Variant report

Variant	nsv339602
Chromosome Location	chr6:34204540-34204542
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	ATF2	chr6:34203276-34204643	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr6:34203931-34205103	GM12878	blood:	n/a	n/a
3	ATF2	chr6:34203212-34204748	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:34204275-34204601	GM12878	blood:	n/a	n/a
5	ATF3	chr6:34204228-34204739	K562	blood:	n/a	chr6:34204588-34204597
6	BACH1	chr6:34203470-34204683	K562	blood:	n/a	chr6:34203549-34203563
7	BACH1	chr6:34202422-34204707	H1-hESC	embryonic stem cell:	n/a	chr6:34203549-34203563
8	BATF	chr6:34204281-34204556	GM12878	blood:	n/a	n/a
9	BCL11A	chr6:34204248-34204585	GM12878	blood:	n/a	n/a
10	BCL3	chr6:34204235-34205090	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34204935-34204944 chr6:34204934-34204947
11	BCLAF1	chr6:34203209-34205104	K562	blood:	n/a	chr6:34204938-34204947 chr6:34203272-34203281 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
12	BCLAF1	chr6:34203336-34205094	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
13	BCLAF1	chr6:34203716-34204767	GM12878	blood:	n/a	n/a
14	BHLHE40	chr6:34203088-34205165	GM12878	blood:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
15	BHLHE40	chr6:34203081-34204903	K562	blood:	n/a	chr6:34204607-34204623
16	BHLHE40	chr6:34204417-34204945	HepG2	liver:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
17	BRCA1	chr6:34204348-34204764	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr6:34202931-34204843	K562	blood:	n/a	n/a
19	CBX3	chr6:34204274-34204560	K562	blood:	n/a	n/a
20	CCNT2	chr6:34202690-34206370	K562	blood:	n/a	chr6:34202983-34202992 chr6:34204588-34204597 chr6:34203018-34203027 chr6:34203362-34203371 chr6:34205365-34205374 chr6:34205687-34205696 chr6:34203060-34203069 chr6:34204858-34204867 chr6:34205495-34205504 chr6:34203273-34203282
21	CEBPB	chr6:34203371-34204547	K562	blood:	n/a	chr6:34203984-34203992
22	CEBPB	chr6:34204185-34204635	GM12878	blood:	n/a	n/a
23	CEBPD	chr6:34203221-34204925	K562	blood:	n/a	n/a
24	CEBPD	chr6:34204187-34204879	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:34203055-34205004	K562	blood:	n/a	n/a
26	CHD1	chr6:34203402-34205116	H1-hESC	embryonic stem cell:	n/a	chr6:34203477-34203487
27	CHD1	chr6:34203488-34205101	GM12878	blood:	n/a	n/a
28	CHD1	chr6:34203247-34207472	IMR90	lung:	n/a	chr6:34205496-34205506 chr6:34205433-34205443 chr6:34203477-34203487 chr6:34205352-34205359
29	CHD2	chr6:34202641-34204774	H1-hESC	embryonic stem cell:	n/a	chr6:34203149-34203159 chr6:34203477-34203487
30	CHD2	chr6:34203056-34205090	GM12878	blood:	n/a	chr6:34203149-34203159 chr6:34203477-34203487
31	CHD2	chr6:34202784-34204760	K562	blood:	n/a	chr6:34203149-34203159 chr6:34203477-34203487
32	CHD2	chr6:34202993-34205597	Hela-S3	cervix:	n/a	chr6:34205496-34205506 chr6:34203149-34203159 chr6:34205433-34205443 chr6:34203477-34203487 chr6:34205352-34205359
33	CREB1	chr6:34204282-34204927	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr6:34204210-34205159	HepG2	liver:	n/a	n/a
35	CREB1	chr6:34204245-34204917	HepG2	liver:	n/a	n/a
36	CREB1	chr6:34203329-34204990	K562	blood:	n/a	n/a
37	CREB1	chr6:34204277-34204753	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr6:34203835-34205107	GM12878	blood:	n/a	n/a
39	CREB1	chr6:34204464-34204704	A549	lung:	n/a	n/a
40	CREB1	chr6:34203307-34204886	K562	blood:	n/a	n/a
41	CREB1	chr6:34204366-34204872	A549	lung:	n/a	n/a
42	CREB1	chr6:34204407-34204771	ECC-1	luminal epithelium:	n/a	n/a
43	CTBP2	chr6:34203169-34204719	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr6:34203556-34204681	K562	blood:	n/a	chr6:34203668-34203681
45	E2F4	chr6:34203479-34204893	MCF10A-Er-Src	breast:	n/a	chr6:34203681-34203690 chr6:34204588-34204597 chr6:34203983-34203992
46	E2F4	chr6:34202945-34205548	K562	blood:	n/a	chr6:34203351-34203360 chr6:34203043-34203052 chr6:34203681-34203690 chr6:34204588-34204597 chr6:34205352-34205359 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34205371-34205380 chr6:34203429-34203438 chr6:34203256-34203268 chr6:34204935-34204945 chr6:34205193-34205202 chr6:34205350-34205364 chr6:34203983-34203992
47	E2F6	chr6:34202805-34204679	K562	blood:	n/a	chr6:34203351-34203360 chr6:34203043-34203052 chr6:34203681-34203690 chr6:34204588-34204597 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34203429-34203438 chr6:34203255-34203266 chr6:34203256-34203268 chr6:34202873-34202885 chr6:34203983-34203992
48	E2F6	chr6:34204341-34204680	K562	blood:	n/a	chr6:34204588-34204597
49	E2F6	chr6:34202945-34205505	K562	blood:	n/a	chr6:34203351-34203360 chr6:34203043-34203052 chr6:34203681-34203690 chr6:34204588-34204597 chr6:34205352-34205359 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34205371-34205380 chr6:34203429-34203438 chr6:34203255-34203266 chr6:34203256-34203268 chr6:34204935-34204945 chr6:34205193-34205202 chr6:34205350-34205364 chr6:34203983-34203992
50	EBF1	chr6:34203866-34205099	GM12878	blood:	n/a	chr6:34203960-34203970 chr6:34203961-34203970

