Variant report

Variant	esv1799828
Chromosome Location	chr17:67280310-67309039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:67296464-67296729	IMR90	lung:	n/a	chr17:67296597-67296608
2	CEBPB	chr17:67296434-67296630	H1-hESC	embryonic stem cell:	n/a	chr17:67296597-67296608
3	CEBPB	chr17:67296445-67296766	A549	lung:	n/a	chr17:67296597-67296608
4	CEBPB	chr17:67296425-67296785	HepG2	liver:	n/a	chr17:67296597-67296608
5	CEBPB	chr17:67304856-67305068	HepG2	liver:	n/a	chr17:67304945-67304956 chr17:67304945-67304958 chr17:67304947-67304958 chr17:67304945-67304958
6	CEBPB	chr17:67296470-67296794	A549	lung:	n/a	chr17:67296597-67296608
7	CEBPB	chr17:67296461-67296759	Hela-S3	cervix:	n/a	chr17:67296597-67296608
8	CEBPB	chr17:67296475-67296752	K562	blood:	n/a	chr17:67296597-67296608
9	CEBPB	chr17:67282439-67282997	Hela-S3	cervix:	n/a	chr17:67282905-67282916
10	CEBPB	chr17:67304909-67304998	A549	lung:	n/a	chr17:67304945-67304956 chr17:67304945-67304958 chr17:67304947-67304958 chr17:67304945-67304958
11	CTCF	chr17:67299317-67299392	MCF-7	breast:	n/a	n/a
12	CTCF	chr17:67299300-67299398	MCF-7	breast:	n/a	n/a
13	CTCF	chr17:67299322-67299377	MCF-7	breast:	n/a	n/a
14	CTCF	chr17:67296400-67296550	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr17:67305838-67305960	MCF-7	breast:	n/a	n/a
16	CTCF	chr17:67300084-67300127	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:67305863-67305943	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:67296443-67296450	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:67296456-67296458	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:67284346-67284466	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:67296462-67296495	MCF-7	breast:	n/a	n/a
22	E2F4	chr17:67280889-67281190	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr17:67282410-67282656	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr17:67304158-67304479	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr17:67282214-67282958	SK-N-SH	brain:	n/a	n/a
26	EP300	chr17:67283168-67283835	SK-N-SH	brain:	n/a	n/a
27	FAM48A	chr17:67307388-67307572	GM12878	blood:	n/a	n/a
28	FOS	chr17:67283338-67283715	MCF10A-Er-Src	breast:	n/a	chr17:67283529-67283540
29	FOS	chr17:67282349-67282875	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr17:67283344-67283712	MCF10A-Er-Src	breast:	n/a	chr17:67283529-67283540
31	FOS	chr17:67282394-67282857	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr17:67283356-67283676	HUVEC	blood vessel:	n/a	chr17:67283529-67283540
33	FOS	chr17:67283255-67283763	MCF10A-Er-Src	breast:	n/a	chr17:67283529-67283540
34	FOS	chr17:67282421-67282727	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr17:67283308-67283709	MCF10A-Er-Src	breast:	n/a	chr17:67283529-67283540
36	FOSL1	chr17:67283230-67283868	HCT-116	colon:	n/a	n/a
37	FOSL1	chr17:67283286-67283824	HCT-116	colon:	n/a	n/a
38	FOSL2	chr17:67283190-67283862	SK-N-SH	brain:	n/a	n/a
39	FOSL2	chr17:67282258-67282941	SK-N-SH	brain:	n/a	n/a
40	FOSL2	chr17:67282324-67282859	SK-N-SH	brain:	n/a	n/a
41	FOSL2	chr17:67283337-67283611	A549	lung:	n/a	n/a
42	FOSL2	chr17:67283221-67283721	A549	lung:	n/a	n/a
43	GATA3	chr17:67294266-67295026	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr17:67294502-67295017	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr17:67282190-67283010	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr17:67282307-67282438	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr17:67282161-67283042	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr17:67283170-67283874	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr17:67283282-67283792	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr17:67283360-67283520	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:67302832..67306346-chr17:67321797..67325175,5	MCF-7	breast:
2	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
3	chr17:67289223..67292742-chr17:67297917..67300838,3	MCF-7	breast:
4	chr17:67264212..67266413-chr17:67284250..67287050,2	K562	blood:
5	chr17:67304720..67306221-chr20:56847823..56849619,2	MCF-7	breast:
6	chr17:67305293..67307123-chr17:67307147..67309014,2	MCF-7	breast:
7	chr17:67307812..67310320-chr17:67310542..67312902,2	MCF-7	breast:
8	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:
9	chr17:67278548..67281186-chr17:67283240..67285256,2	K562	blood:
10	chr17:67290813..67292648-chr17:67293776..67295473,2	MCF-7	breast:
11	chr17:67296567..67298509-chr17:67301051..67302753,2	MCF-7	breast:
12	chr17:67278548..67281186-chr17:67283240..67285256,2	K562	blood:
13	chr17:67296567..67298509-chr17:67301051..67302753,2	MCF-7	breast:
14	chr17:67286096..67288972-chr17:67296420..67299153,2	MCF-7	breast:
15	chr17:67299583..67302487-chr17:67310542..67312734,2	MCF-7	breast:
16	chr17:67290813..67292648-chr17:67293776..67295473,2	MCF-7	breast:
17	chr17:67307415..67308999-chr17:67312227..67313741,2	MCF-7	breast:

