Variant report

Variant	nsv525788
Chromosome Location	chr12:31127160-31129130
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	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
2	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7971358	chr12:31127160-31127161	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76573104	chr12:31127163-31127164	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75003218	chr12:31127164-31127165	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114421085	chr12:31127191-31127192	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138636818	chr12:31127218-31127219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs759701	chr12:31127244-31127245	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527492169	chr12:31127262-31127263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148910709	chr12:31127271-31127272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560833901	chr12:31127302-31127303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73286492	chr12:31127315-31127316	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145239302	chr12:31127407-31127408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564499521	chr12:31127414-31127415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554746824	chr12:31127450-31127451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551781549	chr12:31127463-31127464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35425953	chr12:31127494-31127495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534117651	chr12:31127517-31127518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73091924	chr12:31127527-31127528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142414448	chr12:31127529-31127530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7971821	chr12:31127533-31127534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558647355	chr12:31127577-31127578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371955433	chr12:31127614-31127615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556607566	chr12:31127653-31127654	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578063235	chr12:31127658-31127659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538982412	chr12:31127665-31127666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553761171	chr12:31127690-31127691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34232850	chr12:31127691-31127692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145970600	chr12:31127721-31127722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60554564	chr12:31127735-31127736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148132347	chr12:31127744-31127745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71453794	chr12:31127748-31127749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561091038	chr12:31127755-31127756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541034728	chr12:31127756-31127757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575741168	chr12:31127761-31127762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141952502	chr12:31127844-31127845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553342441	chr12:31127863-31127864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142615398	chr12:31127877-31127878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200316374	chr12:31127879-31127880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531957268	chr12:31127882-31127883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150675358	chr12:31127921-31127922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182211101	chr12:31127967-31127968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368894434	chr12:31128000-31128001	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4931395	chr12:31128016-31128017	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554325276	chr12:31128054-31128055	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs368187192	chr12:31128079-31128080	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs139961931	chr12:31128090-31128091	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs538383404	chr12:31128098-31128099	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs370211034	chr12:31128099-31128100	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs571698373	chr12:31128101-31128102	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs539021022	chr12:31128113-31128114	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs554107069	chr12:31128116-31128117	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	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
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
2	chr12:31117200-31128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31122400-31127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:31122800-31133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:31124000-31127400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:31124000-31129200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:31124000-31129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:31124000-31129400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:31124200-31128200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:31124200-31128800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:31125000-31128600	Enhancers	Fetal Heart	heart
12	chr12:31126200-31127800	Weak transcription	Esophagus	oesophagus
13	chr12:31126200-31128800	Weak transcription	Brain Angular Gyrus	brain
14	chr12:31126400-31127600	Weak transcription	Right Ventricle	heart
15	chr12:31126400-31130600	Weak transcription	Spleen	Spleen
16	chr12:31126800-31127200	Genic enhancers	Fetal Stomach	stomach
17	chr12:31126800-31128600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:31127000-31127200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:31127000-31128200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:31127000-31132600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:31127200-31128600	Weak transcription	Fetal Stomach	stomach
22	chr12:31127400-31128400	Strong transcription	Brain Germinal Matrix	brain
23	chr12:31127400-31130800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:31127600-31128000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:31127600-31128200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:31127600-31129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:31127600-31129600	Enhancers	Right Ventricle	heart
28	chr12:31127800-31128000	Enhancers	Esophagus	oesophagus
29	chr12:31128000-31128200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:31128200-31129000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:31128200-31133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31128200-31134600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:31128400-31128600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:31128400-31142800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:31128600-31128800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:31128600-31129000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:31128600-31129000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:31128600-31130000	Enhancers	NHDF-Ad	bronchial
39	chr12:31128600-31130600	Weak transcription	Fetal Heart	heart
40	chr12:31128600-31135800	Enhancers	Fetal Stomach	stomach
41	chr12:31128800-31129200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:31128800-31129200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr12:31128800-31129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:31128800-31130200	Enhancers	Brain Angular Gyrus	brain
45	chr12:31129000-31129200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:31129000-31129600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:31129000-31130000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:31129000-31130400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:31129000-31130600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:31129000-31131400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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