Variant report

Variant	esv3473943
Chromosome Location	chr6:33292784-33295486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:33294307-33294445	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:33294245-33294465	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:33294271-33294480	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr6:33294314-33294353	HepG2	liver:	n/a	n/a
5	JUND	chr6:33294250-33294465	HepG2	liver:	n/a	chr6:33294329-33294340
6	NRF1	chr6:33293907-33293921	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33294842-33294892	AG10803	skin:	n/a
2	chr6:33294842-33294892	HEEpiC	esophagus:	n/a
3	chr6:33294842-33294892	U87	brain:	n/a
4	chr6:33294842-33294892	HAEpiC	amniotic membrane:	n/a
5	chr6:33294842-33294892	SK-N-SH_RA	brain:	n/a
6	chr6:33294842-33294892	Hela-S3	cervix:	n/a
7	chr6:33294842-33294892	HUVEC	blood vessel:	n/a
8	chr6:33294842-33294892	NT2-D1	testis:	n/a
9	chr6:33294842-33294892	PFSK-1	brain:	n/a
10	chr6:33294842-33294892	GM12892	blood:	n/a
11	chr6:33294842-33294892	CMK	blood:	n/a
12	chr6:33294842-33294892	BE2_C	brain:	n/a
13	chr6:33294842-33294892	GM12891	blood:	n/a
14	chr6:33294842-33294892	HRPEpiC	eye:	n/a
15	chr6:33294842-33294892	PrEC	prostate:	n/a
16	chr6:33294842-33294892	PANC-1	pancreas:	n/a
17	chr6:33294842-33294892	NB4	blood:	n/a
18	chr6:33294842-33294892	NH-A	brain:	n/a
19	chr6:33294842-33294892	GM19239	blood:	n/a
20	chr6:33294842-33294892	IMR90	lung:	fetal
21	chr6:33294842-33294892	T-47D	breast:	n/a
22	chr6:33294842-33294892	HRE	kidney:	n/a
23	chr6:33294842-33294892	Hepatocyte	liver:	n/a
24	chr6:33294842-33294892	SKMC	muscle:	n/a
25	chr6:33294842-33294892	MCF10A-Er-Src	breast:	n/a
26	chr6:33294842-33294892	GM12878	blood:	n/a
27	chr6:33294842-33294892	HIPEpiC	eye:	n/a
28	chr6:33294842-33294892	K562	blood:	n/a
29	chr6:33294842-33294892	HL-60	blood:	n/a
30	chr6:33294842-33294892	HNPCEpiC	eye:	n/a
31	chr6:33294842-33294892	RPTEC	kidney:	n/a
32	chr6:33294842-33294892	AG04450	lung:	fetal
33	chr6:33294842-33294892	HCM	heart:	n/a
34	chr6:33294842-33294892	NHDF-neo	bronchial:	n/a
35	chr6:33294842-33294892	HMEC	breast:	n/a
36	chr6:33294842-33294892	HRCEpiC	kidney:	n/a
37	chr6:33294842-33294892	AG09319	gingival:	n/a
38	chr6:33294842-33294892	LNCaP	prostate:	n/a
39	chr6:33294842-33294892	AoSMC	blood vessel:	n/a
40	chr6:33294842-33294892	GM06990	blood:	n/a
41	chr6:33294842-33294892	ovcar-3	ovarian:	n/a
42	chr6:33294842-33294892	HEK293	kidney:	embryo
43	chr6:33294842-33294892	AG09309	skin:	n/a
44	chr6:33294842-33294892	A549	lung:	n/a
45	chr6:33294842-33294892	HepG2	liver:	n/a
46	chr6:33294842-33294892	MCF-7	breast:	n/a
47	chr6:33294842-33294892	Jurkat	blood:	n/a
48	chr6:33294842-33294892	NHBE	bronchial:	n/a
49	chr6:33294842-33294892	ProgFib	skin:	n/a
50	chr6:33294842-33294892	ECC-1	luminal epithelium:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33291002..33293744-chr6:33298689..33300454,2	K562	blood:
3	chr6:33238587..33240368-chr6:33290664..33293261,2	MCF-7	breast:

No data

Variant related genes	Relation type
DAXX	TF binding region
DAXX	CpG island
ENSG00000112514	chromatin interactions
ENSG00000112511	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000197283	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28892581	chr6:33292847-33292848	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558536887	chr6:33292851-33292852	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs3130101	chr6:33292888-33292889	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140813438	chr6:33292896-33292897	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs150144393	chr6:33292909-33292910	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs182072115	chr6:33292914-33292915	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs185430026	chr6:33292915-33292916	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs3130102	chr6:33292934-33292935	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190682745	chr6:33292939-33292940	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs574782880	chr6:33293019-33293020	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs113049645	chr6:33293083-33293084	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs574027798	chr6:33293112-33293113	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370539649	chr6:33293142-33293143	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557249714	chr6:33293174-33293175	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575725892	chr6:33293221-33293222	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545943859	chr6:33293230-33293231	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564528177	chr6:33293311-33293312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180836342	chr6:33293431-33293432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371094123	chr6:33293434-33293435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9348912	chr6:33293461-33293462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374313140	chr6:33293464-33293465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538236081	chr6:33293505-33293506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377054309	chr6:33293532-33293533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185218691	chr6:33293569-33293570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374626753	chr6:33293589-33293590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545823068	chr6:33293750-33293751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548395780	chr6:33293768-33293769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569737780	chr6:33293985-33293986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530649167	chr6:33293989-33293990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551936291	chr6:33294004-33294005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568310233	chr6:33294031-33294032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9277979	chr6:33294098-33294099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35672436	chr6:33294122-33294123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200562221	chr6:33294135-33294136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552546199	chr6:33294146-33294147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190037144	chr6:33294157-33294158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535757671	chr6:33294162-33294163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557547018	chr6:33294181-33294182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575722974	chr6:33294186-33294187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539926203	chr6:33294243-33294244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370313225	chr6:33294295-33294296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532434861	chr6:33294358-33294359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs143038859	chr6:33294365-33294366	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs540680008	chr6:33294368-33294369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534149291	chr6:33294373-33294374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs181276560	chr6:33294413-33294414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541728079	chr6:33294431-33294432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553898256	chr6:33294491-33294492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563499856	chr6:33294552-33294553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530577649	chr6:33294558-33294559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33292000-33292800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr6:33292000-33293200	Weak transcription	Placenta	Placenta
4	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:33292000-33296800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:33292200-33292800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:33292200-33292800	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:33292400-33292800	Enhancers	GM12878-XiMat	blood
10	chr6:33292400-33294000	Enhancers	Primary B cells from cord blood	blood
11	chr6:33292600-33292800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:33292600-33293800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:33292600-33294200	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:33292800-33298200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:33292800-33300200	Weak transcription	GM12878-XiMat	blood
16	chr6:33292800-33301800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:33293200-33293400	Enhancers	Placenta	Placenta
18	chr6:33294000-33297000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:33294200-33295400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:33295400-33295800	Enhancers	Primary B cells from peripheral blood	blood

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