Variant report

Variant	esv3401611
Chromosome Location	chr7:65564802-65565289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65558787..65560603-chr7:65563146..65565504,2	K562	blood:
2	chr7:65536863..65539073-chr7:65564586..65566634,2	MCF-7	breast:
3	chr7:65563510..65565586-chr7:65577625..65580510,3	K562	blood:
4	chr7:65563649..65566683-chr7:65578224..65580127,3	MCF-7	breast:
5	chr7:65563372..65566895-chr7:65568965..65573405,4	MCF-7	breast:
6	chr7:65563966..65565586-chr7:65577625..65580510,2	K562	blood:
7	chr1:172501202..172501947-chr7:65564942..65565569,2	Hela-S3	cervix:
8	chr7:65564438..65566579-chr7:65590943..65592744,2	MCF-7	breast:
9	chr7:65563235..65566518-chr7:65579011..65581335,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-2	chr7:65565194-65565273	XLOC_006476

No data

Variant related genes	Relation type
ENSG00000094975	chromatin interactions
ENSG00000241258	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375960801	chr7:65564825-65564826	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553587559	chr7:65564828-65564829	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150720934	chr7:65564829-65564830	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115799315	chr7:65564864-65564865	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575246904	chr7:65564875-65564876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78062806	chr7:65564932-65564933	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139001930	chr7:65564980-65564981	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576887723	chr7:65565022-65565023	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73136336	chr7:65565028-65565029	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs370640304	chr7:65565033-65565034	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377025192	chr7:65565041-65565042	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555775049	chr7:65565052-65565053	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2249458	chr7:65565074-65565075	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185652590	chr7:65565086-65565087	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542165384	chr7:65565114-65565115	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373859525	chr7:65565121-65565122	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34032527	chr7:65565141-65565142	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs572562999	chr7:65565142-65565143	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115880289	chr7:65565182-65565183	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149910799	chr7:65565192-65565193	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375466975	chr7:65565199-65565200	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs556901692	chr7:65565200-65565201	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs553210045	chr7:65565205-65565206	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs542534518	chr7:65565240-65565241	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs201228936	chr7:65565276-65565277	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65541600-65565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65558200-65569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:65564400-65565600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:65564400-65565800	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:65564600-65565000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:65564600-65565000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:65564600-65565000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:65564600-65565000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:65564600-65565000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr7:65564600-65565000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:65564600-65565000	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr7:65564600-65565000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr7:65564600-65565000	Flanking Active TSS	Esophagus	oesophagus
14	chr7:65564600-65565000	Enhancers	Fetal Heart	heart
15	chr7:65564600-65565000	Enhancers	Spleen	Spleen
16	chr7:65564600-65565000	Flanking Active TSS	Hela-S3	cervix
17	chr7:65564600-65565200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:65564600-65565200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65564600-65565200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:65564600-65565200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:65564600-65565200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:65564600-65565200	Flanking Active TSS	Liver	Liver
23	chr7:65564600-65565200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr7:65564600-65565200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:65564600-65565200	Flanking Active TSS	Pancreas	Pancrea
26	chr7:65564600-65565200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:65564600-65565200	Flanking Active TSS	K562	blood
28	chr7:65564600-65565200	Flanking Active TSS	NH-A	brain
29	chr7:65564600-65565200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr7:65564600-65565200	Flanking Active TSS	Osteobl	bone
31	chr7:65564600-65565400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:65564600-65565400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:65564600-65565400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr7:65564600-65565400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:65564600-65565400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:65564600-65565400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:65564600-65565400	Flanking Active TSS	Fetal Brain Male	brain
38	chr7:65564600-65565400	Flanking Active TSS	GM12878-XiMat	blood
39	chr7:65564600-65565600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:65564600-65565600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:65564600-65565600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:65564600-65565600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:65564600-65565600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:65564600-65565600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:65564600-65565600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr7:65564600-65565600	Active TSS	Fetal Kidney	kidney
49	chr7:65564600-65565600	Flanking Active TSS	Fetal Stomach	stomach
50	chr7:65564600-65565600	Transcr. at gene 5' and 3'	Right Atrium	heart

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