Variant report

Variant	esv3393784
Chromosome Location	chr6:150689259-150693557
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	ATF1	chr6:150690117-150690163	K562	blood:	n/a	n/a
2	BCL3	chr6:150691143-150691743	GM12878	blood:	n/a	n/a
3	BCL3	chr6:150691107-150691689	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:150689894-150690301	HepG2	liver:	n/a	n/a
5	CREB1	chr6:150689950-150690430	HepG2	liver:	n/a	chr6:150690146-150690159
6	CREB1	chr6:150689878-150690440	HepG2	liver:	n/a	chr6:150690146-150690159
7	CTCF	chr6:150691442-150691565	GM19239	blood:	n/a	n/a
8	ELF1	chr6:150689944-150690216	HepG2	liver:	n/a	n/a
9	EP300	chr6:150689799-150690236	HepG2	liver:	n/a	n/a
10	EP300	chr6:150690032-150690087	HepG2	liver:	n/a	n/a
11	FOXA1	chr6:150690004-150690214	T-47D	breast:	n/a	n/a
12	FOXA1	chr6:150690003-150690254	T-47D	breast:	n/a	n/a
13	HNF4A	chr6:150689783-150690224	HepG2	liver:	n/a	chr6:150689991-150690006 chr6:150689990-150690008 chr6:150690035-150690050 chr6:150690035-150690050 chr6:150689993-150690005 chr6:150690036-150690050 chr6:150689992-150690005 chr6:150690037-150690049
14	HNF4A	chr6:150689804-150690213	HepG2	liver:	n/a	chr6:150689991-150690006 chr6:150689990-150690008 chr6:150690035-150690050 chr6:150690035-150690050 chr6:150689993-150690005 chr6:150690036-150690050 chr6:150689992-150690005 chr6:150690037-150690049
15	HNF4G	chr6:150689839-150690209	HepG2	liver:	n/a	chr6:150689990-150690008 chr6:150689992-150690007 chr6:150690035-150690050 chr6:150689993-150690005 chr6:150690036-150690050 chr6:150689992-150690005 chr6:150690036-150690051 chr6:150690037-150690049
16	MAX	chr6:150689896-150690082	HepG2	liver:	n/a	n/a
17	MYC	chr6:150691466-150691515	MCF-7	breast:	n/a	n/a
18	NFATC1	chr6:150691121-150691732	GM12878	blood:	n/a	n/a
19	NFATC1	chr6:150691147-150691502	GM12878	blood:	n/a	n/a
20	NR3C1	chr6:150693458-150694038	A549	lung:	n/a	n/a
21	PBX3	chr6:150691194-150691664	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:150691359-150691566	A549	lung:	n/a	n/a
23	POLR2A	chr6:150691378-150691627	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:150689891-150689900	ProgFib	skin:	n/a	n/a
25	POLR2A	chr6:150691446-150691466	Gliobla	brain:	n/a	n/a
26	RFX5	chr6:150689995-150690215	HepG2	liver:	n/a	n/a
27	STAT5A	chr6:150691245-150691640	GM12878	blood:	n/a	n/a
28	SUZ12	chr6:150691322-150691621	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF3	chr6:150691237-150691593	GM12878	blood:	n/a	n/a
30	TCF3	chr6:150691275-150691684	GM12878	blood:	n/a	n/a
31	TEAD4	chr6:150689831-150690283	HepG2	liver:	n/a	n/a
32	USF1	chr6:150689877-150690107	HepG2	liver:	n/a	chr6:150689980-150689991
33	ZEB1	chr6:150689796-150690293	HepG2	liver:	n/a	n/a
34	ZEB1	chr6:150689747-150690353	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150689918-150689968	HCT-116	colon:	n/a
2	chr6:150690125-150690175	GM12891	blood:	n/a
3	chr6:150689918-150689968	SAEC	small airway:	n/a
4	chr6:150689918-150689968	BJ	skin:	n/a
5	chr6:150690143-150690193	AoSMC	blood vessel:	n/a
6	chr6:150689918-150689968	NH-A	brain:	n/a
7	chr6:150690143-150690193	GM19239	blood:	n/a
8	chr6:150690125-150690175	AG10803	skin:	n/a
9	chr6:150689918-150689968	K562	blood:	n/a
10	chr6:150690125-150690175	PrEC	prostate:	n/a
11	chr6:150689918-150689968	SKMC	muscle:	n/a
12	chr6:150689918-150689968	AG09309	skin:	n/a
13	chr6:150689918-150689968	SK-N-SH	brain:	n/a
14	chr6:150689918-150689968	ECC-1	luminal epithelium:	n/a
15	chr6:150690125-150690175	AG04449	skin:	fetal
16	chr6:150689918-150689968	NT2-D1	testis:	n/a
17	chr6:150690143-150690193	SK-N-SH_RA	brain:	n/a
18	chr6:150690143-150690193	AG04449	skin:	fetal
19	chr6:150690143-150690193	AG04450	lung:	fetal
20	chr6:150690125-150690175	BE2_C	brain:	n/a
21	chr6:150690143-150690193	HRE	kidney:	n/a
22	chr6:150689918-150689968	HRCEpiC	kidney:	n/a
23	chr6:150690125-150690175	HEEpiC	esophagus:	n/a
24	chr6:150690143-150690193	Caco-2	colon:	n/a
25	chr6:150689918-150689968	NHDF-neo	bronchial:	n/a
26	chr6:150690125-150690175	GM19239	blood:	n/a
27	chr6:150690125-150690175	U87	brain:	n/a
28	chr6:150689918-150689968	Jurkat	blood:	n/a
29	chr6:150690143-150690193	Hepatocyte	liver:	n/a
30	chr6:150690143-150690193	PFSK-1	brain:	n/a
31	chr6:150690143-150690193	PANC-1	pancreas:	n/a
32	chr6:150689918-150689968	HUVEC	blood vessel:	n/a
33	chr6:150690125-150690175	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:150690143-150690193	SKMC	muscle:	n/a
