Variant report

Variant	nsv981100
Chromosome Location	chr6:5703106-5706653
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	chr6:5704687..5707322-chr6:5708946..5711451,2	K562	blood:
2	chr6:5704009..5705520-chr6:5708074..5709705,2	MCF-7	breast:

Extended variants
information (count: 139 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570879884	chr6:5703113-5703114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538359530	chr6:5703118-5703119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118113860	chr6:5703124-5703125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9328328	chr6:5703138-5703139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536439098	chr6:5703151-5703152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554428988	chr6:5703154-5703155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576409298	chr6:5703168-5703169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374189557	chr6:5703200-5703201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576953124	chr6:5703227-5703228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188715574	chr6:5703229-5703230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545806793	chr6:5703242-5703243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565295798	chr6:5703261-5703262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115241245	chr6:5703291-5703292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1001568	chr6:5703330-5703331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559793267	chr6:5703339-5703340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530270681	chr6:5703340-5703341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180784193	chr6:5703345-5703346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147706633	chr6:5703350-5703351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563492735	chr6:5703411-5703412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531128807	chr6:5703424-5703425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552416865	chr6:5703429-5703430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570941307	chr6:5703537-5703538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372734452	chr6:5703540-5703541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544208625	chr6:5703541-5703542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78935542	chr6:5703557-5703558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11969845	chr6:5703566-5703567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78570659	chr6:5703567-5703568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547217745	chr6:5703580-5703581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149377390	chr6:5703602-5703603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372094943	chr6:5703659-5703660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535921851	chr6:5703678-5703679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543116477	chr6:5703837-5703838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576270099	chr6:5703849-5703850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537377478	chr6:5703896-5703897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558869370	chr6:5703913-5703914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577359222	chr6:5703943-5703944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541405057	chr6:5703962-5703963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559446004	chr6:5703967-5703968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77798813	chr6:5703972-5703973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76480628	chr6:5703975-5703976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183724603	chr6:5703979-5703980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1005521	chr6:5704014-5704015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs546137911	chr6:5704025-5704026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564433758	chr6:5704033-5704034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530180239	chr6:5704070-5704071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113878710	chr6:5704077-5704078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547375417	chr6:5704138-5704139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115294354	chr6:5704183-5704184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551469542	chr6:5704193-5704194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182452477	chr6:5704196-5704197	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:61 , 50 per page) page: 1 2

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	chr6:5699800-5715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:5700000-5705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:5700400-5708200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:5700800-5704200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:5701600-5705600	Weak transcription	Aorta	Aorta
19	chr6:5701600-5706600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:5701800-5707200	Weak transcription	Spleen	Spleen
21	chr6:5701800-5708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:5702000-5705800	Enhancers	Primary T cells from cord blood	blood
23	chr6:5702400-5709400	Weak transcription	Fetal Lung	lung
24	chr6:5702600-5704000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:5703000-5703800	Enhancers	Fetal Heart	heart
26	chr6:5703000-5706600	Enhancers	Fetal Thymus	thymus
27	chr6:5704000-5704200	Enhancers	Lung	lung
28	chr6:5704000-5704200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:5704200-5704400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:5704200-5704400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:5704200-5712600	Weak transcription	Lung	lung
32	chr6:5704400-5709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:5704600-5705200	Enhancers	HepG2	liver
34	chr6:5704600-5705400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:5704800-5707800	Enhancers	Dnd41	blood
36	chr6:5705000-5716600	Weak transcription	Fetal Intestine Small	intestine
37	chr6:5705400-5706600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:5705400-5706600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:5705400-5707400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:5705400-5708000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr6:5705600-5706200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:5705600-5706600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:5705600-5707000	Strong transcription	Aorta	Aorta
44	chr6:5705600-5707200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:5705800-5707000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr6:5705800-5707000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:5705800-5707200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:5705800-5707600	Enhancers	Thymus	Thymus
49	chr6:5706000-5706400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:5706000-5706800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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