Variant report

Variant	nsv1038532
Chromosome Location	chr12:863833-876234
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
2	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
3	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
4	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
5	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
6	chr12:863819..864324-chr12:923444..923987,2	K562	blood:
7	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
8	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
9	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
10	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
11	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
12	chr12:792243..794947-chr12:862758..864677,2	MCF-7	breast:
13	chr12:845023..848202-chr12:862758..865349,3	MCF-7	breast:
14	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
15	chr12:751220..755551-chr12:860416..865761,8	K562	blood:
16	chr12:864103..866169-chr12:883528..885181,2	K562	blood:
17	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177406	chromatin interactions
ENSG00000256672	chromatin interactions
ENSG00000171840	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7972667	chr12:863833-863834	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534451241	chr12:863844-863845	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs554069157	chr12:863880-863881	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535248159	chr12:863902-863903	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs566289887	chr12:863966-863967	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536527767	chr12:863979-863980	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs377021844	chr12:864007-864008	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555207498	chr12:864066-864067	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576828585	chr12:864105-864106	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543791176	chr12:864109-864110	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72647383	chr12:864119-864120	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs577415050	chr12:864154-864155	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139101581	chr12:864173-864174	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183295134	chr12:864180-864181	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs56089830	chr12:864181-864182	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs541545536	chr12:864192-864193	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559269257	chr12:864259-864260	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529864513	chr12:864277-864278	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541680765	chr12:864321-864322	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553424991	chr12:864329-864330	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs72647384	chr12:864382-864383	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs72647385	chr12:864390-864391	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs563197204	chr12:864445-864446	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs10849556	chr12:864477-864478	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
25	rs374025968	chr12:864485-864486	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs117480018	chr12:864511-864512	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72647386	chr12:864520-864521	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72647387	chr12:864536-864537	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528153108	chr12:864555-864556	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs546708652	chr12:864559-864560	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs568075273	chr12:864575-864576	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557763034	chr12:864627-864628	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs34537553	chr12:864644-864645	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370565318	chr12:864674-864675	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372582231	chr12:864679-864680	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530941722	chr12:864680-864681	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375988968	chr12:864711-864712	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554865770	chr12:864721-864722	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570320833	chr12:864725-864726	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs144564597	chr12:864749-864750	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549151044	chr12:864793-864794	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs558972112	chr12:864870-864871	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186644096	chr12:864887-864888	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574113713	chr12:864914-864915	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190981558	chr12:864932-864933	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574839424	chr12:864980-864981	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs140994430	chr12:865001-865002	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563184802	chr12:865010-865011	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575179892	chr12:865104-865105	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537130701	chr12:865134-865135	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Autism	22495311	CNVD

Chromatin state (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:859200-865000	Active TSS	Brain Substantia Nigra	brain
2	chr12:859200-866400	Active TSS	K562	blood
3	chr12:859400-865000	Active TSS	GM12878-XiMat	blood
4	chr12:859600-865600	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:859800-866000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:859800-866200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:859800-866200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:860000-864600	Active TSS	Aorta	Aorta
9	chr12:860000-864800	Active TSS	Brain Hippocampus Middle	brain
10	chr12:860000-864800	Active TSS	Fetal Kidney	kidney
11	chr12:860000-865000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:860000-865000	Active TSS	Brain Anterior Caudate	brain
13	chr12:860000-865200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:860000-865200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:860000-867400	Active TSS	Right Atrium	heart
16	chr12:860000-867600	Active TSS	Right Ventricle	heart
17	chr12:860200-864200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr12:860200-864800	Active TSS	Left Ventricle	heart
19	chr12:860200-864800	Active TSS	Pancreas	Pancrea
20	chr12:860200-865400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:860200-865400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:860200-865400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:860200-865800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:860200-866000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:860200-866400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:860200-866800	Active TSS	Psoas Muscle	Psoas
27	chr12:860400-864600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:860600-864800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr12:860800-864800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:861000-864200	Active TSS	Fetal Brain Female	brain
31	chr12:861000-864400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:861000-864600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:861000-864800	Active TSS	Thymus	Thymus
34	chr12:861000-865000	Active TSS	Ovary	ovary
35	chr12:861000-865200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:861000-866200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:861200-864000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:861200-864400	Active TSS	Colon Smooth Muscle	Colon
39	chr12:861200-864400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:861200-864400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:861200-864400	Active TSS	Fetal Lung	lung
42	chr12:861200-864400	Active TSS	Small Intestine	intestine
43	chr12:861200-864600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:861200-864800	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:861200-864800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:861200-864800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:861200-864800	Active TSS	Colonic Mucosa	Colon
48	chr12:861200-864800	Active TSS	Fetal Intestine Large	intestine
49	chr12:861200-864800	Active TSS	Fetal Muscle Trunk	muscle
50	chr12:861200-865000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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