Variant report

Variant	esv3377863
Chromosome Location	chr17:66883257-66885205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:66884813-66884927	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr17:66884524-66884637	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCA8	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549987768	chr17:66883305-66883306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373230211	chr17:66883317-66883318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377751201	chr17:66883318-66883319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113231105	chr17:66883367-66883368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559736035	chr17:66883382-66883383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530131938	chr17:66883441-66883442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146019279	chr17:66883497-66883498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141209192	chr17:66883507-66883508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201100712	chr17:66883513-66883514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200161227	chr17:66883523-66883524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139981915	chr17:66883548-66883549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571544554	chr17:66883583-66883584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113739907	chr17:66883588-66883589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376224232	chr17:66883607-66883608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139774519	chr17:66883616-66883617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373340988	chr17:66883622-66883623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377337813	chr17:66883623-66883624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201168458	chr17:66883661-66883662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374946614	chr17:66883671-66883672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375961591	chr17:66883675-66883676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202133324	chr17:66883680-66883681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190151136	chr17:66883710-66883711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6501839	chr17:66883719-66883720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs535921903	chr17:66883726-66883727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182103268	chr17:66883867-66883868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576197511	chr17:66883872-66883873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113830727	chr17:66883883-66883884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565167198	chr17:66883893-66883894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563752313	chr17:66883932-66883933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114294298	chr17:66883935-66883936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76989125	chr17:66883946-66883947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559439525	chr17:66883952-66883953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4968968	chr17:66883972-66883973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370830810	chr17:66884047-66884048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72340258	chr17:66884049-66884050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5007934	chr17:66884050-66884051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146099895	chr17:66884051-66884052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369762938	chr17:66884055-66884056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36092193	chr17:66884057-66884058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367745482	chr17:66884059-66884060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371314681	chr17:66884060-66884061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377680815	chr17:66884062-66884063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56187944	chr17:66884063-66884064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372944173	chr17:66884064-66884065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374950686	chr17:66884066-66884067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201074109	chr17:66884097-66884098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199692584	chr17:66884113-66884114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201217803	chr17:66884129-66884130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548358942	chr17:66884142-66884143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147553663	chr17:66884161-66884162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66866800-66883600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:66869200-66903400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:66869800-66883400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:66877000-66883800	Strong transcription	Adipose Nuclei	Adipose
5	chr17:66877000-66884000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:66877000-66886200	Weak transcription	Colonic Mucosa	Colon
7	chr17:66877000-66886600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:66877000-66889000	Weak transcription	Spleen	Spleen
9	chr17:66877000-66906200	Weak transcription	Fetal Stomach	stomach
10	chr17:66877200-66887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr17:66877600-66888400	Strong transcription	Liver	Liver
12	chr17:66877600-66893400	Weak transcription	Brain Anterior Caudate	brain
13	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
14	chr17:66878200-66889400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:66878200-66899200	Weak transcription	Osteobl	bone
16	chr17:66878400-66901000	Weak transcription	Brain Angular Gyrus	brain
17	chr17:66879800-66892600	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:66879800-66897000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:66880000-66893400	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:66880800-66883800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:66881000-66903200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:66881200-66893400	Weak transcription	Brain Substantia Nigra	brain
23	chr17:66881200-66904200	Weak transcription	Psoas Muscle	Psoas
24	chr17:66881400-66892800	Weak transcription	Fetal Heart	heart
25	chr17:66881400-66893600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:66881400-66893800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:66881400-66898800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:66881400-66906400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr17:66881400-66906400	Weak transcription	Right Ventricle	heart
30	chr17:66881600-66893000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:66882000-66897600	Weak transcription	Left Ventricle	heart
32	chr17:66882400-66883800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:66882800-66890800	Strong transcription	Fetal Lung	lung
34	chr17:66883200-66884000	Strong transcription	Ovary	ovary
35	chr17:66883400-66890200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:66883400-66891800	Weak transcription	Aorta	Aorta
37	chr17:66883600-66885800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:66883800-66886000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:66883800-66886000	Weak transcription	Adipose Nuclei	Adipose
40	chr17:66883800-66894000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:66884000-66888400	Weak transcription	Ovary	ovary

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