Variant report

Variant	nsv819632
Chromosome Location	chr13:76197383-76197971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr13:76197138-76197435	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMO7-2	chr13:76197405-76197456	NONHSAT034367
2	lnc-LMO7-2	chr13:76197407-76197456	ENSG00000261553.1

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	chromatin interactions
ENSG00000261105	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370751235	chr13:76197394-76197395	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373855252	chr13:76197427-76197428	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs140819212	chr13:76197456-76197457	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs7982750	chr13:76197458-76197459	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368525640	chr13:76197472-76197473	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370663929	chr13:76197483-76197484	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190242627	chr13:76197491-76197492	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374222469	chr13:76197496-76197497	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181949117	chr13:76197507-76197508	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540016394	chr13:76197522-76197523	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561937498	chr13:76197523-76197524	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374469505	chr13:76197541-76197542	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559648548	chr13:76197556-76197557	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541904072	chr13:76197571-76197572	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563479320	chr13:76197573-76197574	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375651842	chr13:76197575-76197576	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9600507	chr13:76197579-76197580	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530809223	chr13:76197586-76197587	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150272020	chr13:76197592-76197593	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138930802	chr13:76197609-76197610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528797459	chr13:76197620-76197621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9544007	chr13:76197647-76197648	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs568646534	chr13:76197655-76197656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545337889	chr13:76197666-76197667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563910396	chr13:76197744-76197745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530986120	chr13:76197747-76197748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557083695	chr13:76197752-76197753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549515229	chr13:76197797-76197798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77232955	chr13:76197806-76197807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530341716	chr13:76197807-76197808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569020563	chr13:76197808-76197809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111522663	chr13:76197816-76197817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7986201	chr13:76197818-76197819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573022549	chr13:76197819-76197820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540544916	chr13:76197828-76197829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9573592	chr13:76197843-76197844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs9544008	chr13:76197897-76197898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7986566	chr13:76197931-76197932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs188907064	chr13:76197944-76197945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530917444	chr13:76197960-76197961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:76149800-76209600	Weak transcription	Lung	lung
5	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
7	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
8	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
10	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:76174600-76198200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
13	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
14	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
15	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
16	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
18	chr13:76180800-76204600	Weak transcription	Dnd41	blood
19	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
21	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
23	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:76181200-76198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
29	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:76181600-76207400	Weak transcription	HMEC	breast
31	chr13:76182200-76198200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:76187400-76198000	Weak transcription	Primary T cells from cord blood	blood
34	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
36	chr13:76191000-76201200	Weak transcription	Brain Anterior Caudate	brain
37	chr13:76191600-76201400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
41	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:76194600-76198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:76195400-76197400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:76195400-76197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:76195400-76198200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:76195800-76197400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:76195800-76197800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:76196000-76198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:76196000-76200000	Weak transcription	Aorta	Aorta
50	chr13:76196200-76198200	Enhancers	Muscle Satellite Cultured Cells	--

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