Variant report

Variant	esv3315393
Chromosome Location	chr17:66562992-66565471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66561395..66563836-chr17:66567665..66570201,2	MCF-7	breast:
2	chr17:66549645..66553348-chr17:66560847..66563979,4	MCF-7	breast:
3	chr17:66508241..66510455-chr17:66561114..66563780,2	K562	blood:

Variant related genes	Relation type
ENSG00000108946	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570648931	chr17:66563030-66563031	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77456348	chr17:66563066-66563067	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191800266	chr17:66563067-66563068	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76988180	chr17:66563108-66563109	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535876528	chr17:66563131-66563132	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184341158	chr17:66563146-66563147	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200828902	chr17:66563147-66563148	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557373906	chr17:66563181-66563182	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77764074	chr17:66563194-66563195	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375830965	chr17:66563195-66563196	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144592510	chr17:66563207-66563208	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558120202	chr17:66563245-66563246	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368241965	chr17:66563264-66563265	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368100647	chr17:66563315-66563316	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58830788	chr17:66563369-66563370	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9893752	chr17:66563374-66563375	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567917628	chr17:66563381-66563382	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559068361	chr17:66563401-66563402	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139332116	chr17:66563419-66563420	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs68005369	chr17:66563459-66563460	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562961894	chr17:66563492-66563493	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189623877	chr17:66563667-66563668	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552450736	chr17:66563698-66563699	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202101144	chr17:66563713-66563714	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570616837	chr17:66563734-66563735	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528331241	chr17:66563745-66563746	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546817278	chr17:66563776-66563777	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs67717905	chr17:66563807-66563808	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539448781	chr17:66563840-66563841	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535966386	chr17:66563860-66563861	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144081486	chr17:66563877-66563878	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146457800	chr17:66563893-66563894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539408959	chr17:66563906-66563907	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558468756	chr17:66563907-66563908	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562947311	chr17:66563931-66563932	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573455207	chr17:66563986-66563987	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75623766	chr17:66563987-66563988	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532803597	chr17:66564003-66564004	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555525146	chr17:66564029-66564030	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371283867	chr17:66564076-66564077	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376148058	chr17:66564093-66564094	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573862943	chr17:66564113-66564114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541548023	chr17:66564148-66564149	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562998898	chr17:66564190-66564191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369377487	chr17:66564256-66564257	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200339103	chr17:66564290-66564291	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530538676	chr17:66564291-66564292	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557466206	chr17:66564336-66564337	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545475856	chr17:66564349-66564350	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11077624	chr17:66564363-66564364	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66534200-66563200	Weak transcription	Ovary	ovary
2	chr17:66538800-66575800	Weak transcription	Spleen	Spleen
3	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:66540200-66563400	Weak transcription	Placenta	Placenta
5	chr17:66544800-66563600	Weak transcription	Stomach Mucosa	stomach
6	chr17:66551800-66567400	Weak transcription	Fetal Stomach	stomach
7	chr17:66551800-66570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:66551800-66572000	Weak transcription	Gastric	stomach
9	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:66552000-66584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:66552000-66585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:66554600-66566400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:66558800-66566800	Weak transcription	Fetal Heart	heart
14	chr17:66560200-66563400	Weak transcription	Aorta	Aorta
15	chr17:66560200-66564000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:66561000-66563400	Weak transcription	Esophagus	oesophagus
17	chr17:66561000-66568200	Weak transcription	Lung	lung
18	chr17:66561200-66563400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:66561800-66563400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:66562000-66563600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr17:66562000-66563800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:66562000-66564000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:66562000-66564200	Enhancers	Liver	Liver
24	chr17:66562200-66563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:66562200-66563200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr17:66562400-66563000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:66562400-66564000	Enhancers	Osteobl	bone
28	chr17:66562400-66564400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:66562600-66564200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:66562600-66564200	Enhancers	HepG2	liver
31	chr17:66562800-66566800	Weak transcription	Fetal Lung	lung
32	chr17:66563000-66563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:66563200-66563600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr17:66563200-66563800	Enhancers	Ovary	ovary
35	chr17:66563400-66563600	Enhancers	Right Atrium	heart
36	chr17:66563400-66563800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:66563400-66563800	Enhancers	Aorta	Aorta
38	chr17:66563400-66564200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:66563400-66564200	Enhancers	Placenta	Placenta
40	chr17:66563600-66564000	Enhancers	Stomach Mucosa	stomach
41	chr17:66563600-66566000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:66563600-66568200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr17:66563600-66572400	Weak transcription	Right Atrium	heart
44	chr17:66563800-66565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:66563800-66568200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:66564000-66565400	Weak transcription	Stomach Mucosa	stomach
47	chr17:66564000-66566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:66564000-66568600	Weak transcription	Osteobl	bone
49	chr17:66564200-66566600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:66564200-66567800	Weak transcription	Liver	Liver

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