Variant report

Variant	nsv575929
Chromosome Location	chr17:66906217-66923711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:66906318-66906530	GM12878	blood:	n/a	n/a
2	CEBPB	chr17:66922793-66922820	HepG2	liver:	n/a	chr17:66922798-66922811 chr17:66922800-66922809 chr17:66922799-66922810 chr17:66922798-66922809
3	CEBPB	chr17:66916639-66916679	HepG2	liver:	n/a	chr17:66916653-66916664
4	CTCF	chr17:66907960-66908110	HCT-116	colon:	n/a	n/a
5	CTCF	chr17:66907925-66908107	GM12892	blood:	n/a	n/a
6	CTCF	chr17:66907824-66908131	A549	lung:	n/a	n/a
7	CTCF	chr17:66906428-66906605	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:66907880-66908030	AG04450	lung:	n/a	n/a
9	CTCF	chr17:66907920-66908070	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr17:66907973-66908114	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr17:66906440-66906590	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr17:66908000-66908150	GM06990	blood:	n/a	n/a
13	CTCF	chr17:66906540-66906690	Caco-2	colon:	n/a	n/a
14	CTCF	chr17:66907940-66908090	HMEC	breast:	n/a	n/a
15	CTCF	chr17:66907980-66908130	HCM	heart:	n/a	n/a
16	CTCF	chr17:66906480-66906630	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr17:66907940-66908090	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr17:66907920-66908070	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr17:66907933-66908151	LNCaP	prostate:	n/a	n/a
20	CTCF	chr17:66907953-66908155	Medullo	brain:	n/a	n/a
21	CTCF	chr17:66907940-66908090	HepG2	liver:	n/a	n/a
22	CTCF	chr17:66907960-66908110	NB4	blood:	n/a	n/a
23	CTCF	chr17:66907920-66908070	HCM	heart:	n/a	n/a
24	CTCF	chr17:66920980-66921130	GM12872	blood:	n/a	n/a
25	CTCF	chr17:66907960-66908110	HMEC	breast:	n/a	n/a
26	CTCF	chr17:66907940-66908090	GM12865	blood:	n/a	n/a
27	CTCF	chr17:66907920-66908070	AG10803	skin:	n/a	n/a
28	CTCF	chr17:66907959-66908124	HepG2	liver:	n/a	n/a
29	CTCF	chr17:66907914-66908157	MCF-7	breast:	n/a	n/a
30	CTCF	chr17:66907940-66908090	GM12873	blood:	n/a	n/a
31	CTCF	chr17:66906515-66906582	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr17:66907673-66908372	HCT-116	colon:	n/a	n/a
33	CTCF	chr17:66906525-66906591	K562	blood:	n/a	n/a
34	CTCF	chr17:66907980-66908130	RPTEC	kidney:	n/a	n/a
35	CTCF	chr17:66907940-66908090	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr17:66907772-66908393	A549	lung:	n/a	n/a
37	CTCF	chr17:66907940-66908090	HCFaa	heart:	n/a	n/a
38	CTCF	chr17:66907980-66908130	GM12871	blood:	n/a	n/a
39	CTCF	chr17:66907940-66908090	K562	blood:	n/a	n/a
40	CTCF	chr17:66907880-66908030	HVMF	connective:	n/a	n/a
41	CTCF	chr17:66907940-66908090	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr17:66907900-66908050	BE2_C	brain:	n/a	n/a
43	CTCF	chr17:66907940-66908090	GM12875	blood:	n/a	n/a
44	CTCF	chr17:66907920-66908070	GM12864	blood:	n/a	n/a
45	CTCF	chr17:66907960-66908110	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr17:66907960-66908110	HFF	foreskin:	n/a	n/a
47	CTCF	chr17:66907861-66908245	GM12878	blood:	n/a	n/a
48	CTCF	chr17:66907938-66908124	LNCaP	prostate:	n/a	n/a
49	CTCF	chr17:66907980-66908130	GM12872	blood:	n/a	n/a
50	CTCF	chr17:66906600-66906750	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:66915457..66918410-chr17:66918904..66921689,2	K562	blood:
2	chr17:66773260..66773836-chr17:66907708..66908473,2	MCF-7	breast:
3	chr17:66790300..66791288-chr17:66907471..66908085,3	MCF-7	breast:

No data

Variant related genes	Relation type
ABCA8	TF binding region
ENSG00000141338	chromatin interactions