No.	Distal block	Cell Line	Cell type
1	chr15:78730134..78730654-chr6:34204413..34205121,2	Hela-S3	cervix:
2	chr6:32937897..32939542-chr6:34204390..34205971,2	K562	blood:
3	chr11:33061352..33062092-chr6:34204110..34205009,2	Hela-S3	cervix:
4	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
5	chr6:26030302..26034233-chr6:34203696..34206879,3	K562	blood:
6	chr1:249120210..249121150-chr6:34204127..34204729,2	Hela-S3	cervix:
7	chr6:32939896..32942243-chr6:34202585..34204574,3	K562	blood:
8	chr6:34204127..34204964-chr9:131790137..131790828,2	Hela-S3	cervix:
9	chr6:34203144..34206658-chr6:34358641..34361602,5	MCF-7	breast:
10	chr1:145611150..145611650-chr6:34204399..34204900,2	Hela-S3	cervix:
11	chr6:34204142..34204871-chr8:145734847..145735360,2	HCT-116	colon:
12	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
13	chr6:34202852..34208935-chr6:34358420..34361531,11	K562	blood:
14	chr6:34201904..34204640-chr6:34398022..34401494,3	K562	blood:
15	chr15:79164841..79165710-chr6:34204367..34204927,2	HCT-116	colon:
16	chr22:42371294..42372795-chr6:34203726..34205755,2	K562	blood:
17	chr6:34204158..34206160-chr6:34249084..34250799,2	K562	blood:
18	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
19	chr6:34202422..34206409-chr6:34359682..34362061,4	MCF-7	breast:
20	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
21	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
22	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:
23	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
24	chr6:27114807..27116319-chr6:34202953..34205471,2	K562	blood:
25	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:
26	chr6:34201904..34204640-chr6:34398634..34402211,3	K562	blood:
27	chr6:32935087..32937260-chr6:34203527..34205699,2	K562	blood:
28	chr3:156392161..156392699-chr6:34204120..34204941,2	Hela-S3	cervix:
29	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
30	chr6:34202426..34206348-chr6:34246132..34251181,8	K562	blood:
31	chr6:34203584..34206226-chr6:34392090..34394590,2	K562	blood:
32	chr11:62609122..62609720-chr6:34204185..34204725,2	Hela-S3	cervix:

Variant related genes	Relation type
HMGA1	TF binding region
ENSG00000270800	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000185787	chromatin interactions
ENSG00000100167	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000163659	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000243926	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000264500	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000112514	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000225339	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000272325	chromatin interactions
ENSG00000136381	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67806320	chr6:34204541-34204542	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34202400-34207000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:34202400-34207400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:34202400-34207400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:34202600-34206000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:34202600-34206000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:34202600-34206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:34202600-34206200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:34202600-34206800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:34202800-34206000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:34202800-34206000	Active TSS	Thymus	Thymus
11	chr6:34202800-34206200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:34202800-34206400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:34202800-34206800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:34202800-34206800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34202800-34206800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:34203000-34204600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:34203000-34205400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:34203200-34205400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:34203200-34206200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:34203200-34206400	Active TSS	Small Intestine	intestine
21	chr6:34203400-34204600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:34203400-34204600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:34203400-34204600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:34203400-34204600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr6:34203400-34204600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr6:34203400-34204600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:34203400-34204600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:34203400-34204600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:34203400-34204600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:34203400-34204600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:34203400-34204600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:34203400-34204600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:34203400-34204600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr6:34203400-34204600	Enhancers	Fetal Heart	heart
35	chr6:34203400-34204600	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr6:34203400-34204600	Flanking Active TSS	Right Ventricle	heart
37	chr6:34203400-34204600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr6:34203400-34204600	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:34203400-34204600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr6:34203400-34204600	Flanking Active TSS	NH-A	brain
41	chr6:34203400-34204800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:34203400-34205600	Active TSS	Brain Germinal Matrix	brain
43	chr6:34203400-34206200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:34203400-34206400	Active TSS	Fetal Kidney	kidney
45	chr6:34203400-34206600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:34203400-34206800	Active TSS	Esophagus	oesophagus
47	chr6:34203600-34204600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:34203600-34204600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr6:34203600-34204600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr6:34203600-34204600	Flanking Active TSS	Placenta	Placenta

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