Variant report

Variant	esv2422432
Chromosome Location	chr1:72821856-73148651
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:19)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
2	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
3	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
4	chr1:73113182..73114702-chr17:56734945..56736988,2	K562	blood:
5	chr1:73121352..73124244-chr1:73125814..73128395,2	K562	blood:
6	chr1:73113202..73113702-chr17:56736134..56736899,3	MCF-7	breast:
7	chr1:73113202..73114702-chr17:56735176..56736818,3	MCF-7	breast:
8	chr1:73115458..73117504-chr1:73118558..73120505,2	K562	blood:
9	chr1:73121352..73124244-chr1:73125814..73128395,2	K562	blood:
10	chr1:72940829..72943302-chr1:72953115..72955886,2	K562	blood:
11	chr1:72900602..72902220-chr1:72902664..72904300,2	K562	blood:
12	chr1:73113182..73113702-chr17:56736111..56737064,10	MCF-7	breast:
13	chr1:73115458..73117504-chr1:73118558..73120505,2	K562	blood:
14	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:
15	chr1:72900602..72902220-chr1:72902664..72904300,2	K562	blood:
16	chr1:73113182..73114702-chr17:56735103..56736837,5	MCF-7	breast:
17	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
18	chr1:72863619..72864264-chr11:65396606..65397388,2	MCF-7	breast:
19	chr1:72940829..72943302-chr1:72953115..72955886,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-4	chr1:73089021-73089071	NONHSAT003911
2	lnc-NEGR1-4	chr1:73137300-73137411	NONHSAT003911
3	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
4	lnc-NEGR1-4	chr1:73137038-73137154	NONHSAT003911
5	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
6	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912
7	lnc-FPGT-12	chr1:73013542-73013815	NONHSAT003912
8	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
9	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
10	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912
11	lnc-NEGR1-4	chr1:72937285-72937450	l_72_chr1:72935741-72937450_testes
12	lnc-NEGR1-4	chr1:72987192-72987299	NONHSAT003911
13	lnc-NEGR1-3	chr1:72972500-72972595	NONHSAT003910
14	lnc-NEGR1-4	chr1:72935742-72936076	l_72_chr1:72935741-72937450_testes
15	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
16	lnc-NEGR1-3	chr1:72970822-72971029	NONHSAT003910
17	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
18	lnc-NEGR1-4	chr1:72939211-72939334	l_72_chr1:72935741-72937450_testes
19	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
20	lnc-NEGR1-4	chr1:72987437-72987547	NONHSAT003911
21	lnc-NEGR1-4	chr1:73003139-73003208	l_72_chr1:72935741-72937450_testes
22	lnc-NEGR1-4	chr1:72987437-72987547	l_72_chr1:72935741-72937450_testes

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 6073 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:6073 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555486841	chr1:72822832-72822833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575225190	chr1:72822867-72822868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550149704	chr1:72822875-72822876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112120065	chr1:72822898-72822899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114340685	chr1:72822916-72822917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137935824	chr1:72822917-72822918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533217956	chr1:72822936-72822937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540075536	chr1:72823043-72823044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149532205	chr1:72823057-72823058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554601673	chr1:72823098-72823099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529180863	chr1:72823140-72823141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560253614	chr1:72823147-72823148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568916235	chr1:72823216-72823217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527402947	chr1:72823305-72823306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146034794	chr1:72823333-72823334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs990870	chr1:72823390-72823391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185281034	chr1:72823408-72823409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143377405	chr1:72823448-72823449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146319498	chr1:72823452-72823453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567262089	chr1:72823569-72823570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115381238	chr1:72823570-72823571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189984318	chr1:72823576-72823577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148531004	chr1:72823584-72823585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556023589	chr1:72823594-72823595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1350768	chr1:72823636-72823637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544213162	chr1:72823677-72823678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183301941	chr1:72823688-72823689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs990871	chr1:72823713-72823714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
29	rs142897314	chr1:72823714-72823715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116557084	chr1:72823737-72823738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188835868	chr1:72823745-72823746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571218705	chr1:72824022-72824023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551581926	chr1:72824039-72824040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527404209	chr1:72824043-72824044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547460768	chr1:72824062-72824063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371774796	chr1:72824155-72824156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567000696	chr1:72824241-72824242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9628618	chr1:72824262-72824263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111978913	chr1:72824285-72824286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78048377	chr1:72824304-72824305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555645858	chr1:72824322-72824323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12031577	chr1:72824330-72824331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569230446	chr1:72824352-72824353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538101539	chr1:72824398-72824399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144948167	chr1:72831224-72831225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545684986	chr1:72831247-72831248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564171378	chr1:72831256-72831257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533126307	chr1:72831292-72831293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540190132	chr1:72831298-72831299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560409963	chr1:72831326-72831327	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72822800-72823200	Enhancers	HMEC	breast
2	chr1:72823000-72823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:72823000-72823600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:72823400-72823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:72824000-72824400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:72831200-72832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:72831200-72833000	Enhancers	Dnd41	blood
8	chr1:72831200-72833200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:72831400-72832600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:72831400-72832600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:72831400-72832800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:72831400-72833000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:72831600-72832400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:72831600-72832400	Enhancers	HMEC	breast
15	chr1:72831600-72832400	Enhancers	HSMM	muscle
16	chr1:72831600-72832800	Enhancers	Hela-S3	cervix
17	chr1:72831600-72833000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:72832000-72832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:72832000-72832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:72832000-72832400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:72832000-72832600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:72832000-72832600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:72832000-72832600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:72832000-72832600	Enhancers	Liver	Liver
25	chr1:72832000-72832800	Enhancers	NHEK	skin
26	chr1:72832200-72832400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr1:72832200-72832600	Enhancers	Primary T cells from cord blood	blood
28	chr1:72832400-72832600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:72832400-72833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:72832400-72836800	Weak transcription	HMEC	breast
31	chr1:72832400-72837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:72832600-72832800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:72832800-72833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:72832800-72834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:72832800-72837200	Weak transcription	NHEK	skin
36	chr1:72832800-72837400	Weak transcription	Hela-S3	cervix
37	chr1:72833000-72834000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:72833000-72834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:72833000-72834800	Weak transcription	Dnd41	blood
40	chr1:72833200-72835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:72833200-72837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:72834800-72835000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:72834800-72835200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:72834800-72837800	Enhancers	Dnd41	blood
45	chr1:72835000-72835200	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:72835000-72835400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:72835000-72835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:72835000-72837000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:72835200-72835600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:72835400-72835600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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