Variant report

Variant	esv13513
Chromosome Location	chr6:71998410-71999070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:306)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:71998373-71998481	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr6:71998494-71998737	GM12878	blood:	n/a	n/a
3	CCNT2	chr6:71998354-71998725	K562	blood:	n/a	n/a
4	CEBPB	chr6:71997872-71998666	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr6:71998399-71998744	GM12878	blood:	n/a	n/a
6	CHD1	chr6:71998606-71999437	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr6:71997852-71998706	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr6:71997993-71998698	A549	lung:	n/a	n/a
9	CTBP2	chr6:71997949-71998546	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:71998452-71998580	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:71998860-71999010	GM12871	blood:	n/a	chr6:71998968-71998981
12	CTCF	chr6:71998740-71998890	AG04449	skin:	n/a	n/a
13	CTCF	chr6:71998440-71998590	AG09309	skin:	n/a	n/a
14	CTCF	chr6:71998400-71998550	AG09309	skin:	n/a	n/a
15	CTCF	chr6:71998840-71998990	GM12871	blood:	n/a	chr6:71998968-71998981
16	CTCF	chr6:71998380-71998530	AoAF	blood vessel:	n/a	chr6:71998393-71998406
17	CTCF	chr6:71998405-71998617	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr6:71998420-71998570	GM12878	blood:	n/a	n/a
19	CTCF	chr6:71998420-71998570	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr6:71998386-71998680	MCF-7	breast:	n/a	chr6:71998393-71998406
21	CTCF	chr6:71998400-71998550	AG10803	skin:	n/a	n/a
22	CTCF	chr6:71998360-71998510	GM12864	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
23	CTCF	chr6:71998281-71998749	GM12878	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
24	CTCF	chr6:71998391-71998681	GM19238	blood:	n/a	chr6:71998393-71998406
25	CTCF	chr6:71998354-71998641	H1-hESC	embryonic stem cell:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
26	CTCF	chr6:71998428-71998596	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:71998440-71998590	GM12869	blood:	n/a	n/a
28	CTCF	chr6:71998440-71998590	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr6:71998460-71998610	GM12869	blood:	n/a	n/a
30	CTCF	chr6:71998420-71998570	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr6:71998420-71998570	NHEK	skin:	n/a	n/a
32	CTCF	chr6:71998400-71998550	HEK293	kidney:	n/a	n/a
33	CTCF	chr6:71998380-71998530	SK-N-SH_RA	brain:	n/a	chr6:71998393-71998406
34	CTCF	chr6:71998455-71998573	LNCaP	prostate:	n/a	n/a
35	CTCF	chr6:71998380-71998530	HPAF	blood vessel:	n/a	chr6:71998393-71998406
36	CTCF	chr6:71998440-71998590	RPTEC	kidney:	n/a	n/a
37	CTCF	chr6:71998400-71998550	GM12874	blood:	n/a	n/a
38	CTCF	chr6:71998451-71998585	GM13976	blood:	n/a	n/a
39	CTCF	chr6:71998440-71998590	AG04450	lung:	n/a	n/a
40	CTCF	chr6:71998440-71998590	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr6:71998453-71998586	Medullo	brain:	n/a	n/a
42	CTCF	chr6:71998456-71998632	LNCaP	prostate:	n/a	n/a
43	CTCF	chr6:71998420-71998603	A549	lung:	n/a	n/a
44	CTCF	chr6:71998443-71998574	GM12878	blood:	n/a	n/a
45	CTCF	chr6:71998340-71998490	GM12875	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
46	CTCF	chr6:71998400-71998550	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr6:71998420-71998570	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr6:71998397-71998636	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr6:71998380-71998530	HCT-116	colon:	n/a	chr6:71998393-71998406
50	CTCF	chr6:71998409-71998650	GM10266	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71998385-71998435	NH-A	brain:	n/a
2	chr6:71998385-71998435	PFSK-1	brain:	n/a
3	chr6:71998385-71998435	HAEpiC	amniotic membrane:	n/a
4	chr6:71998398-71998448	ECC-1	luminal epithelium:	n/a
5	chr6:71998398-71998448	GM12878	blood:	n/a
6	chr6:71999062-71999112	HCM	heart:	n/a
7	chr6:71998398-71998448	NHDF-neo	bronchial:	n/a
8	chr6:71998398-71998448	NH-A	brain:	n/a
9	chr6:71999062-71999112	A549	lung:	n/a
10	chr6:71998597-71998647	Hepatocyte	liver:	n/a
11	chr6:71998398-71998448	A549	lung:	n/a
12	chr6:71998398-71998448	MCF-7	breast:	n/a
13	chr6:71998597-71998647	H1-hESC	embryonic stem cell:	embryo
14	chr6:71998398-71998448	Caco-2	colon:	n/a
15	chr6:71998385-71998435	SK-N-SH_RA	brain:	n/a
16	chr6:71998398-71998448	GM19239	blood:	n/a
17	chr6:71999062-71999112	GM19239	blood:	n/a
18	chr6:71999062-71999112	HCT-116	colon:	n/a
19	chr6:71998385-71998435	LNCaP	prostate:	n/a
20	chr6:71998597-71998647	SK-N-SH	brain:	n/a
21	chr6:71998398-71998448	HNPCEpiC	eye:	n/a
22	chr6:71998385-71998435	Hela-S3	cervix:	n/a
23	chr6:71999062-71999112	K562	blood:	n/a
24	chr6:71998597-71998647	GM19239	blood:	n/a
25	chr6:71998385-71998435	NHDF-neo	bronchial:	n/a
26	chr6:71998398-71998448	HAEpiC	amniotic membrane:	n/a
27	chr6:71998398-71998448	PrEC	prostate:	n/a
28	chr6:71999062-71999112	U87	brain:	n/a
29	chr6:71998385-71998435	AG04450	lung:	fetal
30	chr6:71998398-71998448	AG09319	gingival:	n/a
31	chr6:71999062-71999112	NHDF-neo	bronchial:	n/a
32	chr6:71998385-71998435	AG09319	gingival:	n/a
33	chr6:71998385-71998435	GM06990	blood:	n/a
34	chr6:71998385-71998435	BJ	skin:	n/a
35	chr6:71998398-71998448	AoSMC	blood vessel:	n/a
36	chr6:71999062-71999112	AG09319	gingival:	n/a
37	chr6:71998385-71998435	Jurkat	blood:	n/a