Extended variants
information (count: 726 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6501853	chr17:66906217-66906218	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189025819	chr17:66906305-66906306	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181078031	chr17:66906308-66906309	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115504523	chr17:66906348-66906349	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577586985	chr17:66906362-66906363	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376755032	chr17:66906367-66906368	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555718911	chr17:66906429-66906430	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79413268	chr17:66906458-66906459	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534899977	chr17:66906529-66906530	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560174458	chr17:66906530-66906531	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571841431	chr17:66906537-66906538	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538832422	chr17:66906538-66906539	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544323671	chr17:66906560-66906561	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561777206	chr17:66906563-66906564	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529175549	chr17:66906594-66906595	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550919409	chr17:66906613-66906614	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116533024	chr17:66906644-66906645	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539403475	chr17:66906647-66906648	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs551404069	chr17:66906661-66906662	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77781928	chr17:66906680-66906681	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185510445	chr17:66906760-66906761	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73357329	chr17:66906765-66906766	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574185749	chr17:66906777-66906778	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190596149	chr17:66906783-66906784	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556406294	chr17:66906814-66906815	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545118676	chr17:66906873-66906874	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73998577	chr17:66906878-66906879	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1080499	chr17:66906879-66906880	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560333935	chr17:66906900-66906901	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572495513	chr17:66906914-66906915	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542791726	chr17:66906990-66906991	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141176144	chr17:66906997-66906998	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs529048778	chr17:66907007-66907008	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79523342	chr17:66907070-66907071	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1596314	chr17:66907074-66907075	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369981203	chr17:66907108-66907109	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74252545	chr17:66907111-66907112	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115620762	chr17:66907142-66907143	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34859933	chr17:66907151-66907152	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138346445	chr17:66907196-66907197	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566384590	chr17:66907197-66907198	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533870130	chr17:66907203-66907204	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149633073	chr17:66907256-66907257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs147299926	chr17:66907268-66907269	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538008997	chr17:66907364-66907365	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140877658	chr17:66907372-66907373	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577914492	chr17:66907417-66907418	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571216421	chr17:66907469-66907470	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181071489	chr17:66907477-66907478	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368436518	chr17:66907495-66907496	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
2	chr17:66881400-66906400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:66881400-66906400	Weak transcription	Right Ventricle	heart
4	chr17:66893200-66906400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr17:66893400-66906400	Weak transcription	Fetal Heart	heart
6	chr17:66899600-66906400	Weak transcription	Left Ventricle	heart
7	chr17:66899600-66906400	Weak transcription	Ovary	ovary
8	chr17:66902200-66907800	Enhancers	Brain Substantia Nigra	brain
9	chr17:66902400-66907800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:66902600-66906400	Enhancers	Brain Hippocampus Middle	brain
11	chr17:66902800-66908000	Enhancers	HepG2	liver
12	chr17:66903000-66907800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:66903200-66907000	Enhancers	HMEC	breast
14	chr17:66903200-66908200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr17:66903800-66907600	Enhancers	Colon Smooth Muscle	Colon
16	chr17:66904200-66907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:66904200-66907200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:66904200-66907400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:66904400-66906400	Weak transcription	Psoas Muscle	Psoas
20	chr17:66904400-66907200	Enhancers	Osteobl	bone
21	chr17:66904400-66907400	Enhancers	NHLF	lung
22	chr17:66904600-66906400	Enhancers	HUVEC	blood vessel
23	chr17:66904600-66906600	Enhancers	HSMMtube	muscle
24	chr17:66904600-66911600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:66904800-66906400	Enhancers	Adipose Nuclei	Adipose
26	chr17:66904800-66906800	Enhancers	Hela-S3	cervix
27	chr17:66905000-66906600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr17:66905000-66906600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr17:66905000-66907000	Enhancers	HSMM	muscle
30	chr17:66905200-66906400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:66905200-66906600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:66905200-66906600	Enhancers	Fetal Muscle Leg	muscle
33	chr17:66905200-66906600	Enhancers	K562	blood
34	chr17:66905200-66907000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr17:66905200-66907600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:66905200-66907800	Enhancers	Brain Cingulate Gyrus	brain
37	chr17:66905400-66906600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr17:66905400-66906600	Enhancers	NH-A	brain
39	chr17:66905400-66907200	Genic enhancers	Fetal Lung	lung
40	chr17:66905600-66906800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr17:66905600-66907000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:66905600-66907200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:66905600-66907200	Genic enhancers	Liver	Liver
44	chr17:66905600-66907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:66905600-66907400	Enhancers	NHEK	skin
46	chr17:66905600-66908200	Enhancers	Brain Angular Gyrus	brain
47	chr17:66905800-66907200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:66905800-66907400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:66905800-66907400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:66905800-66907800	Enhancers	NHDF-Ad	bronchial

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