121603248	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200809092	chr12:121603273-121603274	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374108236	chr12:121603275-121603276	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28969472	chr12:121603293-121603294	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76481706	chr12:121603294-121603295	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28969473	chr12:121603385-121603386	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs208305	chr12:121603469-121603470	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs145488378	chr12:121603481-121603482	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571010859	chr12:121603497-121603498	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic 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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:121594000-121612600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
11	chr12:121594600-121605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:121595200-121606200	Strong transcription	Brain Angular Gyrus	brain
13	chr12:121596000-121614800	Weak transcription	Gastric	stomach
14	chr12:121596200-121602800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr12:121596200-121603200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:121596200-121603200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
18	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
20	chr12:121596400-121603400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121596400-121606800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:121596400-121609000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:121596400-121609400	Strong transcription	Brain Hippocampus Middle	brain
24	chr12:121596400-121610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:121597600-121603600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:121597800-121603000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:121597800-121606600	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:121598200-121604200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:121598400-121604800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:121598400-121605800	Strong transcription	Brain Substantia Nigra	brain
33	chr12:121598400-121606200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:121598600-121605400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:121598600-121610400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121599000-121603200	Weak transcription	Aorta	Aorta
37	chr12:121599000-121603400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
39	chr12:121599600-121605600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:121599600-121606000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:121599800-121605800	Strong transcription	Ovary	ovary
42	chr12:121599800-121606600	Strong transcription	Liver	Liver
43	chr12:121600000-121605200	Strong transcription	Spleen	Spleen
44	chr12:121600000-121605400	Strong transcription	Primary T cells from cord blood	blood
45	chr12:121600000-121610200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:121600200-121604400	Strong transcription	Lung	lung
47	chr12:121600600-121603400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:121600600-121603400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:121600800-121603000	Weak transcription	Pancreas	Pancrea
50	chr12:121600800-121603400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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