Variant report

Variant	esv2762804
Chromosome Location	chr9:24553117-24631812
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:1)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:24613953..24614528-chr9:25350122..25350850,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-7	chr9:24590269-24590449	XLOC_007304
2	lnc-DMRTA1-7	chr9:24561325-24561428	XLOC_007304
3	lnc-DMRTA1-7	chr9:24591877-24592081	XLOC_007304
4	lnc-DMRTA1-7	chr9:24561754-24561848	ENSG00000269957.1
5	lnc-DMRTA1-7	chr9:24591877-24592305	XLOC_007304
6	lnc-DMRTA1-7	chr9:24590269-24590449	ENSG00000269957.1
7	lnc-DMRTA1-7	chr9:24590269-24590449	XLOC_007304
8	lnc-DMRTA1-7	chr9:24552919-24553237	ENSG00000269957.1
9	lnc-DMRTA1-7	chr9:24561754-24561848	XLOC_007304
10	lnc-DMRTA1-7	chr9:24591877-24591991	ENSG00000269957.1
11	lnc-DMRTA1-7	chr9:24561754-24561848	XLOC_007304
12	lnc-DMRTA1-7	chr9:24591877-24592081	XLOC_007304
13	lnc-DMRTA1-7	chr9:24561754-24561848	XLOC_007304
14	lnc-DMRTA1-7	chr9:24590269-24590449	XLOC_007304

No data

Variant related genes	Relation type
MAP3K3	miRNA target sites
MAP3K7	miRNA target sites
MAP3K4	miRNA target sites
FRS2	miRNA target sites

Extended variants
information (count: 2111 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:2111 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112740732	chr9:24553129-24553130	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs78440845	chr9:24553151-24553152	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143000507	chr9:24553206-24553207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537454424	chr9:24553211-24553212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs147025269	chr9:24553218-24553219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs532952399	chr9:24561328-24561329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs73652297	chr9:24561336-24561337	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73652298	chr9:24561337-24561338	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377512533	chr9:24561349-24561350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs529033061	chr9:24561358-24561359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377612578	chr9:24561363-24561364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79338008	chr9:24561368-24561369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs140581351	chr9:24561386-24561387	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537631170	chr9:24561400-24561401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs529703313	chr9:24561407-24561408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs182361970	chr9:24561760-24561761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs184996674	chr9:24561768-24561769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191024467	chr9:24561784-24561785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs114244038	chr9:24561785-24561786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs144386715	chr9:24561802-24561803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs576559894	chr9:24561814-24561815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs1162600	chr9:24561847-24561848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs2772574	chr9:24571636-24571637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552907702	chr9:24571681-24571682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533688501	chr9:24571703-24571704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146967861	chr9:24571727-24571728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535035800	chr9:24571729-24571730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554702327	chr9:24571730-24571731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568422982	chr9:24571767-24571768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74483887	chr9:24571775-24571776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74624749	chr9:24571791-24571792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145967319	chr9:24571804-24571805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576628688	chr9:24571831-24571832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs118065910	chr9:24571835-24571836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200950859	chr9:24571838-24571839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552865437	chr9:24571842-24571843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572834713	chr9:24571890-24571891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542084622	chr9:24571919-24571920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137889796	chr9:24571963-24571964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113928436	chr9:24571968-24571969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189697696	chr9:24571989-24571990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112286324	chr9:24572009-24572010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181237377	chr9:24572023-24572024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543356956	chr9:24572051-24572052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117986772	chr9:24572053-24572054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370342363	chr9:24572065-24572066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371751180	chr9:24572073-24572074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560579735	chr9:24572085-24572086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376561230	chr9:24572093-24572094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552772763	chr9:24572180-24572181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24553000-24553200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr9:24571600-24571800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:24571800-24572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:24571800-24580000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:24572200-24572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:24572200-24573200	Enhancers	Adipose Nuclei	Adipose
7	chr9:24572600-24573400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:24580000-24580200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:24580000-24580400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:24580000-24580400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:24580000-24580400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr9:24580000-24580400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:24580000-24580600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:24580000-24580600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:24580000-24580600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr9:24580000-24580600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:24580000-24580600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:24580200-24580600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr9:24580200-24580600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:24580400-24580600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:24580600-24580800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:24580600-24580800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:24580600-24581400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:24582200-24582800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:24582200-24582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:24582400-24582600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:24582600-24583000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr9:24582800-24585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:24585600-24585800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:24585800-24592200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:24590400-24591400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:24590600-24590800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:24590600-24591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:24590600-24592600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:24590600-24592800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr9:24590600-24593000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:24590800-24591400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:24590800-24591400	Enhancers	HMEC	breast
39	chr9:24591400-24592200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr9:24591400-24593000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:24591600-24592400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:24591800-24592600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:24592200-24592400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:24592200-24592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:24592200-24592800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:24592400-24592800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:24592400-24592800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:24592400-24595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:24592600-24596200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:24592600-24596600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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