Variant report

Variant	nsv604156
Chromosome Location	chr6:93572081-93615450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:93602342-93602708	MCF-7	breast:	n/a	n/a
2	CEBPB	chr6:93602335-93602744	MCF-7	breast:	n/a	n/a
3	CEBPB	chr6:93602337-93602696	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr6:93609920-93610070	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr6:93581902-93581951	Lung_OC	lung:	n/a	n/a
6	CTCF	chr6:93574508-93574758	GM12878	blood:	n/a	n/a
7	CTCF	chr6:93610212-93610277	GM20000	blood:	n/a	n/a
8	CTCF	chr6:93613560-93613710	GM12878	blood:	n/a	n/a
9	CTCF	chr6:93603220-93603370	HRE	kidney:	n/a	n/a
10	CTCF	chr6:93574520-93574670	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:93574500-93574650	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:93592943-93592961	GM20000	blood:	n/a	n/a
13	CTCF	chr6:93592072-93592111	Kidney_OC	kidney:	n/a	n/a
14	EBF1	chr6:93574627-93574845	GM12878	blood:	n/a	chr6:93574765-93574776
15	ELF1	chr6:93574845-93575227	MCF-7	breast:	n/a	n/a
16	ELF1	chr6:93574750-93575368	MCF-7	breast:	n/a	n/a
17	EP300	chr6:93602212-93602615	MCF-7	breast:	n/a	chr6:93602545-93602553
18	EP300	chr6:93609799-93610437	MCF-7	breast:	n/a	n/a
19	EP300	chr6:93607363-93607367	GM12878	blood:	n/a	n/a
20	ESR1	chr6:93610147-93610321	T-47D	breast:	n/a	chr6:93610245-93610262
21	FOS	chr6:93602387-93602711	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:93602381-93602678	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr6:93602396-93602669	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:93602386-93602700	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr6:93574908-93575175	T-47D	breast:	n/a	n/a
26	FOXA2	chr6:93579205-93579592	A549	lung:	n/a	n/a
27	FOXM1	chr6:93609918-93610513	MCF-7	breast:	n/a	n/a
28	GATA3	chr6:93574701-93575362	MCF-7	breast:	n/a	chr6:93575251-93575260
29	GATA3	chr6:93609964-93610388	MCF-7	breast:	n/a	n/a
30	GATA3	chr6:93602091-93602734	MCF-7	breast:	n/a	n/a
31	GATA3	chr6:93609824-93610742	MCF-7	breast:	n/a	n/a
32	GATA3	chr6:93609769-93610500	MCF-7	breast:	n/a	n/a
33	GATA3	chr6:93615098-93615260	MCF-7	breast:	n/a	n/a
34	GATA3	chr6:93614775-93615354	MCF-7	breast:	n/a	n/a
35	GATA3	chr6:93608313-93608581	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr6:93602208-93602650	MCF-7	breast:	n/a	n/a
37	GATA3	chr6:93610091-93610397	MCF-7	breast:	n/a	n/a
38	HDAC2	chr6:93609971-93610403	MCF-7	breast:	n/a	n/a
39	JUN	chr6:93587185-93587366	K562	blood:	n/a	n/a
40	KAP1	chr6:93574379-93574474	U2OS	brain:	n/a	n/a
41	KAP1	chr6:93599512-93599851	HEK293	kidney:	n/a	n/a
42	MYC	chr6:93610214-93610297	MCF-7	breast:	n/a	n/a
43	NFYB	chr6:93576501-93576692	GM12878	blood:	n/a	n/a
44	NR2F2	chr6:93609816-93610490	MCF-7	breast:	n/a	n/a
45	NR2F2	chr6:93609853-93610475	MCF-7	breast:	n/a	n/a
46	POLR2A	chr6:93577468-93577593	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:93577753-93577785	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:93603655-93603787	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr6:93609013-93609119	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:93613198-93613291	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
2	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
3	chr6:93546886..93549029-chr6:93572049..93573948,2	MCF-7	breast:
4	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
5	chr6:93596729..93599240-chr6:93599473..93601242,2	MCF-7	breast:
6	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
7	chr1:149214863..149216422-chr6:93606978..93608496,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHA7-5	chr6:93597512-93598299	NONHSAT114016
2	lnc-EPHA7-5	chr6:93596969-93597107	NONHSAT114016

No data

Variant related genes	Relation type
ATF1P1	TF binding region
ENSG00000219387	chromatin interactions
ENSG00000252826	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368092241	chr6:93589209-93589210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546306545	chr6:93589211-93589212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566094188	chr6:93589261-93589262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535087166	chr6:93589284-93589285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145091716	chr6:93589309-93589310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547240058	chr6:93589319-93589320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75628484	chr6:93589341-93589342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76173091	chr6:93589411-93589412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs578226388	chr6:93589417-93589418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9452152	chr6:93589458-93589459	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570680330	chr6:93589469-93589470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9360001	chr6:93589500-93589501	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574079367	chr6:93589504-93589505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563777222	chr6:93589516-93589517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543048847	chr6:93589584-93589585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34625918	chr6:93589587-93589588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2506951	chr6:93589596-93589597	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575523952	chr6:93589604-93589605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544202185	chr6:93589629-93589630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185724513	chr6:93589639-93589640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190580087	chr6:93589671-93589672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376632020	chr6:93589693-93589694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546245135	chr6:93589709-93589710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141159070	chr6:93589711-93589712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558652556	chr6:93589720-93589721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12530450	chr6:93589729-93589730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13206384	chr6:93589751-93589752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146726949	chr6:93589821-93589822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568779821	chr6:93589847-93589848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547702394	chr6:93589856-93589857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141283944	chr6:93589941-93589942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564213902	chr6:93590071-93590072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571822541	chr6:93590076-93590077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534441414	chr6:93590078-93590079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9353958	chr6:93590092-93590093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181634184	chr6:93590117-93590118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148333964	chr6:93590126-93590127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141375428	chr6:93590137-93590138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13217671	chr6:93590180-93590181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556494668	chr6:93590216-93590217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185954421	chr6:93590221-93590222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544456225	chr6:93590228-93590229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575024747	chr6:93590238-93590239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188806539	chr6:93590251-93590252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577415671	chr6:93590257-93590258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540068544	chr6:93590272-93590273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535150734	chr6:93590290-93590291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34947119	chr6:93590301-93590302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559792599	chr6:93590320-93590321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181233330	chr6:93590321-93590322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93589200-93589600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:93589600-93600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:93600000-93601000	ZNF genes & repeats	Lung	lung
4	chr6:93600200-93600600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:93600200-93601000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:93602200-93603600	Enhancers	Fetal Brain Male	brain
7	chr6:93602200-93603800	Enhancers	Fetal Brain Female	brain
8	chr6:93603600-93604600	Weak transcription	Fetal Brain Male	brain
9	chr6:93605200-93605400	Enhancers	Fetal Brain Male	brain
10	chr6:93605200-93605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:93605200-93605800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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