Variant related genes	Relation type
ABCA5	TF binding region
ENSG00000124224	chromatin interactions
ENSG00000154265	chromatin interactions
ENSG00000267203	chromatin interactions

Extended variants
information (count: 1215 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564426	chr17:67280310-67280311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546921801	chr17:67280317-67280318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568322973	chr17:67280323-67280324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558109545	chr17:67280409-67280410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375607708	chr17:67280413-67280414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368017771	chr17:67280456-67280457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550519918	chr17:67280458-67280459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533159074	chr17:67280472-67280473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150171503	chr17:67280473-67280474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573505220	chr17:67280577-67280578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201770826	chr17:67280696-67280697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186899155	chr17:67280697-67280698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540201116	chr17:67280707-67280708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542306536	chr17:67280732-67280733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190362176	chr17:67280733-67280734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560012553	chr17:67280863-67280864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74395825	chr17:67280866-67280867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78585868	chr17:67280967-67280968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116972066	chr17:67281015-67281016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574239239	chr17:67281016-67281017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182953991	chr17:67281017-67281018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556556114	chr17:67281068-67281069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577950048	chr17:67281089-67281090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543641590	chr17:67281100-67281101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545532096	chr17:67281155-67281156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370466862	chr17:67281157-67281158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111529012	chr17:67281355-67281356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552556983	chr17:67281362-67281363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs967686	chr17:67281370-67281371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145662063	chr17:67281426-67281427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561986578	chr17:67281447-67281448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200135928	chr17:67281457-67281458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201279330	chr17:67281462-67281463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76734246	chr17:67281470-67281471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398031443	chr17:67281471-67281472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201150059	chr17:67281472-67281473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373937667	chr17:67281495-67281496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529213986	chr17:67281498-67281499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550583890	chr17:67281512-67281513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568873219	chr17:67281531-67281532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532243184	chr17:67281555-67281556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551064031	chr17:67281599-67281600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377490516	chr17:67281608-67281609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566189875	chr17:67281619-67281620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547726959	chr17:67281653-67281654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190132541	chr17:67281658-67281659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555511967	chr17:67281675-67281676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182787571	chr17:67281734-67281735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549947938	chr17:67281746-67281747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187757895	chr17:67281762-67281763	Weak transcription Strong transcription	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
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
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Basal cell lymphoma	17053054	CNVD
Acute monocytic leukemia	16498392	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:67236000-67283000	Weak transcription	Ovary	ovary
3	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
5	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
6	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
10	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
14	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:67265000-67289200	Weak transcription	Lung	lung
16	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:67266000-67282400	Weak transcription	HMEC	breast
18	chr17:67266200-67282000	Weak transcription	Hela-S3	cervix
19	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart
20	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:67266600-67282000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr17:67266800-67282400	Weak transcription	NHDF-Ad	bronchial
23	chr17:67267600-67283400	Weak transcription	HUVEC	blood vessel
24	chr17:67268600-67295400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
26	chr17:67270600-67289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:67271000-67289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:67271000-67298600	Weak transcription	Fetal Lung	lung
29	chr17:67271400-67296000	Weak transcription	Fetal Kidney	kidney
30	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:67272800-67282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:67272800-67289200	Weak transcription	Pancreas	Pancrea
33	chr17:67274600-67288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:67275800-67289200	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:67276200-67289200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
37	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
38	chr17:67277000-67283000	Weak transcription	Small Intestine	intestine
39	chr17:67277200-67289200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:67277600-67281000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:67277600-67283000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:67277600-67285200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:67277600-67286000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:67277600-67288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:67277600-67289000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:67277600-67289200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:67277600-67289200	Strong transcription	Liver	Liver
48	chr17:67277600-67293600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:67277800-67282000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:67277800-67282000	Weak transcription	NHEK	skin

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