Variant report

Variant	esv2761116
Chromosome Location	chr7:19092472-19136307
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:9)
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	chr7:19108873..19109612-chr7:105741975..105742841,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWIST1-1	chr7:19095674-19095789	XLOC_006364
2	lnc-HDAC9-7	chr7:19126081-19126636	NONHSAT119377
3	lnc-FERD3L-1	chr7:19132725-19133001	NONHSAT119378
4	lnc-HDAC9-6	chr7:19118903-19120419	NONHSAT119376
5	lnc-HDAC9-6	chr7:19118622-19118815	NONHSAT119376
6	lnc-HDAC9-7	chr7:19127929-19128064	NONHSAT119377
7	lnc-TWIST1-1	chr7:19095674-19095725	XLOC_006364
8	lnc-HDAC9-6	chr7:19118903-19120418	ucscGeneNc_uc003sul_1
9	lnc-HDAC9-6	chr7:19118622-19118815	ucscGeneNc_uc003sul_1

No data

Extended variants
information (count: 1835 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1835 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111395185	chr7:19092478-19092479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376569792	chr7:19092510-19092511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182840143	chr7:19092533-19092534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs552413124	chr7:19092534-19092535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539288848	chr7:19092545-19092546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552249422	chr7:19092552-19092553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186907189	chr7:19092583-19092584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139351539	chr7:19092585-19092586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552965986	chr7:19092588-19092589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556702198	chr7:19092592-19092593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575006060	chr7:19092598-19092599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372496117	chr7:19092629-19092630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201013734	chr7:19092630-19092631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575787609	chr7:19092643-19092644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143168437	chr7:19092644-19092645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564127515	chr7:19092647-19092648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79874306	chr7:19092661-19092662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2106723	chr7:19092697-19092698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114831275	chr7:19092716-19092717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528915066	chr7:19092779-19092780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560040669	chr7:19092781-19092782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372144323	chr7:19092819-19092820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147098366	chr7:19092888-19092889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532915173	chr7:19092894-19092895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551172038	chr7:19092912-19092913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115296230	chr7:19092947-19092948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573574725	chr7:19092952-19092953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374544567	chr7:19092966-19092967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546808215	chr7:19092978-19092979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192473550	chr7:19093059-19093060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535796201	chr7:19093060-19093061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112650836	chr7:19093062-19093063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113675411	chr7:19093064-19093065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188967067	chr7:19093066-19093067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367577314	chr7:19093086-19093087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80147789	chr7:19093156-19093157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545656556	chr7:19093297-19093298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112939266	chr7:19093309-19093310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80268795	chr7:19093310-19093311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184594711	chr7:19093333-19093334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573503110	chr7:19093339-19093340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189821945	chr7:19093346-19093347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181361567	chr7:19093365-19093366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138447657	chr7:19093429-19093430	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543866617	chr7:19093437-19093438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562762987	chr7:19093482-19093483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149278114	chr7:19093486-19093487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144431984	chr7:19093505-19093506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544777305	chr7:19093514-19093515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559894505	chr7:19093553-19093554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19082800-19100400	Weak transcription	HSMM	muscle
2	chr7:19086200-19101800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:19086600-19100000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:19090400-19094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:19091600-19094000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:19091800-19100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:19092200-19092600	ZNF genes & repeats	NHDF-Ad	bronchial
8	chr7:19092600-19093400	Weak transcription	NHDF-Ad	bronchial
9	chr7:19093400-19093800	Weak transcription	Aorta	Aorta
10	chr7:19093400-19094200	Enhancers	Placenta	Placenta
11	chr7:19093400-19097600	Strong transcription	NHDF-Ad	bronchial
12	chr7:19093800-19094200	ZNF genes & repeats	Aorta	Aorta
13	chr7:19094000-19094800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:19094800-19100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:19097200-19100400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:19097600-19100000	Weak transcription	NHDF-Ad	bronchial
17	chr7:19099200-19099600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:19100000-19101000	Enhancers	NHDF-Ad	bronchial
19	chr7:19100000-19101200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:19100000-19101200	Enhancers	HSMMtube	muscle
21	chr7:19100200-19101200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:19100200-19101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:19100400-19101000	Enhancers	HMEC	breast
24	chr7:19100400-19101000	Enhancers	NHEK	skin
25	chr7:19100400-19101200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:19100400-19101200	Enhancers	HSMM	muscle
27	chr7:19100400-19101400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:19101000-19101400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr7:19101200-19102000	Weak transcription	HSMMtube	muscle
30	chr7:19101200-19102200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:19101200-19105400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:19101200-19105400	Weak transcription	HSMM	muscle
33	chr7:19101400-19102800	Enhancers	NHDF-Ad	bronchial
34	chr7:19101400-19105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:19101800-19102200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:19102000-19102200	Enhancers	HSMMtube	muscle
37	chr7:19102000-19102400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:19102200-19102600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:19102200-19105600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:19102200-19105600	Weak transcription	HSMMtube	muscle
41	chr7:19102600-19118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:19102800-19106200	Weak transcription	NHDF-Ad	bronchial
43	chr7:19103000-19106400	Weak transcription	Osteobl	bone
44	chr7:19105200-19106400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:19105400-19106800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:19105400-19106800	Enhancers	HSMM	muscle
47	chr7:19105600-19105800	Enhancers	HSMMtube	muscle
48	chr7:19106200-19106600	Enhancers	NHDF-Ad	bronchial
49	chr7:19106400-19106600	Enhancers	Osteobl	bone
50	chr7:19106600-19109600	Weak transcription	Osteobl	bone

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