Variant report

Variant	esv3354337
Chromosome Location	chr1:94973564-94977862
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	REST	chr1:94974777-94974927	H1-hESC	embryonic stem cell:	n/a	n/a
2	RXRA	chr1:94974783-94974934	HepG2	liver:	n/a	n/a
3	ZBTB33	chr1:94974767-94974997	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABCD3	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201340659	chr1:94973575-94973576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560189424	chr1:94973688-94973689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529378082	chr1:94973774-94973775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549156670	chr1:94973869-94973870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562788358	chr1:94973922-94973923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531814828	chr1:94973940-94973941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552008397	chr1:94973958-94973959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571864496	chr1:94973962-94973963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539392118	chr1:94973991-94973992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546648086	chr1:94974021-94974022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11165152	chr1:94974051-94974052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535587419	chr1:94974058-94974059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368174028	chr1:94974097-94974098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555600140	chr1:94974099-94974100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112259835	chr1:94974104-94974105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575350903	chr1:94974123-94974124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537656532	chr1:94974176-94974177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11485389	chr1:94974308-94974309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371634530	chr1:94974310-94974311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540603234	chr1:94974313-94974314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560152568	chr1:94974349-94974350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573791874	chr1:94974425-94974426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542665919	chr1:94974450-94974451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562649946	chr1:94974471-94974472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531897976	chr1:94974576-94974577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551705312	chr1:94974615-94974616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565553091	chr1:94974631-94974632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528010896	chr1:94974650-94974651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190528859	chr1:94974705-94974706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566522235	chr1:94974714-94974715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535448458	chr1:94974745-94974746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149776799	chr1:94974749-94974750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532679383	chr1:94974753-94974754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368986474	chr1:94974802-94974803	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568877682	chr1:94974824-94974825	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs181530085	chr1:94974875-94974876	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552495038	chr1:94974897-94974898	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565735610	chr1:94974945-94974946	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577857196	chr1:94975025-94975026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528473859	chr1:94975040-94975041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533880442	chr1:94975062-94975063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371716557	chr1:94975091-94975092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573657169	chr1:94975101-94975102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542627207	chr1:94975109-94975110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375943265	chr1:94975110-94975111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576490592	chr1:94975161-94975162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545568926	chr1:94975276-94975277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184428293	chr1:94975277-94975278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527987539	chr1:94975341-94975342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189107815	chr1:94975353-94975354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
2	chr1:94914800-94985800	Weak transcription	NHLF	lung
3	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
4	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
5	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
6	chr1:94916200-94974200	Weak transcription	Lung	lung
7	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
9	chr1:94929400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:94929600-94985400	Weak transcription	Fetal Brain Female	brain
11	chr1:94930800-94974000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
13	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:94952800-94987800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:94956600-94987200	Weak transcription	Fetal Heart	heart
19	chr1:94958000-94985400	Weak transcription	Fetal Brain Male	brain
20	chr1:94958400-94982600	Weak transcription	HMEC	breast
21	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
22	chr1:94958400-94993200	Weak transcription	NH-A	brain
23	chr1:94958600-94976800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:94958600-94987600	Weak transcription	Primary B cells from cord blood	blood
25	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:94960600-94973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:94962000-94988000	Weak transcription	HUVEC	blood vessel
28	chr1:94965000-94975200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:94965400-94987800	Weak transcription	GM12878-XiMat	blood
30	chr1:94965400-94995800	Weak transcription	HSMM	muscle
31	chr1:94965600-94982000	Weak transcription	Stomach Mucosa	stomach
32	chr1:94965600-94988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
34	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:94965800-94977600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:94966200-94993000	Weak transcription	Hela-S3	cervix
37	chr1:94966400-94974800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:94967200-94993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94969000-94982600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:94969200-94974800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:94969200-94987000	Weak transcription	Osteobl	bone
42	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
44	chr1:94969400-94980600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:94969400-94984800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:94969400-94988000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:94970000-94975800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:94970000-94982000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:94970200-94983000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:94970200-94993000	Weak transcription	Brain Anterior Caudate	brain

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