Variant report

Variant	esv2759517
Chromosome Location	chr7:19396146-19620962
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:13)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:19400460..19402875-chr7:19412134..19413923,2	K562	blood:
2	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
3	chr1:102456863..102457700-chr7:19592037..19592862,2	MCF-7	breast:
4	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
5	chr7:18732759..18733606-chr7:19591000..19591516,2	MCF-7	breast:
6	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
7	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:
8	chr7:19400460..19402875-chr7:19412134..19413923,2	K562	blood:
9	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
10	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:
11	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:
12	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
13	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-12	chr7:19584677-19584754	NONHSAT119386
2	lnc-HDAC9-5	chr7:19443324-19443386	ENSG00000223838
3	lnc-HDAC9-5	chr7:19618152-19618229	ENSG00000223838
4	lnc-HDAC9-12	chr7:19411480-19411518	NONHSAT119386
5	lnc-HDAC9-5	chr7:19615910-19616041	ENSG00000223838
6	lnc-HDAC9-5	chr7:19444955-19444993	ENSG00000223838
7	lnc-HDAC9-12	chr7:19409849-19409911	NONHSAT119386
8	lnc-HDAC9-12	chr7:19582435-19582566	NONHSAT119386

No data

Extended variants
information (count: 7265 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:7265 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182094839	chr7:19401056-19401057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541436233	chr7:19401102-19401103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528968851	chr7:19401106-19401107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560072789	chr7:19401107-19401108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562448485	chr7:19401122-19401123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187406562	chr7:19401124-19401125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568597852	chr7:19401144-19401145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73258425	chr7:19401184-19401185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551356216	chr7:19401188-19401189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189833248	chr7:19401212-19401213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534053588	chr7:19401227-19401228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536372316	chr7:19401228-19401229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371394589	chr7:19401269-19401270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375209525	chr7:19401279-19401280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369569966	chr7:19401286-19401287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143208886	chr7:19401297-19401298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181653757	chr7:19401346-19401347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573853522	chr7:19401366-19401367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538014727	chr7:19401367-19401368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75101325	chr7:19401430-19401431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575799200	chr7:19401438-19401439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545923428	chr7:19401441-19401442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35706239	chr7:19401447-19401448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115808419	chr7:19401474-19401475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547592158	chr7:19401543-19401544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546926245	chr7:19401559-19401560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561965434	chr7:19401579-19401580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568382775	chr7:19401615-19401616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529481713	chr7:19401635-19401636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148243587	chr7:19401728-19401729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77651905	chr7:19401838-19401839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141235139	chr7:19401861-19401862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551099967	chr7:19401998-19401999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550477568	chr7:19402019-19402020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570777919	chr7:19402020-19402021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150351290	chr7:19402050-19402051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549327921	chr7:19402086-19402087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138292485	chr7:19402087-19402088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76011442	chr7:19402102-19402103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79496813	chr7:19402103-19402104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75690235	chr7:19402104-19402105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117746945	chr7:19402120-19402121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185588784	chr7:19402133-19402134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569255149	chr7:19402232-19402233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539878215	chr7:19402249-19402250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142872516	chr7:19402289-19402290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376687032	chr7:19402294-19402295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573160663	chr7:19402307-19402308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540241267	chr7:19402329-19402330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570666025	chr7:19402366-19402367	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19401000-19403200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:19401600-19402200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:19401600-19402400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:19401600-19402400	Enhancers	NHDF-Ad	bronchial
5	chr7:19401800-19402200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:19401800-19402400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:19401800-19402400	Enhancers	Brain Hippocampus Middle	brain
8	chr7:19402000-19402400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:19402000-19402600	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:19402000-19402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:19402400-19402800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:19402400-19407600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:19402400-19407600	Weak transcription	NHDF-Ad	bronchial
14	chr7:19402600-19406000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:19404000-19406000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:19404200-19404400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:19404200-19404800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:19404200-19404800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:19404200-19405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:19404200-19406000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:19404200-19406200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:19404400-19404800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:19404400-19405000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:19404400-19405000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:19404400-19408200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:19404800-19405200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:19404800-19407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:19404800-19408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:19405000-19405200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr7:19405000-19408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:19405200-19406400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:19405200-19408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:19405200-19408400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:19406000-19406400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:19406000-19408200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:19406000-19408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:19406200-19408000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:19406400-19407800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:19407200-19407800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:19407600-19408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:19407600-19408000	Enhancers	NHDF-Ad	bronchial
42	chr7:19407800-19408000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:19407800-19408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:19407800-19408000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:19407800-19409600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:19408000-19408400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:19408000-19408400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:19408000-19408400	Enhancers	Adipose Nuclei	Adipose
49	chr7:19408000-19408400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:19408000-19408600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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