Variant report

Variant	nsv970203
Chromosome Location	chr6:5701414-5703106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5693144..5695686-chr6:5698907..5701640,2	K562	blood:
2	chr6:5692733..5695686-chr6:5700140..5701743,2	K562	blood:

Variant related genes	Relation type
ENSG00000270174	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562357721	chr6:5701415-5701416	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532945134	chr6:5701432-5701433	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551289366	chr6:5701444-5701445	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560181904	chr6:5701450-5701451	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527724749	chr6:5701467-5701468	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187801874	chr6:5701507-5701508	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9405281	chr6:5701541-5701542	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs151155774	chr6:5701589-5701590	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567048178	chr6:5701621-5701622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140599690	chr6:5701630-5701631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571899826	chr6:5701666-5701667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539235524	chr6:5701669-5701670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554546921	chr6:5701674-5701675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566254755	chr6:5701681-5701682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536904447	chr6:5701711-5701712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150492614	chr6:5701767-5701768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117254372	chr6:5701776-5701777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138462124	chr6:5701782-5701783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111453071	chr6:5701783-5701784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555817481	chr6:5701790-5701791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577461547	chr6:5701809-5701810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143966643	chr6:5701813-5701814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560251274	chr6:5701817-5701818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527591977	chr6:5701843-5701844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193272317	chr6:5701872-5701873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537719696	chr6:5701884-5701885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185027448	chr6:5701905-5701906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561163075	chr6:5701906-5701907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531719306	chr6:5701936-5701937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550346489	chr6:5702034-5702035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115729478	chr6:5702073-5702074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71557578	chr6:5702081-5702082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537857784	chr6:5702087-5702088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188706379	chr6:5702099-5702100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554565497	chr6:5702102-5702103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536559958	chr6:5702111-5702112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555228000	chr6:5702206-5702207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567176886	chr6:5702240-5702241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557611632	chr6:5702246-5702247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367564459	chr6:5702278-5702279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115664160	chr6:5702313-5702314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372793154	chr6:5702364-5702365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577326274	chr6:5702369-5702370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377192447	chr6:5702505-5702506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192547144	chr6:5702529-5702530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574118163	chr6:5702537-5702538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572192667	chr6:5702558-5702559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9504493	chr6:5702568-5702569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561235208	chr6:5702610-5702611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568166014	chr6:5702620-5702621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
2	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
4	chr6:5684800-5706000	Weak transcription	Ovary	ovary
5	chr6:5695800-5709800	Weak transcription	Fetal Stomach	stomach
6	chr6:5696200-5707600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:5696200-5712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:5696400-5705400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:5699200-5705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:5699400-5708000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:5699400-5713200	Weak transcription	Esophagus	oesophagus
12	chr6:5699600-5704000	Weak transcription	Lung	lung
13	chr6:5699600-5704800	Weak transcription	Dnd41	blood
14	chr6:5699800-5702000	Weak transcription	Primary T cells from cord blood	blood
15	chr6:5699800-5715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:5700000-5705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:5700400-5708200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:5700800-5701800	Enhancers	Spleen	Spleen
19	chr6:5700800-5702200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:5700800-5704200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:5701200-5701600	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:5701200-5701800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:5701200-5702000	Enhancers	Fetal Heart	heart
24	chr6:5701400-5701600	ZNF genes & repeats	Aorta	Aorta
25	chr6:5701400-5701600	Enhancers	Right Atrium	heart
26	chr6:5701400-5702200	Enhancers	Fetal Thymus	thymus
27	chr6:5701600-5705600	Weak transcription	Aorta	Aorta
28	chr6:5701600-5706600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:5701800-5707200	Weak transcription	Spleen	Spleen
30	chr6:5701800-5708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:5702000-5703000	Weak transcription	Fetal Heart	heart
32	chr6:5702000-5705800	Enhancers	Primary T cells from cord blood	blood
33	chr6:5702200-5702600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:5702200-5703000	Weak transcription	Fetal Thymus	thymus
35	chr6:5702400-5709400	Weak transcription	Fetal Lung	lung
36	chr6:5702600-5704000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:5703000-5703800	Enhancers	Fetal Heart	heart
38	chr6:5703000-5706600	Enhancers	Fetal Thymus	thymus

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