Variant report

Variant	esv3424407
Chromosome Location	chr6:29952973-29956971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:29955057-29955145	GM19240	blood:	n/a	n/a
2	CTCF	chr6:29955100-29955250	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr6:29955100-29955250	NHLF	lung:	n/a	n/a
4	CTCF	chr6:29955053-29955103	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:29955055-29955143	ProgFib	skin:	n/a	n/a
6	CTCF	chr6:29954820-29954970	NHLF	lung:	n/a	n/a
7	CTCF	chr6:29954660-29954810	NHLF	lung:	n/a	n/a
8	CTCF	chr6:29955140-29955290	NHDF-neo	bronchial:	n/a	n/a
9	SMC3	chr6:29954969-29955199	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr6:29954079-29954279	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29950039..29951645-chr6:29953140..29954748,2	K562	blood:
2	chr6:29949567..29951883-chr6:29956360..29958897,2	K562	blood:
3	chr6:29955944..29957540-chr6:29961326..29963329,2	K562	blood:
4	chr6:29949567..29952384-chr6:29955471..29958344,3	K562	blood:
5	chr6:29943470..29945184-chr6:29952031..29954167,2	K562	blood:
6	chr6:29952453..29954719-chr6:29960794..29963085,2	K562	blood:
7	chr6:29943564..29948104-chr6:29950580..29953407,4	MCF-7	breast:
8	chr6:29956108..29958898-chr6:29958953..29961030,2	K562	blood:

No data

Variant related genes	Relation type
DDX39BP2	TF binding region
ENSG00000238024	chromatin interactions
ENSG00000204625	chromatin interactions
ENSG00000224312	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:311 , 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	rs535018125	chr6:29952986-29952987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111562645	chr6:29952995-29952996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs28559801	chr6:29953001-29953002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11755984	chr6:29953035-29953036	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147071875	chr6:29953059-29953060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537453658	chr6:29953080-29953081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11755961	chr6:29953099-29953100	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565497615	chr6:29953147-29953148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181169863	chr6:29953152-29953153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369997448	chr6:29953185-29953186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373390031	chr6:29953226-29953227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553163538	chr6:29953237-29953238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11755992	chr6:29953270-29953271	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs62388727	chr6:29953274-29953275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11751331	chr6:29953311-29953312	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs377492786	chr6:29953363-29953364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11758493	chr6:29953428-29953429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs201390476	chr6:29953440-29953441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11756025	chr6:29953442-29953443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529825020	chr6:29953443-29953444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200697028	chr6:29953484-29953485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143943004	chr6:29953505-29953506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201198374	chr6:29953518-29953519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386698662	chr6:29953523-29953524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60839982	chr6:29953528-29953529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59812435	chr6:29953532-29953533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146777347	chr6:29953545-29953546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138937905	chr6:29953546-29953547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116227464	chr6:29953584-29953585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115490678	chr6:29953594-29953595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73725908	chr6:29953598-29953599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376143866	chr6:29953600-29953601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545355857	chr6:29953604-29953605	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386698663	chr6:29953626-29953627	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73725910	chr6:29953628-29953629	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185608723	chr6:29953713-29953714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs386698664	chr6:29953716-29953717	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73725912	chr6:29953718-29953719	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188409258	chr6:29953729-29953730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116746699	chr6:29953731-29953732	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73428151	chr6:29953734-29953735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114098293	chr6:29953735-29953736	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
43	rs115639092	chr6:29953760-29953761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114713370	chr6:29953761-29953762	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180832917	chr6:29953774-29953775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375996220	chr6:29953791-29953792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73428152	chr6:29953803-29953804	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143860896	chr6:29953862-29953863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574363642	chr6:29953871-29953872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374119473	chr6:29953890-29953891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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	19571809	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	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Pancreatic cancer	17952125	CNVD
Rett syndrome	21593744	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29945600-29966400	Weak transcription	Pancreas	Pancrea
2	chr6:29949400-29953400	Weak transcription	HepG2	liver
3	chr6:29950200-29953600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:29953400-29953800	Enhancers	HepG2	liver
5	chr6:29953600-29954400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:29954200-29954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:29956200-29956600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:29956400-29957200	Enhancers	HMEC	breast
9	chr6:29956800-29957000	Enhancers	HSMM	muscle
10	chr6:29956800-29957000	Enhancers	NHEK	skin
11	chr6:29956800-29957200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:29956800-29957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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