Variant report

Variant	esv3411328
Chromosome Location	chr1:93200439-93202512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93165186..93167884-chr1:93200897..93202411,2	K562	blood:
2	chr1:93199006..93201048-chr1:93203256..93205414,2	K562	blood:

Variant related genes	Relation type
ENSG00000201317	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535702897	chr1:93200449-93200450	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150477512	chr1:93200473-93200474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560856366	chr1:93200490-93200491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs72970638	chr1:93200500-93200501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540104116	chr1:93200502-93200503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529788531	chr1:93200549-93200550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188776899	chr1:93200584-93200585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566826063	chr1:93200623-93200624	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563229653	chr1:93200633-93200634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78804905	chr1:93200651-93200652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs192371262	chr1:93200663-93200664	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs137944081	chr1:93200694-93200695	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574066430	chr1:93200729-93200730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2180977	chr1:93200754-93200755	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370450387	chr1:93200773-93200774	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373808740	chr1:93200775-93200776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556288176	chr1:93200819-93200820	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4847301	chr1:93200924-93200925	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115610604	chr1:93200932-93200933	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544853818	chr1:93200948-93200949	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560008582	chr1:93200963-93200964	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374990910	chr1:93201006-93201007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527327111	chr1:93201014-93201015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542591091	chr1:93201021-93201022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560846063	chr1:93201105-93201106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112018093	chr1:93201117-93201118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531166763	chr1:93201162-93201163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531409288	chr1:93201179-93201180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374445522	chr1:93201202-93201203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369870797	chr1:93201203-93201204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58281267	chr1:93201204-93201205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529319677	chr1:93201206-93201207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3042601	chr1:93201209-93201210	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397946549	chr1:93201211-93201212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61494525	chr1:93201212-93201213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59508665	chr1:93201214-93201215	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57049354	chr1:93201215-93201216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569190198	chr1:93201229-93201230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3042592	chr1:93201243-93201244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370319837	chr1:93201244-93201245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs386367680	chr1:93201250-93201251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34004515	chr1:93201251-93201252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34142263	chr1:93201263-93201264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372531354	chr1:93201278-93201279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112764290	chr1:93201280-93201281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112710880	chr1:93201290-93201291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59605834	chr1:93201295-93201296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571876668	chr1:93201373-93201374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550910225	chr1:93201472-93201473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2065915	chr1:93201482-93201483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123600-93213400	Weak transcription	Gastric	stomach
3	chr1:93155800-93213400	Weak transcription	Lung	lung
4	chr1:93174400-93202000	Weak transcription	Fetal Heart	heart
5	chr1:93186600-93205600	Weak transcription	Ovary	ovary
6	chr1:93186800-93213400	Weak transcription	K562	blood
7	chr1:93188400-93202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:93188400-93205400	Weak transcription	Small Intestine	intestine
9	chr1:93188600-93203800	Weak transcription	HMEC	breast
10	chr1:93188800-93201000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:93189000-93203800	Weak transcription	Hela-S3	cervix
12	chr1:93189000-93213400	Weak transcription	Fetal Lung	lung
13	chr1:93189400-93204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:93189400-93206000	Weak transcription	Brain Anterior Caudate	brain
15	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:93190200-93220000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:93192400-93221200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
20	chr1:93193000-93200600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:93193000-93203800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:93193600-93200600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:93193600-93213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:93194600-93200600	Weak transcription	HSMM	muscle
26	chr1:93194600-93207400	Weak transcription	Osteobl	bone
27	chr1:93194600-93218000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:93195000-93201200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:93195000-93218000	Weak transcription	NHEK	skin
30	chr1:93196000-93202000	Weak transcription	Aorta	Aorta
31	chr1:93196200-93202400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:93196200-93203000	Weak transcription	HSMMtube	muscle
33	chr1:93196200-93213400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:93197600-93200600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:93197600-93210800	Weak transcription	Placenta	Placenta
36	chr1:93197800-93201000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:93198000-93200600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:93198000-93204000	Weak transcription	HUVEC	blood vessel
39	chr1:93198000-93205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:93198200-93200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:93198200-93202600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:93198200-93205000	Weak transcription	Primary B cells from cord blood	blood
43	chr1:93198200-93209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:93199000-93201000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:93199000-93201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:93199000-93202400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:93199200-93201000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:93199200-93201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:93199200-93202200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:93199400-93201000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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