Variant report

Variant	nsv432849
Chromosome Location	chr6:13225077-13253733
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:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13244619..13246352-chr6:13250637..13252515,2	K562	blood:
2	chr6:13219509..13222376-chr6:13224285..13225985,2	MCF-7	breast:
3	chr6:13229038..13230199-chr6:13278152..13279105,5	MCF-7	breast:
4	chr6:13227632..13230364-chr6:13328169..13330361,2	MCF-7	breast:
5	chr6:13238401..13240269-chr6:13241272..13242998,2	K562	blood:
6	chr6:13233464..13235028-chr6:13327607..13330085,2	MCF-7	breast:
7	chr6:13243200..13244860-chr6:13246425..13248696,2	MCF-7	breast:
8	chr6:13234560..13237159-chr6:13237392..13240503,3	K562	blood:
9	chr6:13224141..13226448-chr6:13237492..13239981,3	K562	blood:
10	chr6:13243200..13244860-chr6:13246425..13248696,2	MCF-7	breast:
11	chr6:13246618..13250195-chr6:13274363..13276198,3	K562	blood:
12	chr6:13224141..13226448-chr6:13237492..13239981,3	K562	blood:
13	chr6:13211847..13215247-chr6:13222867..13225283,3	K562	blood:
14	chr6:13238401..13240269-chr6:13241272..13242998,2	K562	blood:
15	chr6:13229428..13229988-chr6:13331125..13332279,5	K562	blood:
16	chr6:13235525..13237571-chr6:13272396..13274160,2	K562	blood:
17	chr6:13244619..13246352-chr6:13250637..13252515,2	K562	blood:
18	chr6:13229176..13229828-chr6:13332068..13332698,2	MCF-7	breast:
19	chr6:13253507..13255160-chr6:13298362..13301055,2	K562	blood:
20	chr6:13241474..13243088-chr6:13272742..13274411,2	K562	blood:
21	chr6:13234560..13237159-chr6:13237392..13240503,3	K562	blood:
22	chr6:13252536..13255335-chr6:13260574..13262667,2	K562	blood:
23	chr6:13232923..13234560-chr6:13313162..13315905,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D7-3	chr6:13226649-13226777	NONHSAT107794
2	lnc-TBC1D7-3	chr6:13229753-13229908	NONHSAT107794

No data

Variant related genes	Relation type
ENSG00000215022	chromatin interactions
ENSG00000206702	chromatin interactions
ENSG00000112137	chromatin interactions
ENSG00000145979	chromatin interactions

Extended variants
information (count: 1189 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1189 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6458720	chr6:13225077-13225078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140715086	chr6:13225159-13225160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535688081	chr6:13225176-13225177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144590080	chr6:13225178-13225179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370964440	chr6:13225179-13225180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76513750	chr6:13225224-13225225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552037312	chr6:13225239-13225240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375553039	chr6:13225240-13225241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557758836	chr6:13225254-13225255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189658416	chr6:13225282-13225283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367603584	chr6:13225315-13225316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536145622	chr6:13225449-13225450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577592371	chr6:13225453-13225454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192727076	chr6:13225469-13225470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184395404	chr6:13225471-13225472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117507544	chr6:13225500-13225501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74978166	chr6:13225539-13225540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34754601	chr6:13225557-13225558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562760343	chr6:13225574-13225575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576302829	chr6:13225620-13225621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141633436	chr6:13225634-13225635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143778750	chr6:13225650-13225651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189154244	chr6:13225658-13225659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547572922	chr6:13225680-13225681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368307762	chr6:13225730-13225731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561385553	chr6:13225743-13225744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77582899	chr6:13225748-13225749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549164467	chr6:13225761-13225762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569094477	chr6:13225776-13225777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371396587	chr6:13225790-13225791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2840336	chr6:13225795-13225796	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74733625	chr6:13225829-13225830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551621932	chr6:13225832-13225833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181847683	chr6:13225881-13225882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151087535	chr6:13225887-13225888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186538791	chr6:13225964-13225965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12195574	chr6:13225971-13225972	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
38	rs535966809	chr6:13226022-13226023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188250458	chr6:13226037-13226038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576264199	chr6:13226041-13226042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545287648	chr6:13226091-13226092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565618888	chr6:13226103-13226104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572653874	chr6:13226108-13226109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2142568	chr6:13226128-13226129	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs561138871	chr6:13226129-13226130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369800945	chr6:13226165-13226166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530187421	chr6:13226199-13226200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372188829	chr6:13226215-13226216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181076704	chr6:13226237-13226238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73355339	chr6:13226249-13226250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:13203200-13230200	Weak transcription	Fetal Stomach	stomach
3	chr6:13206400-13229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:13206400-13230000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13208200-13239800	Weak transcription	Brain Substantia Nigra	brain
6	chr6:13208400-13230200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13212400-13229800	Weak transcription	Right Ventricle	heart
8	chr6:13213400-13230000	Weak transcription	Fetal Brain Female	brain
9	chr6:13214000-13227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:13217800-13230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:13217800-13230000	Weak transcription	Spleen	Spleen
12	chr6:13217800-13242400	Weak transcription	Pancreas	Pancrea
13	chr6:13218200-13227800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:13218200-13230200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:13218200-13235000	Weak transcription	Adipose Nuclei	Adipose
16	chr6:13218400-13241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:13218600-13227800	Weak transcription	Left Ventricle	heart
18	chr6:13218600-13230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:13218600-13234400	Weak transcription	HSMM	muscle
20	chr6:13218800-13228200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:13218800-13229800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:13218800-13230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:13219000-13230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:13219800-13229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13220400-13228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:13221400-13228400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:13221400-13230000	Weak transcription	Brain Anterior Caudate	brain
28	chr6:13223200-13232200	Weak transcription	Lung	lung
29	chr6:13224200-13225400	Strong transcription	Aorta	Aorta
30	chr6:13224600-13231800	Weak transcription	Fetal Heart	heart
31	chr6:13224800-13227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:13225000-13226200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:13225000-13226200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:13225400-13228200	Weak transcription	Aorta	Aorta
35	chr6:13225800-13227000	Enhancers	HUVEC	blood vessel
36	chr6:13226200-13227800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:13226200-13227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:13227400-13232400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:13227800-13233200	Strong transcription	Left Ventricle	heart
40	chr6:13227800-13235600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:13227800-13238600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr6:13227800-13240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:13227800-13244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:13228000-13236000	Weak transcription	Fetal Brain Male	brain
45	chr6:13228200-13228400	Strong transcription	Aorta	Aorta
46	chr6:13228200-13228800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:13228200-13229800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr6:13228200-13230200	Enhancers	Primary T cells from cord blood	blood
49	chr6:13228200-13230200	Enhancers	Fetal Intestine Large	intestine
50	chr6:13228200-13230200	Enhancers	Fetal Intestine Small	intestine

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