Variant report

Variant	esv3439368
Chromosome Location	chr7:110066050-110089223
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110064481..110066360-chr7:110081485..110083275,2	K562	blood:
2	chr7:109729852..109730963-chr7:110082075..110082714,4	MCF-7	breast:
3	chr7:109643549..109644198-chr7:110082097..110083094,2	MCF-7	breast:
4	chr7:109730201..109731073-chr7:110082423..110082955,4	MCF-7	breast:
5	chr7:109484123..109484950-chr7:110082483..110082993,2	MCF-7	breast:
6	chr7:110064481..110066360-chr7:110081485..110083275,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMMP2L-1	chr7:110072296-110072367	XLOC_006561
2	lnc-IMMP2L-1	chr7:110072868-110072963	XLOC_006561
3	lnc-IMMP2L-1	chr7:110072868-110072963	XLOC_006561

No data

Variant related genes	Relation type
RICTOR	miRNA target sites
RSPO1	miRNA target sites

Extended variants
information (count: 818 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202235952	chr7:110066071-110066072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397966262	chr7:110066074-110066075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34211958	chr7:110066088-110066089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531778239	chr7:110066092-110066093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550453830	chr7:110066093-110066094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565016292	chr7:110066096-110066097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554116936	chr7:110066125-110066126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113897388	chr7:110066157-110066158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547437731	chr7:110066191-110066192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567657214	chr7:110066244-110066245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191903194	chr7:110066334-110066335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184190546	chr7:110066368-110066369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550093684	chr7:110066402-110066403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570008554	chr7:110066429-110066430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368392069	chr7:110066454-110066455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76388963	chr7:110066509-110066510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565613599	chr7:110066543-110066544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376187280	chr7:110066551-110066552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66620769	chr7:110066554-110066555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187572597	chr7:110066601-110066602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147478500	chr7:110066611-110066612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191599023	chr7:110066648-110066649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539736722	chr7:110066687-110066688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576355687	chr7:110066716-110066717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558129437	chr7:110066717-110066718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183779893	chr7:110066764-110066765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140556567	chr7:110066893-110066894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527742172	chr7:110066894-110066895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144402034	chr7:110066977-110066978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6948951	chr7:110066980-110066981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530094986	chr7:110066993-110066994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56234551	chr7:110067047-110067048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78465606	chr7:110067048-110067049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187002243	chr7:110067142-110067143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569945862	chr7:110067151-110067152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372395939	chr7:110067194-110067195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6967164	chr7:110067208-110067209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76522441	chr7:110067215-110067216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573651495	chr7:110067260-110067261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144521847	chr7:110067281-110067282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375055861	chr7:110067287-110067288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540795065	chr7:110067299-110067300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535432052	chr7:110067303-110067304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559292953	chr7:110067314-110067315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554646612	chr7:110067338-110067339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1396177	chr7:110067344-110067345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544608290	chr7:110067350-110067351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564398583	chr7:110067379-110067380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371652253	chr7:110067398-110067399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571116667	chr7:110067468-110067469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110052400-110088000	Weak transcription	Dnd41	blood
2	chr7:110076000-110077600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:110082000-110083000	Enhancers	Fetal Heart	heart
4	chr7:110082200-110082600	Enhancers	Fetal Intestine Small	intestine
5	chr7:110082200-110082800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:110082200-110083000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:110082200-110083000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:110082800-110088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:110083000-110084400	Weak transcription	Fetal Heart	heart
10	chr7:110083000-110084800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:110083000-110088200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:110084400-110085000	Enhancers	Fetal Heart	heart
13	chr7:110084800-110085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:110084800-110085600	Enhancers	Ovary	ovary
15	chr7:110088200-110090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:110088600-110089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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