Variant report

Variant	nsv1047628
Chromosome Location	chr12:31080091-31149639
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:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
2	chr12:31004147..31004726-chr12:31088536..31089374,2	MCF-7	breast:
3	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
4	chr12:31068113..31070208-chr12:31087806..31090681,2	K562	blood:
5	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
6	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
7	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
8	chr12:31070913..31073527-chr12:31081618..31083991,3	MCF-7	breast:
9	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
10	chr12:31086101..31088564-chr12:31089320..31090867,2	K562	blood:
11	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
12	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
13	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
14	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
15	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
16	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
17	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
18	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
19	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
20	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
21	chr12:31086101..31088564-chr12:31089320..31090867,2	K562	blood:
22	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
23	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
24	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
25	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
26	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
27	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
28	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
29	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
30	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
31	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
32	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
33	chr12:31063874..31066002-chr12:31083561..31086374,2	MCF-7	breast:
34	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPRIN2-6	chr12:31117396-31117961	ucscGeneNc_uc001rjq_1
2	lnc-CAPRIN2-6	chr12:31104861-31104971	ucscGeneNc_uc001rjq_1

No data

Extended variants
information (count: 2812 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2812 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546632662	chr12:31080254-31080255	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185385061	chr12:31080275-31080276	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529165203	chr12:31080278-31080279	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142287604	chr12:31080327-31080328	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190286949	chr12:31080352-31080353	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568690365	chr12:31080394-31080395	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75992357	chr12:31080407-31080408	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376694122	chr12:31080437-31080438	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73093651	chr12:31080450-31080451	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145635888	chr12:31080476-31080477	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536686899	chr12:31080522-31080523	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555058043	chr12:31080526-31080527	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575108034	chr12:31080551-31080552	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537203708	chr12:31080558-31080559	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192988159	chr12:31080593-31080594	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138243147	chr12:31080607-31080608	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575924383	chr12:31080724-31080725	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546380534	chr12:31080731-31080732	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114365892	chr12:31080736-31080737	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377648466	chr12:31080757-31080758	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573256134	chr12:31080774-31080775	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114617900	chr12:31080857-31080858	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142838867	chr12:31080939-31080940	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150645309	chr12:31080940-31080941	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74906169	chr12:31080953-31080954	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562409331	chr12:31080985-31080986	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184439549	chr12:31081043-31081044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532963042	chr12:31081114-31081115	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7957255	chr12:31081130-31081131	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566601090	chr12:31081152-31081153	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527380626	chr12:31081165-31081166	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548987903	chr12:31081209-31081210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188799782	chr12:31081235-31081236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200976951	chr12:31081259-31081260	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537805407	chr12:31081376-31081377	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557695493	chr12:31081382-31081383	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569526478	chr12:31081384-31081385	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534864053	chr12:31081386-31081387	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181134609	chr12:31081408-31081409	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558062823	chr12:31081433-31081434	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573321904	chr12:31081438-31081439	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139554718	chr12:31081562-31081563	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555804260	chr12:31081583-31081584	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573714462	chr12:31081632-31081633	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544152067	chr12:31081639-31081640	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562488722	chr12:31081668-31081669	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185389671	chr12:31081674-31081675	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35070704	chr12:31081718-31081719	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188981451	chr12:31081723-31081724	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12317348	chr12:31081728-31081729	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD

Chromatin state (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31078800-31080600	Enhancers	Spleen	Spleen
2	chr12:31079000-31080200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:31079000-31080200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:31079000-31080200	Bivalent Enhancer	Fetal Thymus	thymus
5	chr12:31079000-31080400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr12:31079200-31080200	Active TSS	Brain Substantia Nigra	brain
8	chr12:31079200-31080200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:31079200-31080200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr12:31079200-31080400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:31079200-31080400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:31079200-31080600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:31079200-31081000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr12:31079200-31081600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr12:31079400-31080600	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr12:31079400-31084200	Enhancers	Fetal Lung	lung
17	chr12:31079600-31080200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:31079800-31080200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:31079800-31080200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
26	chr12:31079800-31080200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:31079800-31080200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr12:31079800-31080200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr12:31079800-31080200	Flanking Active TSS	HSMMtube	muscle
32	chr12:31079800-31080200	Flanking Active TSS	HUVEC	blood vessel
33	chr12:31079800-31080400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:31079800-31080400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:31079800-31080400	Flanking Active TSS	Fetal Brain Male	brain
36	chr12:31079800-31080600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:31079800-31081000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:31079800-31081000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:31080000-31080200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:31080000-31080200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:31080000-31080200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
42	chr12:31080000-31080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:31080000-31080200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:31080000-31080200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:31080000-31080200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr12:31080000-31080200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr12:31080000-31080200	Enhancers	Fetal Kidney	kidney
48	chr12:31080000-31080200	Active TSS	Gastric	stomach
49	chr12:31080000-31080200	Active TSS	Left Ventricle	heart
50	chr12:31080000-31080200	Enhancers	Ovary	ovary

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