Variant report

Variant	nsv826356
Chromosome Location	chr12:44725069-44783443
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:44755908..44757625-chr12:44780737..44782461,2	MCF-7	breast:
2	chr12:44771877..44773660-chr12:44776294..44779206,2	K562	blood:
3	chr12:44755908..44757625-chr12:44780737..44782461,2	MCF-7	breast:
4	chr12:44763525..44765567-chr12:44767593..44769212,2	K562	blood:
5	chr12:44771877..44773660-chr12:44776294..44779206,2	K562	blood:
6	chr12:44763525..44765567-chr12:44767593..44769212,2	K562	blood:
7	chr12:44773541..44775269-chr12:44780927..44783854,2	MCF-7	breast:
8	chr12:44782966..44785826-chr12:44799216..44800992,2	MCF-7	breast:
9	chr12:44773541..44775269-chr12:44780927..44783854,2	MCF-7	breast:
10	chr12:44778148..44778873-chr12:127671997..127672597,2	K562	blood:

No data

Extended variants
information (count: 2023 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2023 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557616815	chr12:44725081-44725082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528225409	chr12:44725122-44725123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149879172	chr12:44725154-44725155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373558227	chr12:44725164-44725165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532731557	chr12:44725192-44725193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs840770	chr12:44725223-44725224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538911738	chr12:44725236-44725237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557004859	chr12:44725344-44725345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369629584	chr12:44725346-44725347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568864208	chr12:44725442-44725443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188540222	chr12:44725471-44725472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576080391	chr12:44725526-44725527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541224304	chr12:44725534-44725535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536707459	chr12:44725584-44725585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375022525	chr12:44725649-44725650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144872276	chr12:44725707-44725708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534991612	chr12:44725722-44725723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34836667	chr12:44725725-44725726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541236508	chr12:44725748-44725749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140443500	chr12:44725769-44725770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17094458	chr12:44725772-44725773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144283316	chr12:44725798-44725799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193146620	chr12:44725802-44725803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184276009	chr12:44725811-44725812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547796775	chr12:44725814-44725815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188613254	chr12:44725823-44725824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191659533	chr12:44725844-44725845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183870316	chr12:44725887-44725888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189263013	chr12:44725932-44725933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113139758	chr12:44725947-44725948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571401093	chr12:44725954-44725955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532251001	chr12:44725975-44725976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182153303	chr12:44725976-44725977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187338075	chr12:44725986-44725987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553596774	chr12:44726068-44726069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554626410	chr12:44726115-44726116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566536707	chr12:44726125-44726126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74085108	chr12:44726161-44726162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552243747	chr12:44726223-44726224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533870159	chr12:44726224-44726225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190112358	chr12:44726242-44726243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17094461	chr12:44726252-44726253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545282370	chr12:44726259-44726260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557187079	chr12:44726320-44726321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181496922	chr12:44726392-44726393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542580650	chr12:44726400-44726401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578126828	chr12:44726407-44726408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528498445	chr12:44726459-44726460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34633299	chr12:44726495-44726496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67672838	chr12:44726496-44726497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
2	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
3	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44724400-44726000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:44724600-44725600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:44725400-44725600	Enhancers	Fetal Lung	lung
8	chr12:44725800-44726000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:44728200-44728400	Active TSS	Esophagus	oesophagus
10	chr12:44728200-44729000	Enhancers	Placenta	Placenta
11	chr12:44728400-44744800	Weak transcription	Esophagus	oesophagus
12	chr12:44732400-44735600	Weak transcription	Ovary	ovary
13	chr12:44732600-44732800	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:44732600-44733000	Enhancers	HMEC	breast
15	chr12:44732800-44733200	Enhancers	Colon Smooth Muscle	Colon
16	chr12:44732800-44736000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:44733200-44734200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:44733800-44736000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:44734000-44734200	Enhancers	Fetal Kidney	kidney
20	chr12:44734000-44734800	Enhancers	Fetal Brain Female	brain
21	chr12:44734000-44734800	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:44734200-44734800	Enhancers	Fetal Brain Male	brain
23	chr12:44734200-44736400	Enhancers	Colon Smooth Muscle	Colon
24	chr12:44734400-44735600	Weak transcription	Fetal Kidney	kidney
25	chr12:44734800-44735600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:44735200-44736600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:44735600-44736200	Enhancers	Ovary	ovary
28	chr12:44735600-44736400	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:44735600-44736800	Enhancers	Fetal Kidney	kidney
30	chr12:44735800-44736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:44736000-44736400	Enhancers	Fetal Intestine Small	intestine
32	chr12:44736000-44736400	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:44736000-44736800	Enhancers	Pancreas	Pancrea
34	chr12:44736000-44738400	Enhancers	Fetal Intestine Large	intestine
35	chr12:44736400-44740400	Weak transcription	Fetal Intestine Small	intestine
36	chr12:44736800-44737800	Weak transcription	Fetal Kidney	kidney
37	chr12:44736800-44742800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:44737800-44738000	Enhancers	Fetal Kidney	kidney
39	chr12:44738200-44738600	Enhancers	HepG2	liver
40	chr12:44740200-44740600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:44740200-44740600	Enhancers	Gastric	stomach
42	chr12:44742800-44743800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:44743000-44743800	Enhancers	Fetal Heart	heart
44	chr12:44743200-44743600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:44743200-44743800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:44743200-44743800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:44743200-44743800	Enhancers	Brain Substantia Nigra	brain
48	chr12:44743400-44743800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:44743400-44743800	Enhancers	Brain Anterior Caudate	brain
50	chr12:44743800-44744200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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