Variant report

Variant	esv3388219
Chromosome Location	chr20:29644291-29653908
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:29651605..29654949-chr9:68424375..68427399,3	K562	blood:
2	chr20:29652806..29654416-chr4:190198944..190200530,2	K562	blood:
3	chr20:29648837..29650968-chr4:190200962..190202931,2	K562	blood:
4	chr20:29653621..29654319-chr4:190200586..190201480,4	MCF-7	breast:
5	chr20:29653586..29654379-chr4:190200521..190201456,3	MCF-7	breast:
6	chr17:57928426..57930583-chr20:29648016..29650833,2	MCF-7	breast:
7	chr20:29649886..29650594-chr4:190203631..190204210,2	MCF-7	breast:
8	chr20:29651873..29653575-chr4:190202756..190204258,2	MCF-7	breast:
9	chr20:29652201..29655333-chr4:190200582..190202470,4	K562	blood:
10	chr20:29651880..29652382-chr4:190202324..190203182,2	MCF-7	breast:
11	chr20:29651302..29655109-chr4:190200289..190204267,7	MCF-7	breast:
12	chr10:113002950..113005949-chr20:29648447..29650404,2	MCF-7	breast:
13	chr20:29651730..29655376-chr4:190199207..190202601,7	MCF-7	breast:
14	chr20:29653308..29653912-chr4:190200620..190201462,2	MCF-7	breast:

No data

Extended variants
information (count: 1688 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1688 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190640687	chr20:29644297-29644298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557560607	chr20:29644302-29644303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574299005	chr20:29644308-29644309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144139877	chr20:29644321-29644322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201358065	chr20:29644322-29644323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199978699	chr20:29644324-29644325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200914676	chr20:29644332-29644333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553459940	chr20:29644333-29644334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189332450	chr20:29644360-29644361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201874490	chr20:29644368-29644369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200183977	chr20:29644384-29644385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372451395	chr20:29644422-29644423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182946232	chr20:29644428-29644429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111827807	chr20:29644436-29644437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545346602	chr20:29644453-29644454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565139529	chr20:29644456-29644457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202023092	chr20:29644462-29644463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371570072	chr20:29644469-29644470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575169589	chr20:29644475-29644476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544117333	chr20:29644480-29644481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376648444	chr20:29644505-29644506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560736405	chr20:29644511-29644512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369214269	chr20:29644521-29644522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529868747	chr20:29644527-29644528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113556870	chr20:29644548-29644549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201501141	chr20:29644564-29644565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560230813	chr20:29644574-29644575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201965850	chr20:29644601-29644602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529497573	chr20:29644611-29644612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143415426	chr20:29644631-29644632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112671319	chr20:29644636-29644637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532114875	chr20:29644679-29644680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533630901	chr20:29644680-29644681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181239458	chr20:29644688-29644689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112091156	chr20:29644694-29644695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568779884	chr20:29644702-29644703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192915901	chr20:29644705-29644706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374183658	chr20:29644727-29644728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112204177	chr20:29644734-29644735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537705101	chr20:29644746-29644747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551330502	chr20:29644764-29644765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199736395	chr20:29644768-29644769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567837711	chr20:29644776-29644777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200911328	chr20:29644786-29644787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112658423	chr20:29644810-29644811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536888222	chr20:29644816-29644817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553301385	chr20:29644826-29644827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113483839	chr20:29644828-29644829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529247814	chr20:29644831-29644832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538780438	chr20:29644851-29644852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29642000-29645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr20:29642000-29645400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr20:29642000-29645400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr20:29642000-29645400	Weak transcription	Brain Substantia Nigra	brain
5	chr20:29642000-29645400	Weak transcription	Fetal Heart	heart
6	chr20:29642000-29645400	Weak transcription	Fetal Kidney	kidney
7	chr20:29642000-29645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:29642000-29645600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr20:29642200-29645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr20:29642200-29645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:29642200-29645400	Weak transcription	Primary T cells from cord blood	blood
12	chr20:29642200-29645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr20:29642200-29645400	Weak transcription	Adipose Nuclei	Adipose
14	chr20:29642200-29645400	Weak transcription	Liver	Liver
15	chr20:29642200-29645400	Weak transcription	Brain Hippocampus Middle	brain
16	chr20:29642200-29645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr20:29642200-29645400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr20:29642200-29645400	Weak transcription	Fetal Brain Male	brain
19	chr20:29642200-29645400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr20:29642200-29645400	Weak transcription	Right Ventricle	heart
21	chr20:29642200-29645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:29642200-29645400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr20:29642200-29645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:29642200-29645600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:29642200-29645600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr20:29642200-29645600	Weak transcription	Primary B cells from cord blood	blood
27	chr20:29642200-29645600	Weak transcription	Left Ventricle	heart
28	chr20:29642200-29645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:29642200-29645800	Weak transcription	Aorta	Aorta
30	chr20:29642200-29645800	Weak transcription	Pancreas	Pancrea
31	chr20:29643000-29645400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr20:29644600-29645600	Weak transcription	Ovary	ovary
33	chr20:29644800-29645000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr20:29645000-29645200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:29645000-29645400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr20:29645000-29645800	Weak transcription	Lung	lung
37	chr20:29645400-29645800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr20:29645400-29646800	ZNF genes & repeats	Right Ventricle	heart
39	chr20:29645400-29647400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr20:29645400-29647600	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr20:29645400-29647600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr20:29645400-29647600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr20:29645400-29647800	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr20:29645400-29648200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr20:29645400-29648400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr20:29645400-29648400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:29645400-29648400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:29645400-29648400	ZNF genes & repeats	Fetal Heart	heart
49	chr20:29645400-29648400	ZNF genes & repeats	Fetal Kidney	kidney
50	chr20:29645400-29648600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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