Variant report

Variant	nsv525925
Chromosome Location	chr6:118813320-118819212
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	CBX3	chr6:118816720-118817275	HCT-116	colon:	n/a	n/a
2	CEBPB	chr6:118816816-118817405	HCT-116	colon:	n/a	n/a
3	CEBPB	chr6:118816703-118817336	HCT-116	colon:	n/a	n/a
4	CEBPB	chr6:118816801-118817338	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:118816873-118817089	HepG2	liver:	n/a	n/a
6	E2F4	chr6:118818696-118818859	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr6:118816698-118817274	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr6:118816718-118817279	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr6:118816883-118817188	MCF10A-Er-Src	breast:	n/a	chr6:118817005-118817016
10	FOS	chr6:118816844-118817154	MCF10A-Er-Src	breast:	n/a	chr6:118817005-118817016
11	FOS	chr6:118816815-118817270	HUVEC	blood vessel:	n/a	chr6:118817005-118817016
12	FOS	chr6:118816859-118817180	MCF10A-Er-Src	breast:	n/a	chr6:118817005-118817016
13	FOS	chr6:118816883-118817171	MCF10A-Er-Src	breast:	n/a	chr6:118817005-118817016
14	FOSL1	chr6:118816782-118817304	HCT-116	colon:	n/a	n/a
15	FOSL1	chr6:118816786-118817370	HCT-116	colon:	n/a	n/a
16	JUN	chr6:118816064-118816184	K562	blood:	n/a	n/a
17	JUN	chr6:118816929-118817159	HepG2	liver:	n/a	n/a
18	JUND	chr6:118816856-118817172	HepG2	liver:	n/a	chr6:118817005-118817016
19	JUND	chr6:118816777-118817328	HCT-116	colon:	n/a	chr6:118817005-118817016
20	JUND	chr6:118816638-118817359	HCT-116	colon:	n/a	chr6:118817005-118817016
21	MAX	chr6:118816685-118817202	HCT-116	colon:	n/a	n/a
22	POLR2A	chr6:118815639-118815723	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:118816731-118817104	HCT-116	colon:	n/a	n/a
24	SP1	chr6:118816619-118817402	HCT-116	colon:	n/a	n/a
25	SP1	chr6:118816634-118817356	HCT-116	colon:	n/a	n/a
26	STAT3	chr6:118813770-118813833	MCF10A-Er-Src	breast:	n/a	n/a
27	ZNF143	chr6:118815862-118815901	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118807029..118809570-chr6:118811844..118815669,3	K562	blood:
2	chr6:118807810..118810020-chr6:118811825..118813344,2	K562	blood:

Variant related genes	Relation type
BRD7P3	TF binding region

Extended variants
information (count: 216 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4307206	chr6:118813320-118813321	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145456908	chr6:118813379-118813380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574239541	chr6:118813445-118813446	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543330525	chr6:118813477-118813478	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368428350	chr6:118813511-118813512	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575912964	chr6:118813620-118813621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186734117	chr6:118813626-118813627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564932441	chr6:118813698-118813699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572352000	chr6:118813768-118813769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541474418	chr6:118813782-118813783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561241009	chr6:118813828-118813829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530286313	chr6:118813835-118813836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552777739	chr6:118813836-118813837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563907065	chr6:118813879-118813880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534411638	chr6:118813899-118813900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137983951	chr6:118813940-118813941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556874033	chr6:118813950-118813951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561636665	chr6:118813964-118813965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189516961	chr6:118814076-118814077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75043487	chr6:118814105-118814106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73524133	chr6:118814120-118814121	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145041576	chr6:118814166-118814167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376470563	chr6:118814186-118814187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535973230	chr6:118814194-118814195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555928137	chr6:118814212-118814213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76927647	chr6:118814250-118814251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538497864	chr6:118814266-118814267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372987482	chr6:118814280-118814281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558585241	chr6:118814289-118814290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572370233	chr6:118814311-118814312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182081273	chr6:118814352-118814353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138738476	chr6:118814370-118814371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369730963	chr6:118814393-118814394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116746210	chr6:118814402-118814403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543975369	chr6:118814407-118814408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563870263	chr6:118814420-118814421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114000165	chr6:118814479-118814480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546480931	chr6:118814570-118814571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114437645	chr6:118814582-118814583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186632944	chr6:118814616-118814617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370624009	chr6:118814731-118814732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547059684	chr6:118814744-118814745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12213660	chr6:118814747-118814748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529735588	chr6:118814765-118814766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549467037	chr6:118814840-118814841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190938035	chr6:118814881-118814882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569349879	chr6:118814915-118814916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73766519	chr6:118814973-118814974	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565814483	chr6:118815006-118815007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534952214	chr6:118815022-118815023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Cancer	20164920	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
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118784600-118827600	Weak transcription	Esophagus	oesophagus
2	chr6:118785000-118813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:118785000-118816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:118790400-118816800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:118791000-118816400	Weak transcription	Pancreas	Pancrea
6	chr6:118791000-118816800	Weak transcription	HUVEC	blood vessel
7	chr6:118791000-118846000	Weak transcription	Gastric	stomach
8	chr6:118797800-118817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:118800600-118816200	Weak transcription	HMEC	breast
10	chr6:118807400-118842600	Weak transcription	NHLF	lung
11	chr6:118808200-118814200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:118809000-118816200	Weak transcription	Fetal Kidney	kidney
13	chr6:118809200-118815400	Weak transcription	Aorta	Aorta
14	chr6:118809200-118816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:118809200-118822200	Weak transcription	Right Ventricle	heart
16	chr6:118809200-118822400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:118809200-118825200	Weak transcription	Lung	lung
18	chr6:118809400-118814000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:118810000-118845800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:118810200-118815800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr6:118810200-118816800	Weak transcription	Brain Anterior Caudate	brain
22	chr6:118810200-118817400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:118810200-118821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:118810400-118814600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:118810400-118815400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:118810400-118819000	Strong transcription	Fetal Thymus	thymus
27	chr6:118810400-118821200	Weak transcription	Fetal Stomach	stomach
28	chr6:118810800-118814200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:118810800-118814200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:118810800-118814600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:118810800-118816400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:118810800-118816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:118810800-118817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:118810800-118825200	Weak transcription	HSMMtube	muscle
35	chr6:118810800-118825400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:118810800-118827400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:118810800-118827400	Weak transcription	Small Intestine	intestine
38	chr6:118810800-118827600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:118810800-118827800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:118811000-118817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:118811000-118821800	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:118811000-118828000	Weak transcription	Spleen	Spleen
43	chr6:118811200-118813400	Strong transcription	Osteobl	bone
44	chr6:118811200-118814600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:118811200-118816200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:118811200-118821600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:118811400-118813800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:118811400-118821200	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:118811400-118821800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:118811400-118825800	Weak transcription	Ovary	ovary

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