Variant report

Variant	esv3345349
Chromosome Location	chr12:4394017-4394614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4007431..4009689-chr12:4393873..4396492,2	K562	blood:
2	chr12:4104021..4107125-chr12:4390734..4394763,3	K562	blood:
3	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:

Variant related genes	Relation type
ENSG00000256862	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3217836	chr12:4394017-4394018	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529483595	chr12:4394047-4394048	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188648326	chr12:4394048-4394049	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546645495	chr12:4394091-4394092	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572782326	chr12:4394143-4394144	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147089227	chr12:4394153-4394154	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551748571	chr12:4394154-4394155	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138444964	chr12:4394192-4394193	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534154405	chr12:4394203-4394204	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191953091	chr12:4394239-4394240	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377537032	chr12:4394300-4394301	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556464490	chr12:4394340-4394341	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3217837	chr12:4394341-4394342	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143983154	chr12:4394367-4394368	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3217838	chr12:4394393-4394394	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369983143	chr12:4394398-4394399	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574849796	chr12:4394500-4394501	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373598355	chr12:4394515-4394516	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3217839	chr12:4394543-4394544	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71458093	chr12:4394553-4394554	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139962207	chr12:4394574-4394575	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544499238	chr12:4394601-4394602	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	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:120 , 50 per page) page: 1 2 3

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	chr12:4386600-4395000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
14	chr12:4387000-4395000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr12:4387600-4394200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:4388200-4394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
23	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
24	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:4388800-4394400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:4388800-4394800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:4389400-4394200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:4389600-4394800	Strong transcription	HMEC	breast
33	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:4389800-4396600	Strong transcription	NHEK	skin
35	chr12:4390000-4396400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:4390000-4398400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:4390000-4399600	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:4390200-4394200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:4390200-4394600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:4390200-4399600	Genic enhancers	Fetal Intestine Large	intestine
42	chr12:4390200-4400000	Genic enhancers	Right Ventricle	heart
43	chr12:4390400-4394400	Enhancers	Fetal Brain Male	brain
44	chr12:4390400-4396800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:4390400-4397000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:4390400-4397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:4390400-4398200	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr12:4390600-4394800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:4390600-4395000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:4390600-4395600	Genic enhancers	Colon Smooth Muscle	Colon

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