35	chr6:150690143-150690193	AG10803	skin:	n/a
36	chr6:150690143-150690193	HepG2	liver:	n/a
37	chr6:150690143-150690193	HEEpiC	esophagus:	n/a
38	chr6:150690143-150690193	HNPCEpiC	eye:	n/a
39	chr6:150690143-150690193	BE2_C	brain:	n/a
40	chr6:150690143-150690193	ovcar-3	ovarian:	n/a
41	chr6:150690143-150690193	NB4	blood:	n/a
42	chr6:150690125-150690175	IMR90	lung:	fetal
43	chr6:150690125-150690175	HCM	heart:	n/a
44	chr6:150690143-150690193	HUVEC	blood vessel:	n/a
45	chr6:150689918-150689968	Hepatocyte	liver:	n/a
46	chr6:150689918-150689968	Hela-S3	cervix:	n/a
47	chr6:150690125-150690175	NH-A	brain:	n/a
48	chr6:150690143-150690193	GM12891	blood:	n/a
49	chr6:150689918-150689968	HIPEpiC	eye:	n/a
50	chr6:150689918-150689968	MCF-7	breast:	n/a

Variant related genes	Relation type
IYD	TF binding region
IYD	CpG island

Extended variants
information (count: 175 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs150166449	chr6:150689305-150689306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562495982	chr6:150689433-150689434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145668170	chr6:150689469-150689470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561450386	chr6:150689487-150689488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545361932	chr6:150689493-150689494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565130749	chr6:150689546-150689547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368043865	chr6:150689571-150689572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530591982	chr6:150689633-150689634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148925063	chr6:150689654-150689655	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572258385	chr6:150689682-150689683	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564159351	chr6:150689694-150689695	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192001932	chr6:150689695-150689696	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567440224	chr6:150689707-150689708	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74801400	chr6:150689782-150689783	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549456328	chr6:150689817-150689818	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568953347	chr6:150689834-150689835	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111510674	chr6:150689927-150689928	Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs143667751	chr6:150689968-150689969	Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs558030060	chr6:150690008-150690009	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185774619	chr6:150690038-150690039	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534768108	chr6:150690040-150690041	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534417519	chr6:150690060-150690061	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377276436	chr6:150690074-150690075	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370916801	chr6:150690088-150690089	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs375930689	chr6:150690126-150690127	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs368894640	chr6:150690143-150690144	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs374342127	chr6:150690147-150690148	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs377735219	chr6:150690152-150690153	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs370833097	chr6:150690156-150690157	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs139564050	chr6:150690217-150690218	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529565369	chr6:150690226-150690227	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138283020	chr6:150690236-150690237	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542404963	chr6:150690237-150690238	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373765215	chr6:150690256-150690257	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146748197	chr6:150690257-150690258	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576111517	chr6:150690264-150690265	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544994595	chr6:150690265-150690266	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376472194	chr6:150690282-150690283	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370872496	chr6:150690289-150690290	