Variant report

Variant	esv1802380
Chromosome Location	chr1:94272119-94291252
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:
2	chr1:94096882..94097807-chr1:94279318..94280136,2	MCF-7	breast:
3	chr1:94269224..94270816-chr1:94271541..94273859,2	MCF-7	breast:
4	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
5	chr1:94089082..94091665-chr1:94278876..94280669,2	MCF-7	breast:
6	chr1:93903297..93904174-chr1:94279235..94280195,4	K562	blood:
7	chr1:94278734..94280540-chr1:94311900..94313768,2	MCF-7	breast:
8	chr1:94093897..94096295-chr1:94277751..94279857,3	MCF-7	breast:
9	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:
10	chr1:94094533..94095758-chr1:94278266..94279023,3	MCF-7	breast:
11	chr1:94279426..94281422-chr1:94311178..94313738,2	K562	blood:
12	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:
13	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
14	chr1:94094814..94095807-chr1:94279301..94280178,3	MCF-7	breast:
15	chr1:94279220..94281682-chr1:94312143..94314528,3	K562	blood:
16	chr1:94094709..94095433-chr1:94279409..94280490,4	MCF-7	breast:
17	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
18	chr1:94094703..94095710-chr1:94279237..94280002,9	K562	blood:
19	chr1:94137739..94141828-chr1:94278104..94280351,3	MCF-7	breast:
20	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
21	chr1:94146007..94146592-chr1:94279239..94279807,2	MCF-7	breast:
22	chr1:94279712..94280219-chr1:94309586..94310428,2	MCF-7	breast:
23	chr1:94146643..94149409-chr1:94276998..94280390,3	MCF-7	breast:
24	chr1:94146952..94147507-chr1:94279666..94280655,2	MCF-7	breast:
25	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
26	chr1:94095273..94097251-chr1:94284521..94286111,2	MCF-7	breast:
27	chr1:94096488..94097857-chr1:94279258..94281095,8	MCF-7	breast:
28	chr1:94146662..94149106-chr1:94275928..94279554,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000211575	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000260464	chromatin interactions

Extended variants
information (count: 636 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12406729	chr1:94272119-94272120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184646687	chr1:94272146-94272147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74989321	chr1:94272176-94272177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530086392	chr1:94272199-94272200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575009613	chr1:94272202-94272203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376401673	chr1:94272280-94272281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140413065	chr1:94272317-94272318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145401185	chr1:94272351-94272352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530964203	chr1:94272362-94272363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546726375	chr1:94272404-94272405	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370485678	chr1:94272416-94272417	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564047439	chr1:94272540-94272541	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567145801	chr1:94272548-94272549	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528322475	chr1:94272571-94272572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138032521	chr1:94272579-94272580	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546410698	chr1:94272587-94272588	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374157012	chr1:94272662-94272663	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201937621	chr1:94272666-94272667	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567878137	chr1:94272684-94272685	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529036036	chr1:94272714-94272715	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368002304	chr1:94272726-94272727	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149520901	chr1:94272870-94272871	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532653593	chr1:94272920-94272921	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549532916	chr1:94273054-94273055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115806367	chr1:94273059-94273060	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372072946	chr1:94273140-94273141	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557431356	chr1:94273153-94273154	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571167915	chr1:94273168-94273169	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535309031	chr1:94273227-94273228	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569598449	chr1:94273309-94273310	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528876385	chr1:94273318-94273319	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187942455	chr1:94273378-94273379	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111960934	chr1:94273388-94273389	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371905891	chr1:94273406-94273407	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552905333	chr1:94273501-94273502	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76823831	chr1:94273588-94273589	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139710095	chr1:94273594-94273595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58816425	chr1:94273598-94273599	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2747048	chr1:94273599-94273600	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6696446	chr1:94273600-94273601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149951325	chr1:94273613-94273614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115916439	chr1:94273650-94273651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557468711	chr1:94273737-94273738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375946545	chr1:94273738-94273739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74101573	chr1:94273798-94273799	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546181790	chr1:94273806-94273807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185212775	chr1:94273891-94273892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572814174	chr1:94273915-94273916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs6692003	chr1:94273945-94273946	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34360108	chr1:94274004-94274005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94267600-94273400	Weak transcription	Lung	lung
2	chr1:94269800-94273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94270600-94272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94271000-94272600	Enhancers	Fetal Intestine Large	intestine
5	chr1:94271000-94279200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:94271200-94272200	Enhancers	HUVEC	blood vessel
7	chr1:94271200-94272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:94271200-94272800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94271200-94273000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:94271200-94273400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:94271200-94273400	Enhancers	Hela-S3	cervix
12	chr1:94271200-94275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:94271200-94275800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:94271200-94276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:94271200-94276000	Weak transcription	Placenta	Placenta
16	chr1:94271200-94276000	Weak transcription	Right Atrium	heart
17	chr1:94271200-94276000	Weak transcription	Right Ventricle	heart
18	chr1:94271200-94276600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:94271200-94276600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:94271200-94278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:94271400-94273200	Weak transcription	HMEC	breast
22	chr1:94271600-94272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:94271800-94273200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:94271800-94273400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:94272000-94272200	Enhancers	NHEK	skin
26	chr1:94272000-94276000	Weak transcription	HSMM	muscle
27	chr1:94272000-94276000	Weak transcription	NHLF	lung
28	chr1:94272200-94273000	Weak transcription	NHEK	skin
29	chr1:94272400-94273200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:94272400-94274800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:94272600-94272800	Weak transcription	Fetal Intestine Large	intestine
32	chr1:94272600-94273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94272800-94273000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:94273000-94273200	ZNF genes & repeats	NHEK	skin
35	chr1:94273000-94273600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:94273000-94274600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:94273200-94273600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94273200-94274400	ZNF genes & repeats	HMEC	breast
39	chr1:94273400-94273600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:94273400-94273600	Enhancers	Lung	lung
41	chr1:94273400-94274000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:94273400-94275800	Weak transcription	Hela-S3	cervix
43	chr1:94273600-94276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:94273600-94278600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:94273600-94282800	Weak transcription	Lung	lung
46	chr1:94273800-94274200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr1:94274000-94274600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:94274200-94274400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:94274200-94278200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:94274400-94274600	Weak transcription	Fetal Lung	lung

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