Variant report

Variant	nsv1040434
Chromosome Location	chr12:865970-876234
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
2	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
3	chr12:864103..866169-chr12:883528..885181,2	K562	blood:
4	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
5	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
6	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
7	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
8	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
9	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
10	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
11	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
12	chr12:867638..869974-chr12:870964..872822,2	K562	blood:

No data

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

Extended variants
information (count: 356 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6489746	chr12:865970-865971	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562590053	chr12:866000-866001	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531101603	chr12:866020-866021	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148654044	chr12:866027-866028	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559635231	chr12:866042-866043	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528825241	chr12:866068-866069	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546971200	chr12:866081-866082	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568390191	chr12:866131-866132	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535537339	chr12:866196-866197	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12296798	chr12:866208-866209	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566006564	chr12:866236-866237	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142012201	chr12:866268-866269	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11608483	chr12:866278-866279	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139907131	chr12:866295-866296	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376690149	chr12:866296-866297	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551434684	chr12:866353-866354	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539197761	chr12:866398-866399	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557676086	chr12:866408-866409	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534187062	chr12:866423-866424	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376154548	chr12:866475-866476	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7963878	chr12:866499-866500	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368419754	chr12:866500-866501	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10774456	chr12:866501-866502	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs386759395	chr12:866518-866519	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369138312	chr12:866519-866520	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372419231	chr12:866521-866522	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372932182	chr12:866524-866525	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375664295	chr12:866525-866526	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573525391	chr12:866527-866528	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544250332	chr12:866529-866530	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142116382	chr12:866578-866579	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533070815	chr12:866582-866583	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569674736	chr12:866590-866591	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536599119	chr12:866605-866606	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528758928	chr12:866633-866634	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150742324	chr12:866636-866637	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192192373	chr12:866682-866683	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139128368	chr12:866729-866730	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184986374	chr12:866730-866731	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540471596	chr12:866805-866806	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368069276	chr12:866829-866830	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs578017018	chr12:866926-866927	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189884679	chr12:866930-866931	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539583234	chr12:866946-866947	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371946414	chr12:866960-866961	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557927932	chr12:866969-866970	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544881710	chr12:866971-866972	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567217627	chr12:866975-866976	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192686986	chr12:866977-866978	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7975272	chr12:867023-867024	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:859200-866400	Active TSS	K562	blood
2	chr12:859800-866000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:859800-866200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:859800-866200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:860000-867400	Active TSS	Right Atrium	heart
6	chr12:860000-867600	Active TSS	Right Ventricle	heart
7	chr12:860200-866000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:860200-866400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:860200-866800	Active TSS	Psoas Muscle	Psoas
10	chr12:861000-866200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:861200-866200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:861200-866200	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr12:861200-866400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:861200-866400	Active TSS	HSMMtube	muscle
15	chr12:861400-866800	Active TSS	HSMM	muscle
16	chr12:862400-866400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr12:862600-866400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:863000-866400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:863400-866400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:863600-866400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:863600-866400	Flanking Active TSS	HUVEC	blood vessel
22	chr12:863600-866400	Active TSS	NHLF	lung
23	chr12:863800-866000	Active TSS	Fetal Muscle Leg	muscle
24	chr12:863800-866200	Active TSS	Stomach Smooth Muscle	stomach
25	chr12:863800-866400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:863800-866400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr12:863800-876600	Weak transcription	Spleen	Spleen
28	chr12:864400-866400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:864400-872000	Weak transcription	Gastric	stomach
30	chr12:864400-883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:864600-866000	Active TSS	Fetal Brain Female	brain
32	chr12:864600-866400	Enhancers	Fetal Lung	lung
33	chr12:864600-872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:864600-875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:864600-884600	Weak transcription	Aorta	Aorta
36	chr12:864800-866400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:864800-866400	Flanking Active TSS	NHEK	skin
38	chr12:864800-868000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:865000-866000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr12:865000-866400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:865000-866400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:865000-866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:865000-866600	Transcr. at gene 5' and 3'	A549	lung
44	chr12:865000-867000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
45	chr12:865200-866000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:865200-866000	Enhancers	Fetal Intestine Small	intestine
47	chr12:865200-866000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:865200-866200	Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:865200-866200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:865200-866200	Weak transcription	Fetal Intestine Large	intestine

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