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199986199	chr6:150690292-150690293	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373631895	chr6:150690296-150690297	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371640386	chr6:150690381-150690382	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188651474	chr6:150690382-150690383	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529891552	chr6:150690416-150690417	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142862233	chr6:150690432-150690433	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371194462	chr6:150690502-150690503	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs568961574	chr6:150690503-150690504	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs140885704	chr6:150690517-150690518	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs59338764	chr6:150690600-150690601	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs111677529	chr6:150690606-150690607	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150688800-150690200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr6:150689200-150693200	Enhancers	Fetal Intestine Large	intestine
3	chr6:150689200-150693400	Enhancers	Fetal Intestine Small	intestine
4	chr6:150689400-150689800	Enhancers	Liver	Liver
5	chr6:150689400-150689800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr6:150689400-150690400	Enhancers	HepG2	liver
7	chr6:150689600-150690800	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:150689600-150691000	Enhancers	Stomach Mucosa	stomach
9	chr6:150689800-150691800	Flanking Active TSS	Liver	Liver
10	chr6:150690000-150690200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:150690000-150690400	Enhancers	Pancreas	Pancrea
12	chr6:150690000-150691600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:150690200-150690400	Enhancers	Fetal Kidney	kidney
14	chr6:150690200-150690400	Enhancers	Gastric	stomach
15	chr6:150690200-150690600	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:150690200-150690600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:150690200-150690800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr6:150690200-150691400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:150690200-150691600	Active TSS	Colonic Mucosa	Colon
20	chr6:150690400-150690600	Bivalent Enhancer	HepG2	liver
21	chr6:150690800-150691000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:150690800-150691400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:150691000-150691200	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:150691000-150691200	Enhancers	Lung	lung
25	chr6:150691000-150691600	Active TSS	Fetal Kidney	kidney
26	chr6:150691000-150698200	Weak transcription	Stomach Mucosa	stomach
27	chr6:150691200-150691400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:150691200-150691400	Active TSS	Gastric	stomach
29	chr6:150691200-150691600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:150691200-150691600	ZNF genes & repeats	Lung	lung
31	chr6:150691400-150691600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:150691400-150691600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:150691400-150691600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:150691400-150691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:150691400-150691600	Enhancers	Fetal Lung	lung
36	chr6:150691400-150691600	Flanking Active TSS	Gastric	stomach
37	chr6:150691400-150691600	Enhancers	Pancreas	Pancrea
38	chr6:150691600-150692200	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:150691600-150700200	Weak transcription	Lung	lung
40	chr6:150691800-150695000	Enhancers	Liver	Liver
41	chr6:150692200-150694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:150692200-150698200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:150692400-150695200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:150692600-150694000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:150692800-150693200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:150692800-150695000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:150692800-150695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:150692800-150695600	Enhancers	Osteobl	bone
49	chr6:150693000-150693400	Enhancers	NH-A	brain
50	chr6:150693000-150695400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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