Variant report

Variant	nsv969324
Chromosome Location	chr6:121703134-121711366
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	BACH1	chr6:121704737-121704984	K562	blood:	n/a	n/a
2	BACH1	chr6:121704676-121704749	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:121705376-121705383	K562	blood:	n/a	n/a
4	CTCF	chr6:121710700-121710850	HepG2	liver:	n/a	n/a
5	CTCF	chr6:121710640-121710790	GM12869	blood:	n/a	n/a
6	CTCF	chr6:121710760-121710910	HEK293	kidney:	n/a	n/a
7	E2F4	chr6:121704604-121704783	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:121703953-121704174	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr6:121709869-121710028	MCF10A-Er-Src	breast:	n/a	chr6:121709912-121709920 chr6:121709911-121709921 chr6:121709911-121709921 chr6:121709911-121709921
10	FOS	chr6:121709871-121709974	MCF10A-Er-Src	breast:	n/a	chr6:121709912-121709920 chr6:121709911-121709921 chr6:121709911-121709921 chr6:121709911-121709921
11	FOXA2	chr6:121709731-121710061	A549	lung:	n/a	n/a
12	GATA2	chr6:121703752-121704284	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr6:121704118-121704312	SH-SY5Y	brain:	n/a	n/a
14	KAP1	chr6:121703604-121704103	HEK293	kidney:	n/a	n/a
15	MAFF	chr6:121704676-121704960	HepG2	liver:	n/a	chr6:121704816-121704834
16	MAFF	chr6:121704639-121704977	K562	blood:	n/a	chr6:121704816-121704834
17	MAFK	chr6:121704660-121705001	IMR90	lung:	n/a	chr6:121704817-121704832
18	MAFK	chr6:121704738-121704981	HepG2	liver:	n/a	chr6:121704817-121704832
19	MAFK	chr6:121704654-121704985	K562	blood:	n/a	chr6:121704817-121704832
20	MAFK	chr6:121704655-121704991	HepG2	liver:	n/a	chr6:121704817-121704832
21	MAFK	chr6:121704643-121704960	H1-hESC	embryonic stem cell:	n/a	chr6:121704817-121704832
22	NFYB	chr6:121704459-121704659	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:121706890-121707093	GM12878	blood:	n/a	n/a
24	USF2	chr6:121709883-121709992	Hela-S3	cervix:	n/a	chr6:121709931-121709942

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA1-1	chr6:121711036-121711127	ENSG00000234024

Variant related genes	Relation type
ENSG00000207403	TF binding region
ENSG00000272714	TF binding region

Extended variants
information (count: 313 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542883016	chr6:121703138-121703139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139859340	chr6:121703253-121703254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542636596	chr6:121703260-121703261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112443193	chr6:121703274-121703275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200531507	chr6:121703278-121703279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561298840	chr6:121703290-121703291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146695733	chr6:121703308-121703309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564673602	chr6:121703331-121703332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9482155	chr6:121703340-121703341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181306000	chr6:121703358-121703359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139663098	chr6:121703376-121703377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533150417	chr6:121703395-121703396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560546129	chr6:121703397-121703398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529352455	chr6:121703425-121703426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9490223	chr6:121703460-121703461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs62427579	chr6:121703476-121703477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9482156	chr6:121703477-121703478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9490224	chr6:121703484-121703485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117915148	chr6:121703488-121703489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185127319	chr6:121703505-121703506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35882044	chr6:121703506-121703507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548820733	chr6:121703511-121703512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554142754	chr6:121703535-121703536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112132189	chr6:121703536-121703537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572802086	chr6:121703548-121703549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71726163	chr6:121703549-121703550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60928324	chr6:121703551-121703552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566222700	chr6:121703579-121703580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79820114	chr6:121703651-121703652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372558942	chr6:121703696-121703697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs188279116	chr6:121703760-121703761	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575869577	chr6:121703774-121703775	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181048392	chr6:121703849-121703850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145398644	chr6:121703853-121703854	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs9490225	chr6:121703855-121703856	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs540824669	chr6:121703887-121703888	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187140947	chr6:121703936-121703937	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529364531	chr6:121703945-121703946	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149225866	chr6:121703975-121703976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192423027	chr6:121703980-121703981	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530726799	chr6:121703988-121703989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs117553565	chr6:121703992-121703993	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372747602	chr6:121704007-121704008	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115568243	chr6:121704066-121704067	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73530210	chr6:121704086-121704087	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566234782	chr6:121704094-121704095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535150704	chr6:121704128-121704129	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548719711	chr6:121704136-121704137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs151258860	chr6:121704153-121704154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs558474368	chr6:121704154-121704155	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121698800-121705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:121702600-121706000	Enhancers	Fetal Intestine Large	intestine
3	chr6:121702600-121706000	Enhancers	Fetal Intestine Small	intestine
4	chr6:121703000-121705600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:121703600-121703800	Enhancers	A549	lung
6	chr6:121703800-121704200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:121703800-121704800	Weak transcription	A549	lung
8	chr6:121703800-121705600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr6:121704000-121705600	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:121704400-121705000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:121704600-121705000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:121704600-121705000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:121704800-121705200	Enhancers	A549	lung
14	chr6:121705400-121705600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:121706000-121709600	Weak transcription	Fetal Intestine Large	intestine
16	chr6:121706000-121710000	Weak transcription	Fetal Intestine Small	intestine
17	chr6:121709600-121711000	Enhancers	Fetal Intestine Large	intestine
18	chr6:121710000-121710800	Enhancers	Fetal Intestine Small	intestine
19	chr6:121710800-121713200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:121711000-121713400	Weak transcription	Fetal Intestine Large	intestine

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