Variant report

Variant	nsv1053259
Chromosome Location	chr12:4396376-4408802
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4356913..4358779-chr12:4400758..4402412,2	K562	blood:
2	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:
3	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:
4	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:
5	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:
6	chr12:4402697..4405001-chr12:4413753..4415725,2	K562	blood:
7	chr12:4407612..4409677-chr12:4410603..4412759,2	K562	blood:
8	chr12:4395917..4398503-chr12:4411541..4413819,2	K562	blood:
9	chr12:4007431..4009689-chr12:4393873..4396492,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256862	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552214750	chr12:4396406-4396407	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571115390	chr12:4396421-4396422	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548321728	chr12:4396504-4396505	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs561835793	chr12:4396521-4396522	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs527457659	chr12:4396526-4396527	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs547684086	chr12:4396558-4396559	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567431549	chr12:4396643-4396644	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114142145	chr12:4396644-4396645	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3217846	chr12:4396668-4396669	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3217847	chr12:4396706-4396707	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538747297	chr12:4396707-4396708	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558638310	chr12:4396736-4396737	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs3217848	chr12:4396746-4396747	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115297385	chr12:4396751-4396752	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183782411	chr12:4396756-4396757	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575028899	chr12:4396783-4396784	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531547914	chr12:4396790-4396791	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188722140	chr12:4396822-4396823	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144086793	chr12:4396847-4396848	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs151019550	chr12:4396848-4396849	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545916276	chr12:4396872-4396873	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559384644	chr12:4396904-4396905	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527515103	chr12:4396917-4396918	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552103513	chr12:4396974-4396975	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567595155	chr12:4396999-4397000	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529935821	chr12:4397031-4397032	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs550007396	chr12:4397032-4397033	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs569670560	chr12:4397054-4397055	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs3217849	chr12:4397075-4397076	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs561968757	chr12:4397087-4397088	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs565760592	chr12:4397099-4397100	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs149778122	chr12:4397200-4397201	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554855475	chr12:4397206-4397207	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs367632205	chr12:4397222-4397223	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570358254	chr12:4397223-4397224	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145680562	chr12:4397258-4397259	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372425684	chr12:4397260-4397261	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs3217850	chr12:4397285-4397286	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545774737	chr12:4397288-4397289	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537480411	chr12:4397347-4397348	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs147072748	chr12:4397349-4397350	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138390748	chr12:4397353-4397354	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570825844	chr12:4397374-4397375	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs146359167	chr12:4397404-4397405	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs76853594	chr12:4397416-4397417	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs571928391	chr12:4397418-4397419	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs56794387	chr12:4397419-4397420	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs77560352	chr12:4397430-4397431	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs560935706	chr12:4397444-4397445	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs114451090	chr12:4397473-4397474	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
6	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
18	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
19	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:4389800-4396600	Strong transcription	NHEK	skin
26	chr12:4390000-4396400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:4390000-4398400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:4390000-4399600	Genic enhancers	Fetal Intestine Small	intestine
29	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:4390200-4399600	Genic enhancers	Fetal Intestine Large	intestine
31	chr12:4390200-4400000	Genic enhancers	Right Ventricle	heart
32	chr12:4390400-4396800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:4390400-4397000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:4390400-4397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:4390400-4398200	Genic enhancers	Duodenum Mucosa	Duodenum
36	chr12:4390800-4398800	Genic enhancers	GM12878-XiMat	blood
37	chr12:4390800-4400200	Strong transcription	Fetal Lung	lung
38	chr12:4391000-4396600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:4391000-4396800	Weak transcription	HSMMtube	muscle
40	chr12:4391200-4400800	Strong transcription	Pancreas	Pancrea
41	chr12:4391600-4396600	Strong transcription	HSMM	muscle
42	chr12:4393000-4398000	Genic enhancers	Primary T cells from cord blood	blood
43	chr12:4393000-4402200	Strong transcription	Aorta	Aorta
44	chr12:4393200-4396400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:4393200-4396400	Weak transcription	Small Intestine	intestine
46	chr12:4393200-4400000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:4393600-4400000	Weak transcription	Fetal Kidney	kidney
48	chr12:4393600-4404400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:4394000-4410200	Weak transcription	Thymus	Thymus
50	chr12:4394200-4396800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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