Variant report

Variant	nsv556903
Chromosome Location	chr12:863177-874005
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
2	chr12:864103..866169-chr12:883528..885181,2	K562	blood:
3	chr12:845023..848202-chr12:862758..865349,3	MCF-7	breast:
4	chr12:751220..755551-chr12:860416..865761,8	K562	blood:
5	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
6	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
7	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
8	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
9	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
10	chr12:699762..702653-chr12:861563..863460,2	K562	blood:
11	chr12:792243..794947-chr12:862758..864677,2	MCF-7	breast:
12	chr12:863819..864324-chr12:923444..923987,2	K562	blood:
13	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
14	chr12:860830..863519-chr17:56735307..56737869,2	MCF-7	breast:
15	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
16	chr12:739334..741511-chr12:860709..863370,3	MCF-7	breast:
17	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
18	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
19	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
20	chr12:861574..863792-chr12:1057514..1060138,2	K562	blood:
21	chr12:858790..861699-chr12:870992..873821,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions
ENSG00000256672	chromatin interactions
ENSG00000177406	chromatin interactions
ENSG00000255825	chromatin interactions
ENSG00000171840	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 405 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:405 , 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	rs34880640	chr12:863177-863178	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369532790	chr12:863200-863201	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs200469232	chr12:863208-863209	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs201939737	chr12:863221-863222	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs201447798	chr12:863242-863243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs536592144	chr12:863253-863254	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs200468947	chr12:863286-863287	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs72647371	chr12:863295-863296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72647372	chr12:863309-863310	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs373400194	chr12:863324-863325	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs145316568	chr12:863328-863329	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs146461512	chr12:863349-863350	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs369056336	chr12:863379-863380	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs72647373	chr12:863408-863409	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs72647374	chr12:863415-863416	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs56246627	chr12:863496-863497	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs72647375	chr12:863505-863506	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs373153557	chr12:863506-863507	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs398088143	chr12:863508-863509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs3858703	chr12:863517-863518	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs572639262	chr12:863567-863568	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs72647376	chr12:863591-863592	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554644781	chr12:863602-863603	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs576537877	chr12:863629-863630	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs72647377	chr12:863649-863650	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs543850980	chr12:863654-863655	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs72647378	chr12:863655-863656	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs114571246	chr12:863676-863677	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs532653088	chr12:863694-863695	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs72647379	chr12:863713-863714	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs540860483	chr12:863720-863721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs559547195	chr12:863735-863736	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs529927437	chr12:863752-863753	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs548501180	chr12:863810-863811	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
35	rs555810187	chr12:863812-863813	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
36	rs72647380	chr12:863814-863815	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
37	rs72647381	chr12:863827-863828	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
38	rs72647382	chr12:863830-863831	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:841 , 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	chr12:860000-863200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:860000-863200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:860000-864600	Active TSS	Aorta	Aorta
11	chr12:860000-864800	Active TSS	Brain Hippocampus Middle	brain
12	chr12:860000-864800	Active TSS	Fetal Kidney	kidney
13	chr12:860000-865000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:860000-865000	Active TSS	Brain Anterior Caudate	brain
15	chr12:860000-865200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:860000-865200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:860000-867400	Active TSS	Right Atrium	heart
18	chr12:860000-867600	Active TSS	Right Ventricle	heart
19	chr12:860200-863400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:860200-864200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr12:860200-864800	Active TSS	Left Ventricle	heart
22	chr12:860200-864800	Active TSS	Pancreas	Pancrea
23	chr12:860200-865400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:860200-865400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:860200-865400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:860200-865800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:860200-866000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:860200-866400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr12:860200-866800	Active TSS	Psoas Muscle	Psoas
30	chr12:860400-864600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:860600-863600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:860600-864800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:860800-864800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:861000-863400	Active TSS	Brain Angular Gyrus	brain
35	chr12:861000-864200	Active TSS	Fetal Brain Female	brain
36	chr12:861000-864400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:861000-864600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:861000-864800	Active TSS	Thymus	Thymus
39	chr12:861000-865000	Active TSS	Ovary	ovary
40	chr12:861000-865200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:861000-866200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:861200-863200	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:861200-863200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:861200-863200	Active TSS	NHLF	lung
45	chr12:861200-863400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr12:861200-863400	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:861200-863400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:861200-863600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:861200-863600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:861200-863600	Active TSS	Rectal Smooth Muscle	rectum

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