Variant report

Variant	esv3475535
Chromosome Location	chr7:4807619-4808122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4796456..4799224-chr7:4806588..4809461,2	MCF-7	breast:
2	chr7:4799859..4801528-chr7:4805403..4807686,2	K562	blood:
3	chr7:4802110..4804646-chr7:4807009..4808725,2	MCF-7	breast:
4	chr7:4803027..4805141-chr7:4807600..4810377,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RADIL-1	chr7:4808070-4809064	ENSG00000251104
2	lnc-RADIL-1	chr7:4807257-4807749	ENSG00000251104

Variant related genes	Relation type
ENSG00000164916	chromatin interactions
ADAMTSL1	miRNA target sites
KAT2B	miRNA target sites

Extended variants
information (count: 61 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188167295	chr7:4807622-4807623	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs562023000	chr7:4807626-4807627	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs529579210	chr7:4807638-4807639	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs112912430	chr7:4807653-4807654	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs180735309	chr7:4807654-4807655	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs559739805	chr7:4807656-4807657	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs527335977	chr7:4807666-4807667	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs377736415	chr7:4807697-4807698	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs75568818	chr7:4807726-4807727	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs78789334	chr7:4807732-4807733	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs535275436	chr7:4807734-4807735	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs551997685	chr7:4807740-4807741	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564250694	chr7:4807741-4807742	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs62453208	chr7:4807742-4807743	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs2932227	chr7:4807751-4807752	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201683136	chr7:4807752-4807753	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368445601	chr7:4807753-4807754	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11972388	chr7:4807786-4807787	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376392104	chr7:4807803-4807804	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546806402	chr7:4807825-4807826	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371717063	chr7:4807826-4807827	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547766285	chr7:4807827-4807828	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565948471	chr7:4807830-4807831	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374581026	chr7:4807833-4807834	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557967890	chr7:4807841-4807842	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368328494	chr7:4807843-4807844	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576509624	chr7:4807851-4807852	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537233628	chr7:4807853-4807854	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555557716	chr7:4807864-4807865	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188511	chr7:4807871-4807872	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573969348	chr7:4807908-4807909	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372481423	chr7:4807909-4807910	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575385603	chr7:4807912-4807913	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377037955	chr7:4807913-4807914	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555393187	chr7:4807915-4807916	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564019635	chr7:4807920-4807921	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568527576	chr7:4807921-4807922	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549957432	chr7:4807924-4807925	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541062870	chr7:4807930-4807931	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140250307	chr7:4807949-4807950	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559301662	chr7:4807953-4807954	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533492196	chr7:4807980-4807981	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112836868	chr7:4807985-4807986	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563743118	chr7:4807998-4807999	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369506327	chr7:4807999-4808000	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547699449	chr7:4808005-4808006	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531090712	chr7:4808006-4808007	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565992874	chr7:4808008-4808009	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539446039	chr7:4808010-4808011	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370060126	chr7:4808013-4808014	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
2	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:4787600-4812400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:4788200-4808200	Weak transcription	Fetal Heart	heart
7	chr7:4788200-4812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:4788400-4808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
10	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:4791200-4808000	Strong transcription	Fetal Muscle Leg	muscle
12	chr7:4791800-4809000	Strong transcription	NHLF	lung
13	chr7:4792000-4808200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:4793200-4808800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:4793600-4807800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:4793800-4809000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:4794000-4807800	Strong transcription	Brain Hippocampus Middle	brain
18	chr7:4794000-4808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:4794000-4808600	Strong transcription	Fetal Brain Female	brain
20	chr7:4794000-4809000	Strong transcription	Liver	Liver
21	chr7:4794200-4809000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:4794200-4814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:4794400-4808200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:4794400-4808600	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr7:4795200-4807800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:4795200-4808600	Strong transcription	Thymus	Thymus
27	chr7:4796600-4814000	Weak transcription	Fetal Kidney	kidney
28	chr7:4798400-4814000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:4798600-4808000	Weak transcription	HSMM	muscle
30	chr7:4798600-4814000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:4799400-4809200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:4800000-4813800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:4800200-4808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:4800200-4813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:4801000-4814200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:4801600-4814400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:4802600-4807800	Strong transcription	Esophagus	oesophagus
38	chr7:4802600-4814200	Weak transcription	Psoas Muscle	Psoas
39	chr7:4802800-4809000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:4803000-4810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:4803000-4813800	Weak transcription	NHDF-Ad	bronchial
42	chr7:4803000-4814000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:4803200-4813200	Weak transcription	K562	blood
44	chr7:4803200-4814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:4803200-4814200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:4803400-4809400	Weak transcription	Stomach Mucosa	stomach
47	chr7:4803400-4814000	Weak transcription	Small Intestine	intestine
48	chr7:4803600-4814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:4803600-4814200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:4803600-4814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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