Variant report

Variant	nsv960057
Chromosome Location	chr17:15408579-15411759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr17:15409665-15409900	HepG2	liver:	n/a	n/a
2	HEY1	chr17:15409830-15409955	HepG2	liver:	n/a	n/a
3	HEY1	chr17:15409812-15409995	K562	blood:	n/a	n/a
4	POLR2A	chr17:15410416-15410775	K562	blood:	n/a	n/a
5	POLR2A	chr17:15409840-15410019	K562	blood:	n/a	n/a
6	POLR2A	chr17:15409819-15409945	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:15408631-15408912	K562	blood:	n/a	n/a
8	TCF3	chr17:15409135-15409400	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15410234-15410284	GM12891	blood:	n/a
2	chr17:15410234-15410284	HCF	heart:	n/a
3	chr17:15410234-15410284	SK-N-SH_RA	brain:	n/a
4	chr17:15410234-15410284	GM12892	blood:	n/a
5	chr17:15410234-15410284	GM06990	blood:	n/a
6	chr17:15410234-15410284	BE2_C	brain:	n/a
7	chr17:15410234-15410284	A549	lung:	n/a
8	chr17:15410234-15410284	T-47D	breast:	n/a
9	chr17:15410234-15410284	HAEpiC	amniotic membrane:	n/a
10	chr17:15410234-15410284	BJ	skin:	n/a
11	chr17:15410234-15410284	SK-N-MC	brain:	n/a
12	chr17:15410234-15410284	NH-A	brain:	n/a
13	chr17:15410234-15410284	HMEC	breast:	n/a
14	chr17:15410234-15410284	Hepatocyte	liver:	n/a
15	chr17:15410234-15410284	MCF10A-Er-Src	breast:	n/a
16	chr17:15410234-15410284	K562	blood:	n/a
17	chr17:15410234-15410284	AoSMC	blood vessel:	n/a
18	chr17:15410234-15410284	AG04450	lung:	fetal
19	chr17:15410234-15410284	HCT-116	colon:	n/a
20	chr17:15410234-15410284	GM12878	blood:	n/a
21	chr17:15410234-15410284	Caco-2	colon:	n/a
22	chr17:15410234-15410284	HepG2	liver:	n/a
23	chr17:15410234-15410284	Hela-S3	cervix:	n/a
24	chr17:15410234-15410284	CMK	blood:	n/a
25	chr17:15410234-15410284	AG10803	skin:	n/a
26	chr17:15410234-15410284	ECC-1	luminal epithelium:	n/a
27	chr17:15410234-15410284	U87	brain:	n/a
28	chr17:15410234-15410284	PFSK-1	brain:	n/a
29	chr17:15410234-15410284	HRE	kidney:	n/a
30	chr17:15410234-15410284	AG09319	gingival:	n/a
31	chr17:15410234-15410284	PrEC	prostate:	n/a
32	chr17:15410234-15410284	GM19239	blood:	n/a
33	chr17:15410234-15410284	NHBE	bronchial:	n/a
34	chr17:15410234-15410284	MCF-7	breast:	n/a
35	chr17:15410234-15410284	HIPEpiC	eye:	n/a
36	chr17:15410234-15410284	HUVEC	blood vessel:	n/a
37	chr17:15410234-15410284	ovcar-3	ovarian:	n/a
38	chr17:15410234-15410284	AG04449	skin:	fetal
39	chr17:15410234-15410284	HCM	heart:	n/a
40	chr17:15410234-15410284	ProgFib	skin:	n/a
41	chr17:15410234-15410284	SAEC	small airway:	n/a
42	chr17:15410234-15410284	SKMC	muscle:	n/a
43	chr17:15410234-15410284	HL-60	blood:	n/a
44	chr17:15410234-15410284	PANC-1	pancreas:	n/a
45	chr17:15410234-15410284	NT2-D1	testis:	n/a
46	chr17:15410234-15410284	HRCEpiC	kidney:	n/a
47	chr17:15410234-15410284	Jurkat	blood:	n/a
48	chr17:15410234-15410284	LNCaP	prostate:	n/a
49	chr17:15410234-15410284	IMR90	lung:	fetal
50	chr17:15410234-15410284	HCPEpiC	choroid plexus:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15405961..15408797-chr17:15411656..15413886,2	K562	blood:
2	chr17:15411701..15413782-chr17:15416873..15418569,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF286A-9	chr17:15410180-15410668	NONHSAT145828