38	chr6:71998398-71998448	HRE	kidney:	n/a
39	chr6:71998597-71998647	AG04450	lung:	fetal
40	chr6:71998597-71998647	CMK	blood:	n/a
41	chr6:71998597-71998647	HEEpiC	esophagus:	n/a
42	chr6:71998385-71998435	HEEpiC	esophagus:	n/a
43	chr6:71998385-71998435	GM12878	blood:	n/a
44	chr6:71998398-71998448	AG10803	skin:	n/a
45	chr6:71999062-71999112	HAEpiC	amniotic membrane:	n/a
46	chr6:71998385-71998435	CMK	blood:	n/a
47	chr6:71998597-71998647	ProgFib	skin:	n/a
48	chr6:71998398-71998448	HCPEpiC	choroid plexus:	n/a
49	chr6:71998385-71998435	BE2_C	brain:	n/a
50	chr6:71999062-71999112	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71997812..71999868-chr6:72020711..72023495,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232295	TF binding region
OGFRL1	TF binding region
ENSG00000232295	CpG island
OGFRL1	CpG island
ENSG00000232295	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546110366	chr6:71998412-71998413	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562615714	chr6:71998422-71998423	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557984940	chr6:71998550-71998551	Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576453463	chr6:71998624-71998625	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544160797	chr6:71998651-71998652	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376036358	chr6:71998654-71998655	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368114977	chr6:71998724-71998725	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555871898	chr6:71998769-71998770	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112585190	chr6:71998778-71998779	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541556627	chr6:71998796-71998797	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560427561	chr6:71998799-71998800	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527442325	chr6:71998894-71998895	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546121672	chr6:71998941-71998942	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564341804	chr6:71998952-71998953	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531620075	chr6:71998955-71998956	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550180995	chr6:71999041-71999042	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139728781	chr6:71999046-71999047	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146979013	chr6:71999070-71999071	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:71997200-72000400	Active TSS	A549	lung
4	chr6:71997400-71999400	Active TSS	Brain Anterior Caudate	brain
5	chr6:71997400-72000000	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:71997400-72000400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:71997600-71998600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:71997600-71999200	Active TSS	Fetal Brain Female	brain
9	chr6:71997600-71999400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:71997600-71999400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:71997600-71999600	Active TSS	Aorta	Aorta
12	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
13	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
15	chr6:71997800-71999200	Active TSS	Ovary	ovary
16	chr6:71997800-71999400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:71997800-71999400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:71997800-71999400	Active TSS	Esophagus	oesophagus
19	chr6:71997800-71999400	Active TSS	Left Ventricle	heart
20	chr6:71997800-71999400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr6:71997800-71999400	Active TSS	Psoas Muscle	Psoas
22	chr6:71997800-71999400	Active TSS	Right Atrium	heart
23	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:71997800-71999600	Active TSS	HSMM	muscle
26	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
28	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
29	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
30	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:71998000-71999000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:71998000-71999200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:71998000-71999200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:71998000-71999200	Active TSS	Adipose Nuclei	Adipose
36	chr6:71998000-71999200	Active TSS	Duodenum Mucosa	Duodenum
37	chr6:71998000-71999200	Active TSS	Gastric	stomach
38	chr6:71998000-71999200	Active TSS	Osteobl	bone
39	chr6:71998000-71999400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:71998000-71999400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:71998000-71999400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:71998000-71999400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:71998000-71999400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:71998000-71999400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:71998000-71999400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:71998000-71999400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:71998000-71999400	Active TSS	Fetal Intestine Small	intestine
48	chr6:71998000-71999400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:71998000-71999400	Active TSS	Thymus	Thymus
50	chr6:71998000-71999400	Active TSS	Hela-S3	cervix

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