Variant report

Variant	esv2764016
Chromosome Location	chr7:17800816-17815402
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17809174..17809741-chr7:18384978..18385956,3	MCF-7	breast:
2	chr7:17809226..17810163-chr7:18190673..18191490,3	MCF-7	breast:
3	chr7:17808606..17813433-chr7:17978670..17983047,5	MCF-7	breast:
4	chr7:17746176..17747035-chr7:17809147..17809719,2	MCF-7	breast:
5	chr7:17809328..17810064-chr7:18159241..18160084,2	MCF-7	breast:
6	chr7:17808922..17810255-chr7:18031435..18032608,6	K562	blood:
7	chr7:17809237..17810176-chr7:18360328..18361291,2	MCF-7	breast:
8	chr7:17807547..17809611-chr7:17978933..17980881,2	MCF-7	breast:
9	chr7:17811330..17814025-chr7:17979627..17981525,2	MCF-7	breast:
10	chr7:17809077..17810066-chr7:17952679..17953584,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-11	chr7:17812631-17814939	NONHSAT119344

No data

Variant related genes	Relation type
ENSG00000071189	chromatin interactions
ENSG00000048052	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574798730	chr7:17802414-17802415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77154367	chr7:17802450-17802451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563485597	chr7:17802453-17802454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543006340	chr7:17802465-17802466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562956039	chr7:17802492-17802493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575552863	chr7:17802527-17802528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546019965	chr7:17802551-17802552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76088705	chr7:17802578-17802579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141530089	chr7:17802611-17802612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546295029	chr7:17802663-17802664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561697910	chr7:17802669-17802670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191863297	chr7:17802673-17802674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550820585	chr7:17802709-17802710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569195942	chr7:17802721-17802722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150523950	chr7:17802726-17802727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139520933	chr7:17802758-17802759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370655618	chr7:17802793-17802794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566884879	chr7:17802799-17802800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542889156	chr7:17802807-17802808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534261334	chr7:17802851-17802852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547017594	chr7:17802872-17802873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555498629	chr7:17802878-17802879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574034383	chr7:17802898-17802899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79567764	chr7:17802974-17802975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375317342	chr7:17802989-17802990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2723524	chr7:17802993-17802994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539108459	chr7:17803004-17803005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144350446	chr7:17803032-17803033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370919270	chr7:17803081-17803082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528624600	chr7:17803126-17803127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147770949	chr7:17803130-17803131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368453749	chr7:17803141-17803142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564273217	chr7:17803147-17803148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139487792	chr7:17803170-17803171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540277340	chr7:17803191-17803192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561357429	chr7:17803201-17803202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199696740	chr7:17803229-17803230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543801375	chr7:17803237-17803238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2537584	chr7:17803238-17803239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533430655	chr7:17803253-17803254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551695089	chr7:17803272-17803273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565249925	chr7:17803281-17803282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78581943	chr7:17803299-17803300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555595069	chr7:17803302-17803303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527784794	chr7:17803306-17803307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34185946	chr7:17803324-17803325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549499026	chr7:17803331-17803332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113425973	chr7:17803338-17803339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567760833	chr7:17803366-17803367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10237993	chr7:17803372-17803373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17802400-17803400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:17809200-17809800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:17809200-17813800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:17809400-17809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:17809400-17809800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:17809400-17810800	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:17809400-17810800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:17809400-17811000	Enhancers	Fetal Heart	heart
9	chr7:17809600-17810000	Enhancers	Liver	Liver
10	chr7:17809600-17810600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:17809600-17810800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:17809800-17810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:17809800-17810200	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:17809800-17810200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:17809800-17810200	Enhancers	Brain Hippocampus Middle	brain
16	chr7:17809800-17810600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:17809800-17811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:17809800-17811000	Enhancers	Primary B cells from cord blood	blood
19	chr7:17809800-17811200	Enhancers	NHEK	skin
20	chr7:17809800-17811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:17809800-17812600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:17810000-17811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:17810000-17812600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:17810200-17810400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:17810200-17810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr7:17810200-17810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:17810200-17810600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:17810200-17810800	Enhancers	HSMM	muscle
29	chr7:17810200-17811200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:17810200-17812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:17810200-17815000	Enhancers	HMEC	breast
32	chr7:17810400-17810600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:17810400-17810600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:17810400-17811400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:17810400-17811600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:17810600-17810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:17810600-17810800	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:17810600-17810800	Enhancers	Fetal Stomach	stomach
39	chr7:17810600-17811200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:17810600-17811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:17810600-17811400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr7:17810600-17811800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:17810600-17812000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:17810600-17812400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:17810800-17811800	Weak transcription	Fetal Stomach	stomach
46	chr7:17810800-17812000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:17810800-17812000	Weak transcription	HSMM	muscle
48	chr7:17810800-17813400	Enhancers	Thymus	Thymus
49	chr7:17811000-17811600	Flanking Active TSS	Fetal Heart	heart
50	chr7:17811000-17812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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