No data

Variant related genes	Relation type
ENSG00000223878	TF binding region
CDRT4	TF binding region
ENSG00000223878	CpG island
CDRT4	CpG island
ENSG00000239704	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543509701	chr17:15408605-15408606	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143570697	chr17:15408629-15408630	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113465083	chr17:15408633-15408634	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs540705006	chr17:15408675-15408676	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs191981788	chr17:15408694-15408695	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs146883150	chr17:15408698-15408699	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs140702953	chr17:15408724-15408725	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs184536180	chr17:15408725-15408726	Weak transcription Genic enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs532945010	chr17:15408842-15408843	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs73289536	chr17:15408844-15408845	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150457261	chr17:15408894-15408895	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs529894480	chr17:15408990-15408991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187671829	chr17:15409021-15409022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548693368	chr17:15409024-15409025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567515145	chr17:15409053-15409054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529867845	chr17:15409070-15409071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36061080	chr17:15409085-15409086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561902377	chr17:15409089-15409090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34612294	chr17:15409119-15409120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56056503	chr17:15409123-15409124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397706351	chr17:15409124-15409125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569900911	chr17:15409144-15409145	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs12451284	chr17:15409151-15409152	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs115025267	chr17:15409152-15409153	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs191747231	chr17:15409158-15409159	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs149188782	chr17:15409162-15409163	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs554237343	chr17:15409176-15409177	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs574692980	chr17:15409199-15409200	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs543568975	chr17:15409202-15409203	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs557385068	chr17:15409203-15409204	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs577437906	chr17:15409208-15409209	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs112175654	chr17:15409265-15409266	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs546156840	chr17:15409318-15409319	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs559740017	chr17:15409321-15409322	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs8064369	chr17:15409322-15409323	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368815808	chr17:15409324-15409325	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs542346290	chr17:15409348-15409349	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs562124012	chr17:15409355-15409356	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs529932931	chr17:15409361-15409362	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs184906893	chr17:15409362-15409363	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs569731650	chr17:15409386-15409387	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs532473402	chr17:15409395-15409396	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs552177167	chr17:15409414-15409415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8064272	chr17:15409434-15409435	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557383179	chr17:15409453-15409454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531844816	chr17:15409477-15409478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567780862	chr17:15409532-15409533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537267485	chr17:15409535-15409536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557560120	chr17:15409555-15409556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577351007	chr17:15409563-15409564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
2	chr17:15383400-15455000	Weak transcription	Gastric	stomach
3	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
4	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
5	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
10	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
11	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:15398800-15408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:15399000-15408800	Strong transcription	HepG2	liver
14	chr17:15400800-15413000	Weak transcription	NH-A	brain
15	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
16	chr17:15402800-15410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:15403000-15410200	Weak transcription	Fetal Brain Female	brain
18	chr17:15405400-15410200	Weak transcription	Primary T cells from cord blood	blood
19	chr17:15405400-15418200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:15405400-15419000	Weak transcription	Liver	Liver
21	chr17:15405600-15410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:15405600-15411200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:15406000-15410200	Weak transcription	Fetal Intestine Large	intestine
24	chr17:15406000-15411600	Weak transcription	Lung	lung
25	chr17:15406000-15411800	Weak transcription	HSMMtube	muscle
26	chr17:15406000-15416800	Weak transcription	K562	blood
27	chr17:15406200-15409000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:15406200-15411400	Weak transcription	Ovary	ovary
29	chr17:15406200-15414600	Weak transcription	Brain Angular Gyrus	brain
30	chr17:15406200-15414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:15406200-15416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:15406200-15420600	Weak transcription	Colonic Mucosa	Colon
33	chr17:15406600-15410000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:15406600-15410000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr17:15406600-15410200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:15406600-15410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:15406600-15410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:15406600-15410200	Weak transcription	Brain Germinal Matrix	brain
39	chr17:15406600-15410400	Weak transcription	Fetal Heart	heart
40	chr17:15406600-15411400	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:15406600-15411400	Weak transcription	Left Ventricle	heart
42	chr17:15406600-15411400	Weak transcription	NHDF-Ad	bronchial
43	chr17:15406600-15411400	Weak transcription	NHLF	lung
44	chr17:15406600-15411600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:15406600-15411800	Weak transcription	Right Atrium	heart
46	chr17:15406600-15412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:15406600-15412800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr17:15406600-15413200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr17:15406600-15413400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:15406600-15413400	Weak transcription	Muscle Satellite Cultured Cells	--

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